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Hemoglobin
international journal for hemoglobin research
Volume 29, 2005 - Issue 1
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Original Article

Hb Showa-Yakushiji [β110(G12)Leu→Pro] in Four Unrelated Patients from West Bengal

Eunice S. Edison Department of Haematology, Christian Medical College, Vellore, 632 004, India
,
Ramachandran V. Shaji Department of Haematology, Christian Medical College, Vellore, 632 004, India
,
Sankari G. Devi Department of Haematology, Christian Medical College, Vellore, 632 004, India
,
Satheesh S. Kumar Department of Haematology, Christian Medical College, Vellore, 632 004, India
,
Alok Srivastava Department of Haematology, Christian Medical College, Vellore, 632 004, India
&
Mammen Chandy Department of Haematology, Christian Medical College, Vellore, 632 004, India; Department of Haematology, Christian Medical College, Vellore, 632 004, India
Pages 19-25 | Received 06 Sep 2004, Accepted 04 Nov 2004, Published online: 07 Jul 2009
 
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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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