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Red cell glucose-6-phosphate dehydrogenase deficiency in Turkey

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Abstract

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common erythrocyte enzyme deficiency in the world. The epidemiological, biochemical and molecular studies on G6PD enzyme deficiency performed over the past 50 years are summarized herein, with special emphasis on the findings of studies related to the enzyme deficiency in Turkey.

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... In kurdish jews the G6PD deficiency, which has the highest known incidence in the world, and which affects about 70% of males and the G6PD Mediterranean is 80-97% among them (oppenheim et al., 1993). In neighboring countries of Iraq such as Turkey G6PD Mediterranean was (80%) (Altay and Gümrük, 2008). In Kuwait it was (74.2%) ( Alfadahi, 2005). ...
... In Iran the highest frequency reported for Chatham mutation was (27%) in Mazandaran it is consider the higher prevalence of G6PD Chatham than anywhere else in the world (Mesbah-Namin, 2002) and the lowest frequency for G6PD Chatham reported in Sistan & Baluchestan (2.1%) ((Noori-Daloii et al., 2009). In Turkey the G6PD Chatham was (2%) (Altay and Gümrük, 2008). In kuwait G6PD (10.1%) ( Alfadahi, 2005). ...
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Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common inherited human enzymopathy, characterized by clinical, biochemical, and molecular heterogeneity. More than 400 million people have been affected worldwide. In this study two mutations Mediterranean (563 C→T) and Chatham (1003 G→A) G6PD are studied at molecular bases. A54 G6PD deficient patients and 10 normal Kurdish male samples are selected, and the DNA extracted from each peripheral blood samples using phenol-chloroform based method. The quality and quantity of each DNA samples measured by Nanodrop 1000. For identification of Mediterranean and Chathem mutation PCR/RFLP Technique was used in this study. 46 (85%) of 54 samples had G6PD Mediterranean (563 C→T) and 3 (5.5%) samples had G6PD Chathem (1003 G→A) mutation. No mutations have been detected in normal samples in this study. According to this study G6PD Mediterranean is the most frequent mutation in Erbil city like other provinces in Kurdistan and neighboring country among G6PD deficient individuals and the G6PD Chatham present in low frequency.
... at the center of country and 15.3% from Basra at the extreme south [7][8][9][10]. As outlined in Table 4, polymorphic frequencies of G6PD deficiency were reported throughout the Eastern Mediterranean Region ranging from 2% in Lebanon to 39.8% in Eastern Saudi Arabia [4][5][6][7][8][9][10]15,25,26]. The polymorphic frequency of G6PD deficiency in Iraq and in the Eastern Mediterranean Region may be linked to selective advantage against malaria in these previously highly endemic areas [1,27]. ...
... Since then it has also been reported in variable frequencies in Jordan, Kuwait and western Saudi Arabia [18,19,44]. However it was not reported among Iranian Kurds or in neighboring Turkey [15,26] as is the case in the current study. ...
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Glucose-6-Phosphate dehydrogenase (G6PD) is a key enzyme of the pentose monophosphate pathway, and its deficiency is the most common inherited enzymopathy worldwide. G6PD deficiency is common among Iraqis, including those of the Kurdish ethnic group, however no study of significance has ever addressed the molecular basis of this disorder in this population. The aim of this study is to determine the prevalence of this enzymopathy and its molecular basis among Iraqi Kurds. A total of 580 healthy male Kurdish Iraqis randomly selected from a main regional premarital screening center in Northern Iraq were screened for G6PD deficiency using methemoglobin reduction test. The results were confirmed by quantitative enzyme assay for the cases that showed G6PD deficiency. DNA analysis was performed on 115 G6PD deficient subjects, 50 from the premarital screening group and 65 unrelated Kurdish male patients with documented acute hemolytic episodes due to G6PD deficiency. Analysis was performed using polymerase chain reaction/restriction fragment length polymorphism for five deficient molecular variants, namely G6PD Mediterranean (563 C-->T), G6PD Chatham (1003 G-->A), G6PD A- (202 G-->A), G6PD Aures (143 T-->C) and G6PD Cosenza (1376 G-->C), as well as the silent 1311 (C-->T) mutation. Among 580 random Iraqi male Kurds, 63 (10.9%) had documented G6PD deficiency. Molecular studies performed on a total of 115 G6PD deficient males revealed that 101 (87.8%) had the G6PD Mediterranean variant and 10 (8.7%) had the G6PD Chatham variant. No cases of G6PD A-, G6PD Aures or G6PD Cosenza were identified, leaving 4 cases (3.5%) uncharacterized. Further molecular screening revealed that the silent mutation 1311 was present in 93/95 of the Mediterranean and 1/10 of the Chatham cases. The current study revealed a high prevalence of G6PD deficiency among Iraqi Kurdish population of Northern Iraq with most cases being due to the G6PD Mediterranean and Chatham variants. These results are similar to those reported from neighboring Iran and Turkey and to lesser extent other Mediterranean countries.
... The fluorescence signal rates of the mutant and wild-type individuals for 1311 polymorphism in the microarray analysis F Fl lu uo or re es sc ce en nc ce e with an increased rate throughout Africa, Asia, the Mediterranean, and the Middle East [6]. In Turkey, the frequency of G6PD deficiency varies greatly between 0.5% and 20% with the genetic and ethnic background of the population studied [7]. However, the overall incidence was stated to be 0.5% and 8.2% in Turkey and in Adana, the biggest city of the Cukurova Plain located at the southeast coast of the Mediterranean Sea, respectively [7, 8]. ...
... In Turkey, the frequency of G6PD deficiency varies greatly between 0.5% and 20% with the genetic and ethnic background of the population studied [7]. However, the overall incidence was stated to be 0.5% and 8.2% in Turkey and in Adana, the biggest city of the Cukurova Plain located at the southeast coast of the Mediterranean Sea, respectively [7, 8]. Although most patients are asymptomatic, G6PD deficiency can cause a spectrum of diseases including neonatal hyperbilirubinaemia, acute and chronic haemolysis, and so on. ...
