| Literature DB >> 7129931 |
M L Salkie, P A Gordon, W M Rigal, H Lam, J B Wilson, M E Headlee, T H Huisman.
Abstract
An Indian family is described in which the father has a delta chain abnormal hemoglobin which is the result of a mutation of the delta gene in cis to a beta-thalassemia heterozygosity. The abnormality concerns a substitution of the Asp residue in position 99 (G1) by an Asn residue. A similar substitution has been found in the beta chain of Hb Kempsey (alpha 2 beta 2 99 Asp replaced by Asn). The observed abnormality results in a greatly increased oxygen affinity of this newly discovered Hb A2 variant.Entities:
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Year: 1982 PMID: 7129931 DOI: 10.3109/03630268208991698
Source DB: PubMed Journal: Hemoglobin ISSN: 0363-0269 Impact factor: 0.849