Hb Showa-Yakushiji [β110(G12)Leu→Pro] in four unrelated patients from West Bengal

Edison, Eunice S. ; Shaji, Ramachandran V. ; Devi, Sankari G. ; Kumar, Satheesh S. ; Srivastava, Alok ; Chandy, Mammen (2005) Hb Showa-Yakushiji [β110(G12)Leu→Pro] in four unrelated patients from West Bengal Hemoglobin, 29 (1). pp. 19-25. ISSN 0363-0269

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Official URL: http://www.informahealthcare.com/doi/abs/10.1081/H...

Related URL: http://dx.doi.org/10.1081/HEM-47613


A T→C mutation in the -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.

Item Type:Article
Source:Copyright of this article belongs to Informa Healthcare.
Keywords:Hb Showa-yakushiji; Hb E; β-thalassemia (thal); India
ID Code:5914
Deposited On:19 Oct 2010 10:13
Last Modified:29 Jan 2011 04:51

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