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
Abstract
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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