Abstract:
Haemoglobin D (Hb D) is a haemoglobin variant mainly seen in the Punjab area of
India and Pakistan and Xinjiang Uygur Autonomous region of China. Badagas are
the indigenous peoples of the Nilgiri Hill in Tamilnadu, India. Though sickle cell
was first observed in India from the Nilgiris, other haemoglobin variants were not
yet reported. Present study reports the presence and co-existence of Hb D among
the indigenous Badagas of the Nilgiris. The existence of Hb D was observed while
assessing prevalence of sickle cell disease among various sub sects of the
indigenous Badagas in the Nilgiris. Among 1800 samples analyzed, the disease
was identified from a 50 year old sickle cell patient. The presence of the disease
was confirmed by micro capillary analysis and the Restriction Fragment Length
Polymorphism (RFLP) techniques. The normal case was confirmed by restriction
digestion of 469bp amplified products to 201 and 268bp fragments, while mutant
remains non-fragmented. The nature of the mutation was further confirmed by
sequencing of the amplified product. The prevalence of this disease in India was
estimated to 0.06% percentage only and the coexistence was reported is a rare
clinical condition. Moreover, this is the first report of the existence of Hb D Punjab
(also known as Los Angeles) and its co-existence with sickle disease in a southern
Indian indigenous population raising many doubts in their origin.