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Nucleotide 1311 polymorphism at exon 11 of the glucose-6-phosphate dehydrogenase (G6PD) gene is fairly common in various populations worldwide, especially among Mediterranean populations. In this study, 1311 polymorphism in G6PD-deficient cases was identified by microarray technique. Four hundred and fifty clinically healthy subjects were screened and 32 cases were found to have G6PD deficiency (7.11%). Our analysis of genomic DNA samples from 32 G6PD-deficient individuals revealed that the number and percentage of subjects who had a C-to-T alteration at nucleotide 1311 were 21 and 4.7% respectively. Given that the frequency of 1311 polymorphism has been reported in previous studies to be fairly high among G6PD-deficient people with the Mediterranean mutation, our data seem to be inconsistent with what we would expect for this particular region. The highly diverse ethnic background of the Adana population which probably results from the high level of immigration into this part of Turkey may be one of the most sensible explanations for this unexpected finding. Nevertheless, it seems that our results need to be confirmed in larger studies. The polymorphism studies in the G6PD gene may help us to illuminate the genetic basis of the G6PD deficiency in different regions and in various ethnic groups, and also to discover the influence of a specific polymorphism on the clinical course of the deficiency.
... Th e disorder is most frequently encountered in tropical Africa and Asia, the Middle East, the Mediterranean region and Papua New Guinea (5-25%) 11 . Th e frequency of this enzyme defi ciency in Turkey is reported to vary between 0.5 and 20% depending on the geographical area and/or ethnic group 12 . ...
... Th e beta thalassemia trait frequency in Turkey was reported 2.1% while the G6PD enzyme defi ciency rate varied between 0.5 and 20% 12,16 . However, I could not fi nd any information on the possibility of co-inheritance of both abnormalities together in a heterozygous form. ...
... G6PD eksikliği erkeklerde (%6.6), kadınlara göre (%1.9) daha sık görülmektedir. G6PD enzim eksikliğinin Türkiye' de görülme oranı coğrafi bölgelere ve etnik gruplara göre farklılık göstermekte olup %0,25-18 oranında bildirilmekte ve en sık Çukurova bölgesinde görülmektedir [3]. Bu yazıda tip 1 DM tanısı almış fakat kan glukozunun yüksek seyretmesine rağmen, HbA1c düzeyi düşük olarak saptanan ve sonrasında G6PD enzim eksikliğine bağlı hemolitik anemi tanısı alan bir olgu sunulmaktadır. ...
... G6PD eksikliğinde eritrositler oksitleyici bir strese uğradıklarında glutatyonu indirgenmiş durumda tutamadıkları için hemoliz gelişir. Eritrositlerde oksidatif hasara karşı gelişen savunma, mevcut enzim aktivasyonu ile orantılıdır [3]. Oksidatif stres altında G6PD eksikliği olanlarda akut hemoliz gelişir. ...
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In monitoring the glycemic status of diabetic patients with the most commonly used test glycosylated hemoglobin (HbA1c) measurement. Conditions that can cause incorrect results in the prevention of HbA1c in diabetic patients with microvascular and macrovascular complications should be considered. In this paper, the diagnosis of type 1 diabetes mellitus, although a measure of hyperglycemia, low HbA1c measured phenomenon is discussed.
... The incidence of G6PD deficiency in Turkey shows significant regional differences. Published studies have revealed that it is <1% in Central and Northeast Anatolia, 2.3% in Southeastern Anatolia, and 5-20% in Southwest Anatolia 45 . In the Cukurova region, this rate is 8.2% 46 . ...
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Purpose: The aim of this study was to investigate in vitro effect of glyphosate on Glucose 6-phosphate dehydrogenase (G6PD) enzyme activity. Materials and Methods: In terms of G6PD enzyme deficiency, samples taken from healthy and enzyme deficient male individuals were studied. After the hemolysates were prepared from blood sample, G6PD enyzme activities were determined by the modified Beutler method. Then, the effects of different concentrations (5.3x10-3, 5.3x10-4, 5.3x10-5, 5.3x10-6 mmol/mL) of glyphosate on G6PD activity were evaluated in normal and mutant enzymes. In addition, the in vitro effect of the antioxidant N-acetylcysteine (NAC) on the enzyme was investigated in the presence of glyphosate and without glyphosate. Results: While the result of normal erythrocyte G6PD activity was 12U/g for the individual, the result for the individual with enzyme deficiency was 2.5U/g Hb. The glyphosate’s maximum activity loss in the G6PD enzyme was observed in the 60th minute incubation. The highest inhibition was observed at 5.3x10-3 mmol/mL glyphosate. 4.7x10-7 mmol/mL N-Acetylcysteine partially increased the inhibition of glyphosate in the G6PD enzyme in healthy individuals, but had no effect on mutant G6PD. Conclusion: In humans, it is predicted that glyphosate affects G6PD enzyme activity in vitro and is an interference agent in the experimental process. In case of contamination, studies on limits of glyphosate that will not cause harmful effects in humans should be continued.
... It is well known that G6PD deficiency is not rare in the Turkish population [1]. This case is reported in order to share experience, since there has been no report on the clinical usage of oseltamivir or any safety data regarding its usage in G6PDdeficient subjects. ...
... Studies from other Arab countries showed variable rates of 10.1% in Kuwait, 3.6% in Jordan and 1% in Algeria [17,18,23], while it was encountered in 8.7% of Iraqi Kurds, 4% in Turkey and 2.2-27% in Iran[12,25262728 . G6PD Chatham is now recognized as one of the common variants worldwideFigure 1 The prevalence rates of G6PD deficiency and the most common deficient variants among males in Iraq and some of the surrounding populations [6,89101112161718192021222324252627282930313238,424344454647484950515253545556. [17,23,26], and in addition to Mediterranean countries, it has also been reported in polymorphic frequencies in Spain, India, Malaysia and Indonesia [29,33,38,39]. ...
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Although G6PD deficiency is the most common genetically determined blood disorder among Iraqis, its molecular basis has only recently been studied among the Kurds in North Iraq, while studies focusing on Arabs in other parts of Iraq are still absent. A total of 1810 apparently healthy adult male blood donors were randomly recruited from the national blood transfusion center in Baghdad. They were classified into G6PD deficient and non-deficient individuals based on the results of methemoglobin reduction test (MHRT), with confirmation of deficiency by subsequent enzyme assays. DNA from deficient individuals was studied using a polymerase chain reaction-Restriction fragment length polymorphism (PCR-RFLP) for four deficient molecular variants, namely G6PD Mediterranean (563 C→T), Chatham (1003 G→A), A- (202 G→A) and Aures (143 T→C). A subset of those with the Mediterranean variant, were further investigated for the 1311 (C→T) silent mutation. G6PD deficiency was detected in 109 of the 1810 screened male individuals (6.0%). Among 101 G6PD deficient males molecularly studied, the Mediterranean mutation was detected in 75 cases (74.3%), G6PD Chatham in 5 cases (5.0%), G6PD A- in two cases (2.0%), and G6PD Aures in none. The 1311 silent mutation was detected in 48 out of the 51 G6PD deficient males with the Mediterranean variant studied (94.1%). Three polymorphic variants namely: the Mediterranean, Chatham and A-, constituted more than 80% of G6PD deficient variants among males in Baghdad. Iraq. This observation is to some extent comparable to other Asian Arab countries, neighboring Turkey and Iran.
