Abstract
A T→C mutation in the β-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 β-thalassemia (thal) or Hb E [β26(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.
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