Content uploaded by Pankaj Malhotra
Author content
All content in this area was uploaded by Pankaj Malhotra on Apr 28, 2018
Content may be subject to copyright.
A preview of the PDF is not available
Compound Heterozygous Hb SD Disease Presenting As Sickle Cell Crisis: First Report In Pregnancy
ResearchGate has not been able to resolve any citations for this publication.
Thalassemia and thalassemic hemoglobinopathies pose serious health problem leading to severe morbidity and mortality in Indian population. Plethora of hemoglobin variants is prevalent in multiethnic Indian population. The aim of the present study was to analyze laboratory aspects, namely, hematological profile and HPLC findings of the hemoglobin variants detected, and to discuss problems that we faced in diagnosis in a routine clinical laboratory. We screened a total of 4800 cases in a hospital based population of North India in a 2-years period of by automated HPLC method using the Variant Hemoglobin Testing System (Variant II Beta Thalassemia Short Program, Bio-Rad Laboratories) under the experimental conditions specified by the manufacturer. Whole blood in EDTA was used and red cell indices were determined using automated hematology analyzer. We detected 290 cases with abnormal variants in which beta thalassemia was the most common followed by hemoglobin E. Here, we discuss the laboratory aspects of various hemoglobin disorders and diagnostic difficulties in cases like borderline HbA2 values, presence of silent mutation, alpha thalassemia gene, and few rare variants which at times require correlation with genetic study. Special attention was given to HbA2 level even in presence of a structural variant to rule out coinheritance of beta thalassemia gene.
Higher frequencies of pregnancy complications have been reported among women with sickle cell disease (SCD) compared with those without SCD; however, past studies are limited by small sample size, narrow geographic area, and use of hospital discharge data. We compared the prevalence of maternal complications among intrapartum and postpartum women with SCD to those without SCD in a large, geographically diverse sample. Data from the 2004-2010 Truven Health MarketScan(®) Multi-State Medicaid databases were used to assess the prevalence of maternal complications among intrapartum and postpartum women 15-44 years of age with and without SCD whose race was reported as black. The comparison group of women without SCD was further divided into those with chronic conditions associated with multi-organ failure and those without chronic conditions. Multivariable log-binomial regression models were used to calculate adjusted prevalence ratios for outcomes for women with SCD compared with women in the two comparison groups. Of the 335,348 black women with a delivery during 2004-2010, 1,526 had a diagnosis of SCD (0.5 %). Compared with women without SCD who had chronic conditions, women with SCD had higher prevalence of deep vein thrombosis, pulmonary embolism, obstetric shock, pneumonia, sepsis, postpartum infection, and transfusions. SCD was also positively associated with acute renal failure, cerebrovascular disorder, respiratory distress syndrome, eclampsia, postpartum hemorrhage, preterm birth, and ventilation when compared with women without SCD and chronic conditions. Overall, women with SCD have increased prevalence of pregnancy complications, even when compared with a group of women with similar risk for multi-organ failure.
Although sickle cell anemia (SCA) in India is believed to have a mild clinical presentation, few studies report severe disease in many patients from central India. Hence, we have retrospectively studied 316 children with SCA who were followed up for a period of 5.8±5.7 years. There were 55.4 blood transfusions, 43.3 episodes of vasoocclusive crises requiring hospitalization, and 108.9 hospitalizations per 100 person years. Ninety six (30%) patients had severe disease whereas 74 patients also fulfilled the criteria for hydroxyurea therapy. Significant proportion of children with sickle cell anemia from central India present with severe clinical presentation and require regular medical attention.
Compound heterozygous HbSD-Punjab is an uncommon hemoglobinopathy encountered in Indians. Limited literature is available about its clinical course. The aim of this study was to describe the clinical and hematological profile of HbSD-Punjab patients from North India.
HbSD-Punjab patients diagnosed in the hematology clinics between year 2000 and 2010 were reviewed retrospectively. The diagnosis was established using high-performance liquid chromatography, molecular analysis, and family screening. Clinical details, laboratory parameters, and therapy details were recorded from case records.
Ten patients were identified. Median age at onset of symptoms was 3.5 years (interquartile range [IQR], 1.9 to 7.2). Clinical presentation included: anemia in 3, painful vaso-occlusive crisis in 2, acute chest syndrome in 2, and 3 were diagnosed incidentally. All had moderate to severe anemia (mean hemoglobin [Hb]: 6.8±1.2 g/dL). Eight required red cell transfusions (median: 3 [IQR, 2 to 8]). On high-performance liquid chromatography, median HbF, HbD, and HbS were 12.1% (IQR, 9 to 18.3), 39.7% (IQR, 35 to 42), and 38.5% (IQR, 29 to 43). Five patients received hydroxyurea (HDU), median dose: 20 mg/kg/d (IQR, 18 to 23) with median duration of 7 months (IQR; 6, 45). Increment in Hb and reduction in painful crisis was observed in response to HDU.
HbSD-Punjab has a heterogeneous clinical presentation. Anemia and sickle crises are quite common. HDU may be considered for those presenting with severe phenotype.