... 15 However, it is lower than the prevalence of 10.9% from Kurdish population of Duhok and 15.3% reported from Basrah in Southern Iraq. 9-11 G6PD deficiency is common throughout the Eastern Mediterranean region, though its frequencies are variable and range between 2-65%. 5,9,10,[15][16][17][18] The polymorphic frequency of G6PD in Sulymania and the rest of Iraq as well as the Eastern Mediterranean in general, has been linked to selective advantage offered by inheritance of the disorder in malarial endemic areas. 1 Sulymania, in particular, has been known to be highly endemic for malaria until the early 1990s. 19 The Mediterranean variant (563 C→T) was found to be the most frequent variant in the Eastern Mediterranean countries, with figures ranging from 54% in Jordan to 91% in Kurds of Western Iran. ...
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ABSTRACT Background and objectives Glucose-6-Phosphate Dehydrogenase deficiency is the most common inherited hematological disorder among Iraqis. Studies have addressed its prevalence in several parts of the country, but neither the prevalence nor the molecular variants have been studied in the Sulymania province-northeastern Iraq. This study aimed at addressing the latter issue. Methods A total of 838 random healthy male individuals from Sulymania province were screened for glucose-6-phosphate dehydrogenase deficiency using a fluorescent spot test. If deficient, the results were confirmed by quantitative enzyme assay. Deficient individuals with adequate samples had their DNA extracted and analyzed for four deficient molecular variants using a Polymerase Chain Reaction-Restriction fragment polymorphism method. These variants were the Mediterranean (563 C→T), Chatham (1003 G→A), A - (202 G→A), and the Cosenza (1376 G→C) variants respectively. Results It was found that 50 individuals (6%) were glucose-6-phosphate dehydrogenase deficient. Forty of these individuals had adequate samples to analyze for the four deficient molecular variants. It was found that 30 (75%) had the Mediterranean and another 4 (10%) had the Chatham variants. No cases of A- or Cosenza variants were identified, leaving 6 cases uncharacterized. Conclusions This study documented a 6% prevalence of glucose-6-phosphate dehydrogenase deficiency in Sulymania, an area of northeast Iraq that has not been previously studied. Furthermore, it was found that Mediterranean and Chatham variants constitute the bulk of glucose 6 phosphate dehydrogenase deficient variants in this province.
... Numerous reports have been published on this genetic disorder in various Asian countries like Indonesia [38], Thailand [39], Malaysia [40], Taiwan [41], Bangladesh [42], Pakistan [43,44], China [45], and Myanmar [46]. In Southeast Asia, the prevalence of G6PD deficiency differs greatly by region and ethic group and variants are similarly [54] Egypt 5.9% Al-Arrayed [55] Bahrain 18% Atlay and Gumruk [56] Turkey 0.5-20% Usanga and Ameen [51] Syria 30% Segeja et al. [57] Tanzania 4.43-11.32% White et al. [58] Yamen 6.2% Davis et al. [36] Uganda 13% Alabdulaali et al. [59] Saudi Arabia 1-39.8% ...
Article
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The aim of the present study was to determine the glucose-6-phostphate dehydrogenase (G6PD) deficiency in scheduled caste (SC) population of eastern Uttar Pradesh, India. After taking clearance certificate from the Institutional Ethics Committee, blood samples were collected from total 200 healthy individuals belonging to scheduled caste. G6PD deficiency analysis was done by methemoglobin test according to the method of Brewer et al. (1962). Out of 200 samples, 20 individuals were glucose-6-phosphate dehydrogenase deficient and 22 samples were heterozygous that is, carriers. The percentage of G6PD deficient (Gd+/+) and G6PD carrier (Gd+/Gd−) phenotypes were 10% and 11%, respectively. The frequency of mutant allele (Gd−) was observed 0.172. Early detection and prevention is the key strategy for successful management and control of this genetic disease.
... G6PD geni X kromozomunun subtelomerik bölgesinde q28 lokusunda yerleşmiştir. Çoğunluğu nokta mutasyonları olmak üzere nadiren delesyonlara bağlı olarak gelişen 400'den fazla varyantı saptanmıştır (1,4,5). Bu nedenle farklı varyantlar ve klinik fenotipler ortaya çıkmıştır. ...
... 8 The prevalence of this enzyme deficiency in Turkey is between 0.5-20%, varying according to the geographical region and/or ethnicity. 9 The fava bean is one of the triggers of hemolysis in patients with G6PD deficiency, however up to the present, vetch has not been reported to be a trigger. Vetch is used as livestock fodder, especially as an alternative protein in poultry. ...
Article
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Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme, playing an important role in the redox metabolism of all aerobic cells. It was reported that certain medications, fava beans, and infections can trigger acute hemolytic anemia in patients with G6PD deficiency. An 8-year-old male patient was admitted to the hospital with blood in the urine, headache, dizziness, fatigue, loss of appetite, and jaundice in the eyes, 24 hours after eating large amounts of fresh, vetch grains. Laboratory investigation revealed hemolytic anemia, hyperbilirubinemia, and G6PD deficiency. Approximately 0.5% of fava bean seeds have 2 pyrimidine beta-glycosides called, vicine and convicine. Vetch has 0.731% vicine, 0.081% convicine, and 0.530% beta cyanoalanine glycosides. The aim of this case report is to emphasize the importance of vetch seeds as a cause for hemolytic crisis in our country, where approximately one million tons of vetch is produced per year, especially in the agricultural regions.
... 15 However, it is lower than the prevalence of 10.9% from Kurdish population of Duhok and 15.3% reported from Basrah in Southern Iraq. 9-11 G6PD deficiency is common throughout the Eastern Mediterranean region, though its frequencies are variable and range between 2-65%. 5,9,10,[15][16][17][18] The polymorphic frequency of G6PD in Sulymania and the rest of Iraq as well as the Eastern Mediterranean in general, has been linked to selective advantage offered by inheritance of the disorder in malarial endemic areas. 1 Sulymania, in particular, has been known to be highly endemic for malaria until the early 1990s. 19 The Mediterranean variant (563 C→T) was found to be the most frequent variant in the Eastern Mediterranean countries, with figures ranging from 54% in Jordan to 91% in Kurds of Western Iran. ...
