First Observation of Hb Lepore Hollandia in the Baiga Tribal Family

Excerpt

Hemoglobin Lepore (Hb Lepore) is an uncommon hemoglobinopathy with δβ hybrid chains produced by 7.4 kb deletion in the β-globin gene cluster. The fusion gene results in poor of synthesis of δβ hybrid chains resulting in heterozygous β-thalassemia phenotype with mild hypochromic microcytic anemia. Homozygosity for Hb Lepore or compound heterozygosity for β-thalassemia and Hb Lepore results in the phenotype of thalassemia major or thalassemia intermedia [1‐3]. Five variants of Hb Lepore have been identified, each characterized by different gene deletion breakpoints. Hb Lepore-Boston-Washington (Hb LBW), (HGVS: NG_000007.3: g.63632_71046del) is the most commonly reported variant, worldwide and in many ethnic groups from Mediterranean countries. Hb Lepore-Baltimore, (HGVS: NG_000007.3: g.63564_70978,) is reported from Southern Europe and Latin America [4‐6]. Hb Lepore Hollandia (HGVS: NG_000007.3: g.63290_70702del) is mainly found among individuals of Southern and Southeast Asian origin [7, 8]. Here we report the presence of Hb Lepore (δ22/β50) for the first time in a family belonging to the Baiga tribe from Dindori District, Madhya Pradesh, India. …