Edison Eunice S, Shaji Ramachandran V, Devi Sankari G, Kumar Satheesh S, Srivastava Alok, Chandy Mammen
Department of Haematology, Christian Medical College, Vellore, India.
Hemoglobin. 2005;29(1):19-25.
A T-->C mutation in the beta-globin gene at codon 110 that produces the hyper unstable variant Hb Showa-Yakushiji was identified in four unrelated individuals in India. It was found in a compound heterozygous state with other mutations producing beta-thalassemia (thal) or Hb E [beta26(B8)Glu-->Lys]. The mutation producing this abnormal hemoglobin (Hb) was found on the same haplotype in all these patients but differed from the Japanese haplotype, indicating its independent origin in India.
在印度的4名无亲缘关系的个体中，发现β-珠蛋白基因第110密码子处发生了T→C突变，该突变产生了极不稳定的变异体血红蛋白（Hb）昭和-八王子。发现其处于与其他导致β地中海贫血（β-地贫）或Hb E[β26（B8）谷氨酸→赖氨酸]的突变的复合杂合状态。在所有这些患者中，产生这种异常血红蛋白（Hb）的突变位于相同的单倍型上，但与日本单倍型不同，表明其在印度独立起源。