Article
Background and objectives Glucose-6-Phosphate Dehydrogenase deficiency is the most common inherited hematological disorder among Iraqis. Studies have addressed its prevalence in several parts of the country, but neither the prevalence nor the molecular variants have been studied in the Sulymania province-northeastern Iraq. This study aimed at addressing the latter issue. Methods A total of 838 random healthy male individuals from Sulymania province were screened for glucose-6-phosphate dehydrogenase deficiency using a fluorescent spot test. If deficient, the results were confirmed by quantitative enzyme assay. Deficient individuals with adequate samples had their DNA extracted and analyzed for four deficient molecular variants using a Polymerase Chain Reaction-Restriction fragment polymorphism method. These variants were the Mediterranean (563 C →T), Chatham (1003 G→A), A-(202 G→A), and the Cosenza (1376 G→C) variants respectively. Results It was found that 50 individuals (6%) were glucose-6-phosphate dehydrogenase deficient. Forty of these individuals had adequate samples to analyze for the four deficient molecular variants. It was found that 30 (75%) had the Mediterranean and another 4 (10%) had the Chatham variants. No cases of A-or Cosenza variants were identified, leaving 6 cases uncharacterized. Conclusions This study documented a 6% prevalence of glucose-6-phosphate dehydrogenase deficiency in Sulymania, an area of northeast Iraq that has not been previously studied. Furthermore, it was found that Mediterranean and Chatham variants constitute the bulk of glucose 6 phosphate dehydrogenase deficient variants in this province. Duhok Med J 2011;5(2): 69-75.
... 11 Reports from throughout the world indicate that G6PD deficiency is a common cause for neonatal hyperbilirubinemia with the frequency of G6PD deficiency among jaundiced neonates reported in different studies. [15][16][17][18][19] The frequency of enzyme deficiencies in jaundiced newborns in Egypt varies by province, possibly because of the varied ethnic origins in coastal and seaside districts from the Egyptian Delta. 7,20,21 Recently, Abo El Fotoh and Risk reported a frequency of 8.9% in neonates with indirect hyperbilirubinemia in newborns admitted to NICU, Menoufia University Hospitals, Egypt. ...
Article
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Abstract Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked disorder which causes neonatal jaundice in most cases, and under certain conditions, its deficiency causes clinical variants including the spectrum of hemolytic manifestations. Objective: To determine the prevalence of G6PD deficiency in newborns. Design: A cross-sectional study Setting: Samples were analyzed in neonatal screening laboratory, Genetics, and Endocrinology unit, Menoufia University hospitals. Methods: In this study, 2782 dried blood spot samples on filter paper which were collected in collaboration with central laboratories of Ministry of Health were screened for G6PD deficiency. Quantitative measurement of G6PD enzyme activity from (DBS), using kits that depend on fluorometric analysis (WALLAC system, Perkin Elmer) where the fluorescence was measured in VICTOR2 D 1420 Multilabel counter Fluorometer. Any neonate with a value ≤1.3 U/g Hb was considered deficient. Main outcome measures: G6PD enzyme activity (U/g Hb). Results: Of 2782 screened newborns (1453 males and 1329 females), 2646 newborns were normal, 17 (0.6%) exhibited intermediate deficiency. 119 newborns (91 male newborns 28 female newborns) were found to be deficient for G6PD and overall prevalence was 4.3%. Enzyme activity values for G6PD deficiency was significantly higher in males as compared to female newborns, P value <0.05. Conclusion: The overall prevalence of G6PD deficiency was 4.3%, the matter that emphasizes the importance of programmed neonatal screening for early detection and prevention together with proper intervention and genetic counseling. Limitation: The authority to collect the samples for testing
... 11 Reports from throughout the world indicate that G6PD deficiency is a common cause for neonatal hyperbilirubinemia with the frequency of G6PD deficiency among jaundiced neonates reported in different studies. [15][16][17][18][19] The frequency of enzyme deficiencies in jaundiced newborns in Egypt varies by province, possibly because of the varied ethnic origins in coastal and seaside districts from the Egyptian Delta. 7,20,21 Recently, Abo El Fotoh and Risk reported a frequency of 8.9% in neonates with indirect hyperbilirubinemia in newborns admitted to NICU, Menoufia University Hospitals, Egypt. ...
Article
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Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked disorder which causes neonatal jaundice in most cases, and under certain conditions, can cause a spectrum of hemolytic manifestations. Objective: To determine the local prevalence of G6PD deficiency in newborns. Design: Cross-sectional. Setting: University hospital. Methods: Infants born during 2015 were prospectively screened for G6PD deficiency. Dried blood spot samples on filter paper were collected in collaboration with the central laboratories of the Ministry of Health. Quantitative measurement of G6PD enzyme activity was measured from the blood samples using fluorometric analysis. A value.
... Favizm, özellikle çocuk vakalarda görülse de dahili birimlerde yetişkinlerde de ortaya çıkmaktadır. Türkiye'de bakla üretiminin fazla olmasının yanında tüketiminin de fazla olduğu Çukurova bölgesinde vakaların fazla olduğu tespit edilmiştir (% 8,2) (Altay & Gümrük, 2008). ...
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KÇÜSBFD Özet Favizm; bakla yenmesi sonrasında 24-48 saat içinde gelişen akut hemolitik anemi şekli olup, erkek çocuklarda sıkça görülmektedir. Ancak nadiren de olsa kadın ve yetişkinlerde de ortaya çıkmaktadır. Bu makalede; nadir görülen kadın yetişkin bir favizm olgusunda gelişen akut böbrek yetersizliği tablosu, Gordon'un Fonksiyonel Sağlık Örüntüleri Modeli'ne göre incelenecektir. Anahtar kelimeler: Favizm, akut böbrek yetersizliği, hemşirelik, Gordon'un Fonksiyonel Sağlık Örüntüleri Modeli. Abstract Favism is a form of acute hemolytic anemia that develops within 24-48 hours after broad bean consumption and it is common in boys. However, it may rarely occur in women and adults. In this article, acute renal failure in a rarely seen female adult favism case will be examined according to Gordon's Health Patterns Model.
