EAS Publisher | Difficulty in Diagnosing a Hemoglobinopathy: Heterozygous Beta-Thalassemia Associated with Alpha Hemoglobin Variant

Difficulty in Diagnosing a Hemoglobinopathy: Heterozygous Beta-Thalassemia Associated with Alpha Hemoglobin Variant

DOI : https://doi.org/10.36344/ccijmb.2023.v05i01.004

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The diagnosis of a hemoglobinopathy is not always easy; it is based on a combination of clinical, hematological and biochemical findings, possibly including a genetic study of globin chains. Interpretation of biochemical profiles can be complicated when two hemoglobin abnormalities are associated. We report the case of a globin alpha variant associated with beta-thalassemia in a family of Moroccan origin that underwent a biological investigation. The discovery was fortuitous during the determination of HbA1c by high performance liquid chromatography. The diagnosis was confirmed by the use of complementary techniques, including capillary electrophoresis at alkaline pH and agarose gel electrophoresis at acid pH, associated with the hematological and biochemical data of the patient and his family.

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Lecturer, Dept. of Pharmacology and Therapeutics, Shaheed Monsur Ali Medical College & Hospital, Uttara, Dhaka-1230, Bangladesh

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