Origin and ancestry of the Badagas of Nilgiris, an indigenous community of Nilgiris, Tamil Nadu in India, is a controversial topic. During our massive screening for haemoglobinopathies among Badagas, we identified a rare south Indian haemoglobin variant, the haemoglobin D (Hb D) Punjab (HBB: c.364G>C; rs33946267). The observed Hb D cases were double heterozygous with sickle cell trait (HbSD-Punjab) and manifested symptoms. The beta-globin distal promoter motif (-530 cap site BP1U) sequencing revealed a characteristic heterozygous combination of Arab-Indian sickle haplotype ((AT) (T)) with universally common beta gene haplotype ((AT) (T)). The report is a pioneer one informing the presence of Hb-D Punjab from an indigenous or aboriginal group of southern India. By the above information, we support the theory of unicentric tribal origin and distribution during Harappan civilization.
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Arab-Indian -530 ß-distal promoter haplotype and sickle/Hb D heterozygosis in Badagas of Nilgiris: is it suggestive of Harappan origin?
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