... Although individuals that were detected with deficiency in G6PD do not usually express any symptoms, additional mutations and disorders in some cases can induce massive intravascular hemolysis. The occurrence rate of the mental retardation due to deficiency in G6PD in Turkey is reported to vary from 0.25 to 18% depending on the geographical areas and/or ethnic groups studied (Altay and Gümrük 2008). CIC gene, known as mammalian homolog of Drosophila Capicua, is located in chromosome 19 and encodes repressor protein that belongs to high mobility group (HMG)-box superfamily of transcriptional repressors (Lam et al. 2006;Bettegowda et al. 2011). ...
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Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disease that causes acute or chronic hemolytic anemia and potentially leads to severe jaundice in response to oxidative agents. Capicua transcriptional repressor (CIC) is an important gene associated with mental retardation, autosomal dominant 45. Affiliated tissues including skin, brain, bone, and related phenotypes are intellectual disability and seizures. Clinical, biochemical, and whole exome analysis are carried out in a Turkish family. Mutation analysis of G6PD and CIC genes by Sanger sequencing in the whole family was carried out to reveal the effect of these mutations on the patient’s clinical outcome. Here, we present the case of epilepsy in an 8-year-old child with a hemizygous variation in G6PD gene and heterozygous mutation in CIC gene, resulting in focal epileptiform activity and hypsarrhythmia in electroencephalography (EEG), seizures, psychomotor retardation, speech impairment, intellectual disability, developmental regression, and learning difficulties. Whole exome sequencing confirmed the diagnosis of X-linked increased susceptibility for hemolytic anemia due to G6PD deficiency and mental retardation type 45 due to CIC variant, which explained the development of epileptic seizures. Considering CIC variant and relevant relation with the severity and course of the disease, G6PD mutations sustained through the family are defined as hereditary. Our findings could represent the importance of variants found in G6PD as well as CIC genes linked to the severity of epilepsy, which was presumed based on the significant changes in protein configuration.
... There are multiple studies conducted on Chatham mutation around world on different ethnic groups. Altay (13) reported the frequency of Chatham mutation to be 2% in 50 patients with G6PD deficiency in Turkey. Al-Alawi (14) found a frequency of 87% for Chatham mutation among 580 men of the Kurds in northern Iraq. ...
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Background and objective: Glucose 6-phosphate dehydrogenase (G6PD) deficiency is one of the most common human diseases with approximately 400 million people affected worldwide. G6PD Chatham is caused by 1003 G>A mutation leads to a severe enzymatic deficiency. The aim of the present study is to investigate the frequency rate of the Chatham mutations in the population of the North-West of Iran. Material And Method: In this study, by Rapid Genomic DNA Extraction (RGDE) method, from 90 peripheral blood samples of unrelated male and female patients with genetic deficiency of G6PD, DNA was extracted and after digestion by Bstx1 enzymes, in order to search for Chatham mutation, they were analyzed by means of PCR-RFLP and sequencing methods. Result: According to the results, Chatham mutation was observed in 10 samples (11.11%). Conclusion: This study showed that G6PD Chatham (1003 G>A) mutation is the second common mutation, after Mediterranean (563C>T), in the population of the North-West of Iran. Further studies are recommended to identify the mutation type of other varieties.
... G6PD deficiency is common in regions like Africa, Asia, the Mediterranean, and the Middle East where malaria is endemic (7). G6PD deficiency has been found in studies conducted in Turkey in different frequencies in various regions. ...
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Objective: This study aims to evaluate the demographic information, clinical and laboratory findings of patients with glucose 6 phosphate dehydrogenase deficiency. Material and methods: We collected data by reviewing files and electronic records of 65 patients with glucose 6 phosphate dehydrogenase deficiency under the age of 18 years who were followed up in our clinic between 2007 and 2019. Demographic, clinical, and laboratory features, family history, complications of the disease, and history of splenectomy and cholecystectomy were evaluated. Mean, standard deviation, and median values were used when descriptive analyses were presented. Results: The age of diagnosis ranged between 1-192 months and the median age of diagnosis was two months. Fifty-nine patients (90.7%) were boys and six (9.2%) were girls. The mean value of glucose 6 phosphate dehydrogenase enzyme on admission was 1,9±1,4 U/g of hemoglobin (Hb). Family history was pesent in 40% of patients in whom information was avaliable. The most common presentation was prolonged jaundice and the most common physical finding was jaundice. Splenomegaly was detected in none of the patients. Cholelithiasis was present in one of 21 patients who were evaluated with ultrasonography. None of the patients required splenectomy, cholecystectomy, and regular erythrocyte transfusion during follow-up. Conclusion: As G6PD variants with chronic hemolysis are not usually seen in Turkey, patients who required splenectomy, cholecystectomy, and regular erythrocyte transfusion were not detected. Although glucose 6 phosphate dehydrogenase deficiency is more common in males, it can also be seen in girls. In Turkey, glucose 6 phosphate dehydrogenase deficiency should be considered in patients presenting with prolonged jaundice.
Article
Newborn Screening for treatable genetic, endocrinologic, metabolic, and hematologic di seases is an important preventive public health program. Many of the Screened conditions present in the first two weeks of life and are life threatening. Because of the risk of metabolic acidosis, sei zures, coma, neurological devastation, or death, newborn screening is essential for prompt diagno sis and treatment, including dietary, hormonal, and other interventions. Newborn screening program began with phenylketonuria in the early 1960s. Guthrie developed both the bacterial inhibition as say to detect high concentrations of phenylalanine and the filter paper on which blood spots were collected. Newborn screening has expanded during the last 20 years, owing to the introduction of new technologies such as tandem mass spectrometry and DNA analysis. In 1995 American College of Medical Genetics proposed a uniform panel including 29 diseases. Expansion of the screening pa nel requires critical review, discussion, and performing pilot studies about the new diseases which will be added to the screening program, and may lead to problems including economical costs and ethical concerns. This review aimed to give an overview of newborn screening, including its target diseases and main problems. Investment in the technologies, combined with public and professio nal education and provision of a high quality, accessible system for confirmation of diagnoses, family counseling, initiation of treatment, and the opportunity to participate in research to develop new the rapies are required to maintain a successful newborn screening program in the future.
Article
What is known and objective: Wilson's disease (WD) is an inherited disorder in which defective biliary excretion of copper leads to its accumulation. Sodium dimercaptosulphonate (DMPS) is used as the primary therapy in China. Case description: We report two cases, with WD and G6PD deficiency, who developed haemolysis on treatment with DMPS, without any other known risk. After withdrawal of DMPS and administration of dexamethasone and packed red blood cells, the patients recovered. What is new and conclusion: Clinicians should keep in mind haemolysis as a potentially life-threatening side effect of DMPS in patients with G6PD.
