"Thus, the presence of rare mutations with debilitating phenotypic manifestations imposes a significant challenge to the successful implementation of prenatal diagnosis-based disease management strategies. A preliminary study reported that the number of thalassaemic births in Bangladesh is 7483 per year (Khan et al., 2005). This study also revealed that 7% of the population are carriers of this trait. "
[Show abstract][Hide abstract] ABSTRACT: Screening of mutations that cause β-thalassaemia in the Bangladeshi population led to the identification of a patient with a combination of two rare mutations, Hb Monroe and HBB: -92 C > G. The β-thalassaemia major male individual was transfusion-dependent and had an atypical β-globin gene cluster haplotype. Of the two mutations, Hb Monroe has been characterized in detail. Clinical effects of the other mutation, HBB: -92 C > G, are unknown so far. Bioinformatics analyses were carried out to predict the possible effect of this mutation. These analyses revealed the presence of a putative binding site for Egr1, a transcription factor, within the HBB: -92 region. Our literature survey suggests a close relationship between different phenotypic manifestations of β-thalassaemia and Egr1 expression.
[Show abstract][Hide abstract] ABSTRACT: Iron deficiency was absent in a recent population assessment of rural Bangladeshi women exhibiting anemia (57%), suggesting other causes of low hemoglobin. We assessed the relative influence on anemia of thalassemia, groundwater arsenic and iron, and diet among women of reproductive age living in rural Bangladesh. Women (n=207) sampled from a previous antenatal nutrient intervention trial in rural Bangladesh were visited during two seasons in 2008. Collected data included 7-day dietary and 24-hour drinking water intake recalls, 7-day morbidity recall, anthropometry, and drinking water arsenic and iron concentrations. Capillary blood was analyzed for iron (plasma ferritin, soluble transferrin receptor), inflammation (C-reactive protein) and thalassemia (β thalassemia and Hb E) status. In stratified, adjusted analyses, only parity was associated with anemia (odds ratio, OR (95% CI): 11.34 (1.94, 66.15)) for those with thalassemia (28% prevalent). In contrast, groundwater iron intake (>30 mg/d, 0.48 (0.24, 0.96)) and wasting (2.32 (1.17, 4.62)) were associated with anemia among those without thalassemia. Elevated groundwater arsenic (>50 μg/L, 12% of tubewells) and a diverse diet were unrelated to anemia regardless of thalassemia diagnosis (p>0.70 and >0.47, respectively). Among women in this typical rural Bangladeshi area, the prevalence of thalassemia was high and, unlike iron deficiency which was absent most likely due to high iron intake from groundwater, contributed to the risk of anemia. In such settings, the influence of environmental sources of iron and the role of thalassemias in contributing to anemia at the population level may be underappreciated.
Asia Pacific Journal of Clinical Nutrition 09/2012; 21(3):416-24. · 1.70 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Background: Allelic distribution of major blood groups (ABO and rhesus) has not been
defined in Bangladeshi population. Determinants of blood group frequency in this region have not been studied properly.
Aim: To determine ABO and rhesus blood group frequency and allelic distribution in a
multiethnic area of Bangladesh and to explore possible genetic, racial and environmental factors influence as determinants of major blood groups.
Subjects and methods: Data collected retrospectively from blood group register of Rangamati General Hospital (2006–2011). Four tribal (Chakma, Marma, Tanchangya and Tripura) and general Bengali population were included in the study.
Results: Collectively all tribal had distinct ABO phenotypic frequency (B> A >O >AB)
which is different from Bengali population (O> B >A > AB). Tripura’s showed a unique pattern of A > B> AB > O. Overall tribal had higher frequency of B and AB group (P < 0.0001). Though differing in proportion; allelic frequency was O >B > A in all study groups except Tripura (A >O > B). Rhesus negative group was very uncommon in study groups. Data among tribal suggest their common origin as well as drift from original population due to possible founder effect among Tripura’s. Despite being malaria endemic zone the protective group O was less (P <0.0001) among native tribal (23%) and high among migrating Bengali (34%).
Egyptian Journal of Medical Human Genetics 02/2015; DOI:10.1016/j.ejmhg.2015.01.002
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