Abstract
Hemoglobinopathies constitute the most common genetic diseases in the world. In India, both beta-thalassemia and structural hemoglobin variants, such as hemoglobin S (HbS), hemoglobin D (HbD), and hemoglobin E (HbE), are common and pose significant health problem, these variants show heterozygous state along with beta-thalassemia. Compound heterozygosity among hemoglobin variants is very rare. Cation-exchange high-performance liquid chromatography (CE HPLC) provides accurate and reliable diagnosis of various hemoglobin variants. Here, we report an index case of double heterozygous hemoglobinopathy, hemoglobin Q (HbQ) India/HbD Punjab (ααQ India-ββD Punjab) using CE HPLC. This is the fifth report of double heterozygosity for HbQ India/HbD Punjab globally and fourth case report from India to the best of our knowledge.
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