Article
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive genetic defect that can cause hemolytic crisis. However, this disease affects both males and females. In Turkey, the frequency of this enzyme deficiency was reported to vary, from 0.25 to 18%, by the geographical area. Its prevalence in the northern Black Sea region of Turkey is unknown. The aims of this study were to assess the prevalence of G6PD deficiency in the northern region Turkey in children and adults with hyperbilirubinemia and hemolytic anemia. This report included a total of 976 G6PD enzyme results that were analyzed between May 2005 and January 2014. G6PD deficiency was detected in 5.0% of all patients. G6PD deficiency was significantly less frequent in females (1.9%, 6/323) than in males (6.6%, 43/653). G6PD deficiency was detected in 3.7% of infants with hyperbilirubinemia, 9.2% of children, and 4.5% of adults with hemolytic anemia. In both the newborn group and the group of children, G6PD deficiency was significantly more frequent in males. In the combined group of children (groups I and II), the proportion of males was 74% and 67% in all groups (P = .0008). In conclusion, in northern region of Turkey, G6PD deficiency is an important cause of neonatal hyperbilirubinemia and hemolytic crisis in children and adults. This study suggests that most pediatricians thought that G6PD deficiency is exclusively a male disease. For this reason, some female patients may have been undiagnosed.
Aim: The aim of this study was to investigate the prevalence of glucose-6-phospate dehydrogenase (G6PD) deficiency in newborn infants with neonatal hyperbilirubinaemia and to compare the clinical features of G6PD-deficient and G6PD-normal newborn infants. Methods: A total of 4906 term and preterm neonates with indirect hyperbilirubinaemia were retrospectively evaluated according to demographic, neonatal features, bilirubin levels, erythrocyte G6PD levels, other risk factors and treatments. Results: Among 4906 newborn infants with indirect hyperbilirubinaemia, 55 (1.12%) neonates were G6PD-deficient. In our study, no statistically significant difference was detected between G6PD-deficient and G6PD-normal infants in relation to the time of onset of jaundice, bilirubin levels and duration of phototherapy. However, the incidence of exchange transfusion in G6PD-deficient infants was 16.4% while it was only 3.3% in G6PD normal infants (P < 0.05). Conclusion: Testing for G6PD must be ordered to all newborns who are receiving phototherapy and especially to those who are coming from the high incident geographical regions and less responsive to phototherapy.
Article
Objectives Glucose-6-phosphate dehydrogenase (G6PD) has role in the Embden Meyerhof road. Any loss of its function causes NADPH to cease, leaving erythrocytes susceptible to oxidative damage resulting in acute hemolytic anemia attacks secondary to drugs or infection and favism. Because of X-linked recessive inheritance males are mainly affected. Being heterozygous, females have less severe clinical presentation. Case presentation G6PD deficiency was suspected in a six-year-old girl from an Iraqi family with a history of yellowing of skin and darkening of urine after eating broad beans. Besides the patient, G6PD levels were found low in the father and in two sisters who showed no symptoms. The father was found hemizygous and the three sisters were found heterozygous for NM_000402.4c.1093G>A(p.A365T)(6.Ala365Thr) mutation while the mother was normal. Conclusions G6PD enzyme deficiency can be seen in both genders, and it may be presented with different clinical manifestations even within the people having the same mutation.
Article
Objective: Glucose 6 phosphate dehydrogenase (G6PD) deficiency is the most frequent erythrocyte enzyme deficiency in the world. The clinical manifestations of G6PD deficiency are acu te hemolytic anemia episodes secondary to drugs or infections, favism, increased risk of newborn ja undice and chronic nonspherocytic hemolytic anemia. Our aim was to evaluate the clinical and laboratory features of patients with G6PD deficiency. Material and Methods: In this study, 28 cases with G6PD deficiency who were diagnosed between 2000 2010 in our pediatric hematology depart ment were presented. Results: Thirteen patients who admitted due to newborn jaundice between 1 and 6 days of age had no anemia. Their total bilirubin values were between 10.5 and 31.5 mg/dL and exc hange transfusion was done to two of them. Acute hemolytic anemia secondary to infections in 10 pa tients were mostly upper respiratory tract infections. Two of them were also accompanied with hemoglobinuria. In admission, Mb levels were between 3.2 and 10.3 g/dL with a mean of 6.63±1.95 g/dL. Four patients with favism had severe anemia requiring transfusion and accompanied with hemo globinuria. There was only one patient with chronic nonspherocytic hemolytic anemia who was as sociated with beta thalassemia and had a sequela of kernicterus after a neonatal jaundice. Conclusion: There is an increased incidence of G6PD deficiency in our country. Memolysis in patients secondary to infections is generally self limited, whereas in patients with favism anemia is severe and transfusi on may be required. In cases with neonatal jaundice due to risk of kernicterus early recognition is im portant, and newborn screening tests for this enzyme should be performed.
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A total of 102 apparently healthy and randomly selected Turks who either immigrated from Western Thrace or were still living there were studied for haemoglobin variants, high Hb A2 beta thalassaemia, G6PD deficiency, and haptoglobin types. The incidence of haemoglobins S and O Arab were 2.9 and 3.9% respectively. The incidence of high A2 beta thalassaemia was 10.8% and that of G6PD deficiency 5%. The gene frequencies of Hp1 and Hp2 were 0.326 and 0.674, respectively.
Article
Objective: Glucose 6-phosphate dehydrogenase (G6PD) deficiency manifests genetic polymorphism and prevalence of its varying among geographic regions and ethnic groups. G6PD deficiency is important in Gaziantep, Turkey because high deficiency prevalence was observed in Adana and Antakya, the neighbouring Mediterranean cities. Methods: In this study, sera from 306 subjects (166 female, 140 male) between 1-80 years old were for erythrocyte G6PD activity with International Committee for Standardization in Hematology (ICSH) method. After excluding the outliers, 95% interpercentile interval was accepted as reference limit. Results: In Gaziantep reference group erythrocyte G6PD activity limits for subjects over one year old are 6.4 - 13.2 U/g Hb, 30°C. Seven subjects with low enzyme activities indicate that G6PD deficiency frequency is approximately 2.3 ± 1% in Gaziantep. Conclusion: G6PD deficiency frequence is approximately 2.3 ± 1 % in Gaziantep which is higher than the mean prevalence in Turkey.