Pregnant women with sickle cell disease appear to be more likely to experience antepartum, intrapartum, and postpartum complications when compared with unaffected women. Access to high-risk obstetric care, patient education, and close follow-up is important to minimize maternal morbidity and mortality. A high index of suspicion and good diagnostic acumen is necessary to obtain optimal results in the pregnant patient affected by sickle cell crisis.
Sickle cell disease (SCD) affects millions of people across the globe. In the United States, approximately 70,000 to 100,000 people have the disease, and 2 million have the sickle cell trait. SCD occurs once in every 500 African American births, and once in 36,000 Hispanic American births. Women with SCD can have more adverse maternal outcomes such as preeclampsia, eclampsia, preterm labor, placental abruption, intrauterine growth restriction, and low birthweight. Providing comprehensive nursing care to women with SCD is a challenge, particularly during labor and birth, with nursing management aimed at attaining healthy birth outcomes while preventing or treating manifestations of the disease. Labor and delivery nurses are responsible for specific knowledge and care practices for these women, including differentiating the pain of sickle cell crisis from contraction pain and monitoring maternal and fetal oxygenation, as oxygenation is jeopardized in laboring sickle cell patients. Intrapartum nursing care also requires vigilance in the need for emergency cesarean birth. Nursing interventions include symptom management, pain management, ensuring patient safety, and educating patients. Coordination of care and clear communication between the members of the healthcare team, patient, and family are essential elements to ensure a positive outcome for perinatal patients with SCD.
The usefulness of cation exchange high performance liquid chromatography (CE-HPLC) as a tool for detection of thalassaemia/haemoglobin variants was evaluated in a prospective study in a tertiary care centre in north India. We also tried to evaluate the effect of concurrent nutritional deficiency on the HPLC pattern in the local ethnic population.
A total of 800 blood samples were analyzed on the Bio-Rad Variant HPLC system by β-thal short program. The retention times, proportion of the haemoglobin (%), and the peak characteristics for all haemoglobin fractions were recorded. Alkaline and acid haemoglobin electrophoresis was performed to document the identities of the haemoglobin variants, wherever necessary. Many cases were subjected to family studies for a definitive diagnosis.
Among 800 samples tested, 553 (69.1%) were found to have normal HPLC pattern. Apart from β- thalassaemia, nine additional variants were encountered; HbS (2.8%), HbE (2.5%) and HbD (1.1%) being the most common variants present. Other variants included Hb Q-India, Hb-Lepore, δβ-thalassemia/ HPFH, HbD-Iran, HbJ-Meerut and HbH disease. There was a significant decrease in the level of HbA2 associated with iron deficiency anaemia (IDA) (P=0.004) and increase in megaloblastic anaemia (P<0.001) among subjects with normal HPLC pattern.
HPLC was found to be a simple, rapid and reliable method for the detection of hemoglobin variants. An accurate diagnosis can be provided in majority of cases by use of retention time, proportion of total haemoglobin, and peak characteristics of HPLC. Haemoglobin electrophoresis and family studies play a valuable role in difficult cases. Concurrent nutritional deficiency also has an effect on HbA 2 levels.
The term sickle cell disease (SSD) encompasses several different sickle hemoglobinopathies. The ability to predict the clinical course of SSD during pregnancy is difficult. This article examines pregnancy-associated complications in SSD and the management of sickle cell disorders in pregnant women. Outcomes have improved for pregnant women with SSD and nowadays the majority can achieve a successful live birth. However, pregnancy is still associated with an increased incidence of morbidity and mortality. Optimal management during pregnancy should be directed at preventing pain crises, chronic organ damage, optimization of fetal health and minimizing early maternal mortality using a multidisciplinary team approach and prompt, effective and safe relief of acute pain episodes.
Compound heterozygosity for βS/βD results in a severe hemolytic anemia and a clinical syndrome similar to that of sickle cell disease. Here, we report a case of HbSD Punjab disease. A 10 year old female child residing at Nagpur, Maharashtra presented with severe hemolytic anemia, hepatosplenomegaly and occasional pains in bones and abdomen. Initially, she was thought to be a case of sickle cell anemia, however, with the help of HPLC and molecular analysis it was confirmed as HbSD Punjab disease.
An increasing number of sickle cell disease patients are deciding to bear children. The high risk of fetal and maternal complications in pregnant sickle cell disease patients mandates multidisciplinary management. Risks include spontaneous abortion, vasculorenal syndrome, fetal growth retardation, and fetal death in utero. The rates of cesarean section, maternofetal infection, and maternal death are higher than in the population at large. The diagnosis should be made prior to conception or during early pregnancy. Frequent visits with the obstetrician, hematologist, and anesthesiologist/intensivist are mandatory. Exchange transfusion or blood transfusion may be indicated in patients with a history of serious obstetrical or hematologic complications. Risks are highest in late pregnancy, during delivery, and in the postpartal period. However, the entire pregnancy is a high-risk period that warrants close monitoring.