Co-inheritance of Alpha & Beta-Thalassemia: Case Report of a Bangladeshi Individual
Abstract
The double heterozygous state of ? and ? thalassemia may alter the haematological indices and cause diagnostic challenges. Compound heterozygosity plays a vital role in modifying treatment plans and modes of genetic counselling. The case of this study is a co-inheritance of ? and ? thalassemia that is unusually reported in the context of Bangladesh due to the lack of a national screening program, documentation, and diagnosis facility. A 26-year-old female patient attended a private hospital with complaints of weakness and lethargy. She stated having received multiple blood transfusions over the previous three years. On general physical examination she was found anaemic coincided with the haematological study report. Her haemoglobin level was 7.40 g/dL with haematocrit 24.20%, mean corpuscular volume 57.6 fL, mean corpuscular haemoglobin 17.6 pg, and mean corpuscular haemoglobin concentration 30.6 g/dL. Serum ferritin level was 1210.94 ng/mL indicating an overload of iron. Hb electrophoresis revealed haemoglobin A2 5.3% which was more than the reference range suggestive of beta thalassemia minor. The genetic test confirmed heterozygosis for SEA and ?4.2 compound along with heterozygosis in cd15 (TGG > TAG) indicative of co-inheritance of alpha and beta-thalassemia. Necessary management was given along with diet advice. Genetic counselling was strongly recommended with frequent follow-ups of Hb and iron profile. It was suggested to the patient for Haemoglobin electrophoresis of all the family members and relatives as it is a hereditary disease.
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Copyright (c) 2024 Maruf Al Hasan, Tamanna Nourin
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