Literature DB >> 7129931

Hb A2-Canada or alpha 2 delta 2 99(G1) Asp replaced by Asn, a newly discovered delta chain variant with increased oxygen affinity occurring in cis to beta-thalassemia.

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.

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Year:  1982        PMID: 7129931     DOI: 10.3109/03630268208991698

Source DB:  PubMed          Journal:  Hemoglobin        ISSN: 0363-0269            Impact factor:   0.849


  1 in total

1.  Filipino beta zero thalassaemia: a high Hb A2 beta zero thalassaemia resulting from a large deletion of the 5' beta globin gene region.

Authors:  P I Motum; A Kearney; T J Hamilton; R J Trent
Journal:  J Med Genet       Date:  1993-03       Impact factor: 6.318

  1 in total

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