Glucose 6 Phosphate Dehydrogenase Deficiency and Hemoglobinopathy in South Western Region Nepal: A Boon or Burden

Abstract

Objectives: The study was carried out to optimize the phenotypic method to characterize the sickle cell trait (SCT), sickle cell anaemia (SCA) and β-thalassemia (β-TT) suspected sample from tharu community of South Western province-5, Nepal. SCT and SCA were further evaluated by genotypic method employing amplification refractory mutation system (ARMS PCR). Moreover, Glucose 6 Phosphate Dehydrogenase (G6PD) was estimated in those hemoglobinopathy to observe its prevalence. The accurate and reliable method can play an important role in reduction of morbidity and mortality rate. Results: The 100 suspected cases were subjected to phenotypic method adopting cellulose acetate electrophoresis and genotypic metod using ARMS PCR which portraits (5%) SCA positive test showing HBS/HBS, (38%) SCT positive trait HBA/HBS and (36%) cases normal HBA/HBA. β-TT (21%) cases were confirmed by electropherogram. G6PD deficiency was observed in (40%) of SCA, (18.4%) of SCT, (4.8%) of β-TT and (2.8%) in normal cases. Increased G6PD were developed only in SCT (5.3 %) and β-TT (4.8%). The study highlighted sickle cell disorder (SCD) and β-TT as the most common hemoglobinopathy coexisting with G6PD deficiency. Though hemoglobinopathy sometime could be protective in malaria but G6PD deficiency can cause massive hemolysis which may exacerbate the condition.

Qualitative and quantitative assay of glucose 6 phosphate dehydrogenase in patients attending tertiary care center

“…The male subjects having G6PD deficiency outnumbered the number female subjects in our study, similar to the study by Das K P et alin which all the deficient subjects were males and the study conducted by Gautam N et al in which 81.8% of the deficient subjects were males with overall 11% deficiency of G6PD in southwestern region province number 5 of Nepal [18,19]. This suggests the fact that G6PD deficiency is an x-linked genetic disorder and males are more prone to be affected than females.…”

Hydroxyurea and blood transfusion therapy for Sickle cell disease in South Asia: inconsistent treatment of a neglected disease

“…For instance, studies from Sri Lanka and Bangladesh have shown that the prevalence of sickle haemoglobin was relatively lower than that of other haemoglobinopathies in these regions [63][64][65]. Sickle haemoglobin has been reported at comparatively higher prevalence from the Tharu community of Western Nepal and Pakistan [66,67]. Although, the burden of the SCD in Tharu population had been acknowledged [68], no information was available of any evidence-based therapeutic strategy for patients with SCD from Nepal.…”

Qualitative and quantitative assay of glucose 6 phosphate dehydrogenase in patients attending tertiary care center

“…Gautam N et al in which 81.8% of the de cient subjects were males with overall 11% de ciency of G6PD in southwestern region province number 5 of Nepal. [18,19] This suggests the fact that G6PD de ciency is an x-linked genetic disorder and males are more prone to be affected than females.…”