Glucose 6 phosphate dehydrogenase deficiency and hemoglobinopathy in South Western Region Nepal: a boon or burden

Abstract

ObjectivesThe study was carried out to optimize the phenotypic method to characterize the sickle cell trait (SCT), sickle cell anemia (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.ResultsThe 100 suspected cases were subjected to phenotypic method adopting cellulose acetate electrophoresis and genotypic method 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.

The co-existence of glucose-6-phosphate dehydrogenase deficiency among individuals with hemoglobinopathies and their effects on red cellindices

“…According to the current study, the overall variations in G6PD enzyme level were as follows: Deficiency was observed in 36% and 12.24% of cases of SCD and BTT, respectively, while an increased G6PD level was established in 28.0% SCT and 55.10% BTT. The results diverge from those of a study done by Gautam et al 2019 21 that claimed G6PD deficiency was found in 20.93% SCD and 4.8% BTT and an elevated G6PD level was only found in 5.3% SCT and 4.8% BTT. It's likely that there are differences between the normal range of enzyme activities and the prevalence of G6PDD.…”

Sickle cell anemia (SCA) and the impact of G6PD activity on the Hematological parameters

“…Fasola et al (2019) found the prevalence of G6PD deficiency was higher in SCD patients than in controls (28.6% vs. 22.3%, P = 0.18), and SCD patients were twice as likely to have enzyme activities below 3.0 IU/gHb [18]. Gautam et al (2019) discovered G6PD deficiency in 40% of SCA, 18.4% of SCT, 4.8% of TT, and 2.8% of normal cases. He discovered that only SCT (5.3%) and β-TT (4.8%) developed increased G6PD.…”

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 – 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.…”