Compound heterozygosity for hemoglobin D and hemoglobin E

Mohammad Mizanur Rahman,Masuda Begum,Debashish Saha,Lutfunnahar Khan,Arif Ahmed Khan

doi:10.3329/bsmmuj.v9i4.30244

Mohammad Mizanur Rahman, Masuda Begum + Show 3 more

Open Access

https://doi.org/10.3329/bsmmuj.v9i4.30244

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Abstract

<p>We present two cases of compound heterozygous state for hemoglobin (Hb) D and HbE who reported to the hospital for fever and incidentally found moderate microcytic hypochromic anemia. Later on they were investigated by capillary hemoglobin electrophoresis. Capillary Hb electrophoresis revealed compound heterozygous state for hemoglobin D and hemoglobin E. On family screening, father of one patient turned out to be HbD trait and mother as HbE trait. Due to unavailability of parents and siblings of other patient, family screening was not possible. Compound or double heterozygous state for HbD and HbE is rare. There are only six published reported cases of such double heterozygous state for HbD and HbE in Southeast Asia. Marriage between third degree relatives, which are more common among Muslims as well as inter caste marriages, common in some states of India have resulted into this compound heterozygous condition. Such double heterozygous case is clinically silent as compared to HbE/beta thalassemia or HbD/beta thalassemia.</p>

Highlights

Amplitude of abnormal hemoglobins varies notably with geographic location and racial groups
hemoglobin E (HbE) ( 26Glu →Lys) is most prevalent in Southeast Asia, affecting more than 50% of the population in eastern Thailand (Surin Province) and from 20 to 45% in other parts of Thailand and in Cambodia, Laos and Burma
We report two cases of double heterozygous state for HbE and hemoglobin D (HbD) which is rare in this country

Summary

Introduction

Amplitude of abnormal hemoglobins varies notably with geographic location and racial groups. We report two cases of double heterozygous state for HbE and HbD which is rare in this country. Hb A2 (MCV) 64.2 fL, mean corpuscular hemoglobin (MCH) 22.8 pg, mean corpuscular hemoglobin concentration (MCHC) 35.5 g/dL, red cell distribution width (RDW) 15.4% and other parameters were not remarkable and capillary Hb electrophoresis revealed HbA 21.3%, HbD 52.3%, HbE 22.5% and HbA2 3.9% (Figure 1A) indicating the diagnosis of HbD–HbE double heterozygous.

Results

Conclusion