A case report of co-occurrence of hemoglobinopathy EE and glucose-6-phosphate dehydrogenase A+ variant
2023
Noymi Basumatary | Dipankar Baruah | Paresh Kumar Sarma | Jatin Sarmah
Hemoglobinopathies and glucose-6-phosphate dehydrogenase (G6PD) deficiency are two genetic disorders prevalent in malaria-endemic regions. There are conflicting reports on the co-occurrence of G6PD deficiency and hemoglobinopathies. The present study was conducted to explore the co-occurrence (if any) of the two disorders among ethnic populations of Proto-Australoid and Mongoloid origin races. Out of 2310 subjects screened, only one case was detected with both disorders. The case described here is an asymptomatic female of 52 years detected with both hemoglobinopathy EE (HbEE) and G6PD A+ variant. Lower levels of hemoglobin (Hb) %, mean corpuscular hemoglobin (MCH), MCH concentration, platelets, and white blood cell count, and high red cell distribution width and fetal Hb% were recorded. Family screening revealed both daughters as HbAE and normal G6PD. The husband had HbAA and normal G6PD. Out of six siblings of the case subject, two were detected as HbEE and four as HbAE; G6PD was normal.
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