Compound heterozygosity for hemoglobin S and hemoglobin E in a family of Proto-Australoid origin: a case report.

Noymi Basumatary, Dipankar Baruah, Paresh Kumar Sarma, Jatin Sarmah

Journal of medical case reports 2021 Aug 02

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Hemoglobin S and E are commonly occurring hemoglobin variants among distinctly separate tribal populations of Central and Northeast India, respectively. Combined heterozygosity for hemoglobin S and E or hemoglobin SE disease is a benign clinical condition with rare incidence. Reports of approximately 46 hemoglobin SE cases are available worldwide. We conducted a screening program to study the prevalence of hemoglobin variants among the tribal population working in the tea estates of Northeast India. A total of 551 subjects were screened, and complete blood count was performed. Based on their hematological profiles, hemoglobin typing was done for 218 subjects. We describe a case of an adolescent male of Munda tribe diagnosed as double heterozygous for hemoglobin S and E. On screening of the nuclear family of the subject, the mother was found to have hemoglobin E disease and father as hemoglobin S trait. Both siblings of the subject were diagnosed as hemoglobin E trait. This is the first case of compound heterozygous for hemoglobin S and E to be reported from the tea tribes of Assam, India. © 2021. The Author(s).

Citation

Noymi Basumatary, Dipankar Baruah, Paresh Kumar Sarma, Jatin Sarmah. Compound heterozygosity for hemoglobin S and hemoglobin E in a family of Proto-Australoid origin: a case report. Journal of medical case reports. 2021 Aug 02;15(1):386