Article
We have determined the causative mutation in 12 cases of glucose-6-phosphate dehydrogenase deficiency associated with chronic non-spherocytic haemolytic anaemia. In 11 of them the mutation we found had been previously reported in unrelated individuals. These mutations comprise seven different missense mutations and a 24 base pair deletion, G6PD Nara, previously found in a Japanese boy. Repeated findings of the same mutations suggests that a limited number of amino acid changes can produce the CNSHA phenotype and be compatible with normal development. The one new mutation we have found, G6PD Serres, is 1082 C → T causing a 361 Ala → Val substitution in the dimer interface where most other severe G6PD mutations are found. Now that several patients with the same mutation have been reported we can compare the resulting clinical phenotypes. For each mutation we find a reasonably consistent clinical picture, ranging from mild (G6PD Clinic) through moderate (G6PD Nashville) to severe (G6PD Beverly Hills and G6PD Nara).
Article
Blood specimens were obtained from 281 inhabitants of an Eti-Turk village with a population of about 500. Starch gel (pH 8.6) and agar gel (pH 6.45) electrophoresis were performed in 279 of the specimens. Hb S was present in 105 partially interrelated persons (37.36%), three of whom had sickle-cell anaemia. Hb E was detected in 5 persons (1.79%), one of whom was a double heterozygote for Hb S and Hb E. One Hb S+alpha-thalassaemia and 7 Hb S with elevated Hb A'2 combinations were found. The beta-thalassaemia gene prevalence was 0.0377. Hb A2 was found in 4 persons (1.42%), and Hb F was slightly increased in 37 (22.3%) persons with a normal haemoglobin picture. Erythrocyte G-6-PD deficiency was 10% among males.
Article
We determined the activity level of glucose 6-phosphate dehydrogenase in 467 patients with cataract from northern Sardinia. Of 226 men, 18 (8%) had glucose 6-phosphate dehydrogenase deficiency. Of 241 women, 30 (12%) were heterozygous and two (1%) were homozygous for glucose 6-phosphate dehydrogenase deficiency. These prevalences were not significantly different from those expected in the general population. We concluded that patients with glucose 6-phosphate dehydrogenase deficiency do not have a higher risk of developing cataract.
Article
A possible correlation between development of cataract and glucose 6-phosphate dehydrogenase (G6PD) deficiency in red blood cells and lenses was investigated. The distribution of cataract types in both G6PD-positive and G6PD-deficient patients, the incidence of G6PD deficiency in cortical cataract groups and the distribution of G6PD-deficient cases according to age were determined. The results showed that quite a high percentage of cortical cataractous patients had G6PD deficiency in both red blood cells and lenses.
Article
A study of the relative 2dG6P utilization in mononuclear cells from a group of 150 women with breast cancer was undertaken to evaluate a possible negative correlation between G6PD deficiency and cancer, as suggested by some authors. Twenty-one women (14.00%) were heterozygotes and 2 were homozygotes (1.33%). The prevalence found was not different from that expected. It would therefore seem that the G6PD Mediterranean allele does not play a protective role against the development of breast cancer.
Article
It was the coincidence of the geographic range of sickle-cell disease with the range of malaria that first drew attention to the possibility that the sickle-cell gene might confer such resistance. Clinical evidence was harder to come by, but in 1954 Anthony C. Allison of the University of Oxford showed that children who were heterozygous for the sickle-cell gene had much less severe cases of the most lethal form of the disease than children who did not carry the gene. Because the parasity that causes malaria could not be maintained in a laboratory culture, however, the resistance could not be demonstrated at the cellular level, nor could its biochemical mechanism be estalished. Recently we have exploited a newly developed culture system to learn how the sickle-cell gene and some other variant genes that alter red-cell function confer resistance to malaria.
Article
135 Turks living in the vicinity of Antalya, a Turkish city on the Mediterranean coast, were studied for haemoglobin variants, beta-thalassaemia G-6-PD deficiency and haptoglobin types. The incidence of Hb-S was 2.3%. 8 beta-thalassaemic individuals with increased Hb-A2 and patient with 1 sickle cell-beta2-thalassaemia disease were found. The incidence of beta-thalassaemia with increased Hb-A2 was 6.7% and that of G-6-PD deficiency was 5.4%. The distribution of haptoglobin types in these people was very similar to that found in Turkish people in general; the only exception was the presence of Hp O in 2 individuals without haemolytic disorder. Gene frequencies of Hp1 and Hp2 were 0.26 and 0.7p4, respectively.
Article
Glucose-6-phosphate dehydrogenase (G6PD) is remarkable for its genetic diversity in humans. Many variants of G6PD have been described with wide ranging levels of enzyme activity and associated clinical symptoms. Fifty-eight different mutations have now been identified and these account for 97 named G6PD variants. The mutations are almost exclusively missense mutations, causing single amino acid substitutions. They are spread throughout the coding region of the gene, although there appears to be a cluster of mutations that cause a more severe clinical phenotype towards the 3' end of the gene. The absence of large deletions, frameshift mutations and nonsense mutations is consistent with the notion that a total lack of G6PD activity would be lethal.
Article
Molecular abnormalities of erythroenzymopathies associated with hereditary hemolytic anemia have been determined by means of molecular biology. Pyruvate kinase (PK) deficiency is the most common and well-characterized enzyme deficiency in the glycolytic pathway, and it causes hereditary hemolytic anemia. To date, 47 gene mutations have been identified. We identified one base deletion, one splicing mutation, and six distinct missense mutations in 12 unrelated families with a homozygous PK deficiency. Mutations located near the substrate or fructose-1,6- diphosphate binding site may change the conformation of the active site, resulting in a drastic loss of activity and severe clinical symptoms. Glucose-6-phosphate dehydrogenase (G6PD)deficiency is the most common metabolic disorder, and it is associated with chronic hemolytic anemia and/or drug- or infection-induced acute hemolytic attack. An estimated 400 million people are affected worldwide. The mutations responsible for about 78 variants have been determined. Some have polymorphic frequencies in different populations. Most variants are produced by one or two nucleotide substitutions. Molecular studies have disclosed that most of the class 1 G6PD variants associated with chronic hemolysis have the mutations surrounding either the substrate or the NADP binding site. Among rare enzymopathies, missense mutations have been determined in deficiencies of glucosephosphate isomerase, (TPI), phosphoglycerate kinase, and adenylate kinase. Compound heterozygosity with missense mutation and base deletion has been determined in deficiencies of hexokinase and diphosphoglyceromutase. Compound heterozygosity with missense and nonsense mutations has been identified in TPI deficiency. One base junction mutations resulting in abnormally spliced PFK-M mRNA have been identified in homozygous PFK deficiency. An exception is hemolytic anemia due to increased adenosine deaminase activity. The basic abnormality appears to result from the overproduction of a structurally normal enzyme.
