Abstract
Hemoglobinopathies are the most common hereditary disorders in India and pose a major health problem. Both beta-thalassemia and structural hemoglobin (Hb) variants are relatively common in North-Western India. Here, we report a case of a 26-year-old female (caste-Lohana) who came to us for premarital screening hemoglobinopathy. A complete blood count was done on automated cell counter. Hb analysis was carried out using high-performance liquid chromatography (HPLC) Bio-Rad VARIANT II Hb Testing System. HPLC analysis showed a peak in the unknown window with retention time (RT): 4.72 min and area: 18.9% and S-window with RT: 4.33 min and area: 0.5%, which was suggestive of Hb Q India. Further workup was done on other family members also. And found that the mother and sister of the patient also had similar findings (Hb Q India) and the father of the patient was positive for beta-thalassemia trait. Hb Q India is a rare hemoglobinopathy, which presents in mostly heterozygous form. The inheritance of Hb Q India is autosomal dominant.
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