Article
Molecular pathology of glucose-6-phosphate dehydrogenase (G6PD) was studied in 50 unrelated red cell G6PD deficient Turkish males. DNA analysis of G6PD genes revealed that 40 of the 50 subjects (80%) had G6PD B- 563T, 2 subjects (4%) A- (376G/202A) and one subject (2%) G6PD Chatam (1003A). The remaining 7 subjects (14%) did not have any of these three mutations.
Article
The case of an 8-year-old male child with severe kernicterus sequelae is presented in this paper. The child's hemoglobin value varied between 6.0 and 10.8 g/dL and his reticulocyte count ranged between 3.4 and 46.0% during the steady-state condition and hyperhemolytic crisis, respectively. A chronic hemolytic type of red cell G6PD deficiency was diagnosed. DNA studies indicate that the mutation was G6PD Guadalajara 1159 C --> T (387 Arg --> Cys) that is situated at the NADP binding site. Additionally, extra nucleotides of (TA) in the A(TA)n TAA motif of the promoter region of the uridine diphosphate-glucuronosyltransferase gene (UGT-1 A) were found to be homozygous in the patient. The coexistence of Gilbert syndrome with a chronic type of G6PD deficiency was suggested as a cause of neonatal hyperbilirubinemia leading to kernicterus.
Article
G6PD deficiency is a widespread abnormality of glucose-6-phosphate dehydrogenase, a red cell enzyme, which gives rise to hemolysis under oxidative stress. In Turkey, G6PD deficiency has a variable frequency in different regions. The prevalence and genotypes of G6PD deficiency are not known in Denizli province of the Aegean region of Turkey. Accordingly, this study was designed to investigate the prevalence of enzyme deficiency and the distribution of the Mediterranean mutation of G6PD in this region. A total of 1950 students (918 females, 1032 males, ages between 14 and 17) were screened by the Fluorescent Spot Test, and the G6PD deficiency was confirmed by quantitative spectrophotometric assay. The G6PD deficient subjects were further analyzed by the PCR/RFLP technique to identify the presence of the 563 T Mediterranean mutation. 24 of the subjects were found to be deficient in this enzyme, a frequency of 1.23%. Of 24 deficient subjects, 19 (79%) had the 563 T Mediterranean mutation. The frequency of G6PD enzyme deficiency appears to be low compared with those found in the malaria-endemic Mediterranean region of Turkey. The molecular pathology of G6PD deficiency is related to the G6PD-563 T mutation in the Denizli region.
Article
The aim of this article is to investigate the prevalence of Glucose-6-phosphate dehydrogenase (G6PD) deficiency in neonatal hyperbilirubinemia and to compare the clinical presentation and course of G6PD-deficient and normal patients. This study included a total of 624 term neonates with indirect hyperbilirubinemia from March 2001 to September 2004. Birth weight, sex, weight at admission, serum bilirubin at admission, maximum bilirubin, phototherapy duration, duration of hospitalization and the need for exchange transfusion were recorded. Laboratory evaluations included blood group typing of mother and newborn, complete blood count, peripheral blood smear, serum total and direct bilirubin, direct coombs test, reticulocyte count, serum-free T4 and TSH, urine analysis, urinary reducing substance and erythrocyte G6PD level. The analysis of the results indicated that 24 neonates with indirect hyperbilirubinemia were G6PD-deficient. No statistically significant difference was detected between G6PD-deficient and normal groups in relation to the time of onset of jaundice, reticulocyte count, hematocrit level, phototherapy duration and duration of hospitalization. Serum bilirubin at admission, maximum serum bilirubin level and the need for exchange transfusion were higher in G6PD-deficient group. From this study our conclusion is that the G6PD deficiency is a common enzyme defect causing severe indirect hyperbilirubinemia which may result in kernicterus. Early neonatal screening programmes should be instituted in countries where the deficiency is prevalent.
Article
G6PD deficiency may render afflicted individuals more susceptible to certain degenerative diseases. To clarify the relationship between G6PD deficiency and cataract, blood G6PD activity was determined in patients with cataract in Taiwan. The cases and hospital-based controls were recruited from the medical outpatient department and from the physical checkup department at Chang Gung Memorial Hospital, respectively. A questionnaire survey was used to determine associations between cataracts and their risk factors. G6PD activity in fresh RBC was quantitatively measured and genomic DNA was extracted from lymphocyte nuclei. The mean blood G6PD activity among cataract patients (278.1 U/10[12] RBC) was similar to that of normals (288.0 U/10[12] RBC). No statistically significant difference in the distribution of G6PD activities as grouped by an increment of 100 U/[10, 12] RBC was observed between cataract patients and normal subjects. The predominant forms of G6PD gene mutation (cDNA 1376 G to T and 95 A to G) were both found in the patients with cataract. The adjusted odds ratio for cataract was 1.21 for every decrement of 100 U/10[12] RBC of G6PD activity in these subjects. These data indicate that G6PD activity is not a potential risk factor for senile cataract in Taiwan.
Article
Newborn G6PD deficiency screening has been recognized as an essential component of public health care in most developed and some Mediterranean countries. However, such screening is yet to be widely embraced in Turkey. The aim of the present study was to determine the normal values of G6PD and deficiency prevalence of this enzyme in different age groups of people living in the western region of Turkey and accordingly inform and educate about favism to those asymptomatic carriers who usually are not aware of their G6PD deficient status. A total of 1421 clinically healthy individuals without evidence of leukocytosis or thrombocytosis were included in the study. Activity of G6PD was quantitatively measured. Normal mean values of G6PD in healthy males were 8.94 +/- 8.65 IU/g Hb (or 231.73 +/- 43.16 IU/10(12) RBC), in females were 9.16 +/- 3.78 IU/g Hb (or 219.9 +/- 43.1 IU/10(12) RBC). The frequencies of severe and mild G6PD deficiencies were 0.44% and 6.07% in females, respectively, whereas in males it was 7.24%. Overall frequency of the G6PD-deficient phenotype was detected as 6.9%. There is no significant statistical difference of G6PD activity between males and females, although frequency of the G6PD-deficient phenotype is relatively high in western Turkey. The results emphasize a need for screening for G6PD deficiency before prescribing anti-malarial therapy with drugs like primaquine to patients in this region of Turkey known for its prevalence of malaria.