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Hemoglobin
international journal for hemoglobin research
Volume 28, 2004 - Issue 3
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Short Communication

Hb Belfast [β15(A12)Trp→Arg]: Definition of the Clinical and Hematological Phenotype

, , , , , & show all
Pages 217-222 | Received 23 May 2003, Accepted 31 Mar 2004, Published online: 24 Aug 2009
 

Abstract

We report the sixth occurrence of Hb Belfast [β15(A12)Trp→Arg], a mild, unstable β chain variant, in a large family wherein nine subjects were affected. DNA analysis showed a TGG→AGG mutation at codon 15 of the β‐globin gene, confirming a Trp→Arg amino acid substitution. The oxygen affinity of the isolated variant was increased. The clinical phenotype is silent or very mild, the only clinical finding being an intermittent moderate jaundice.

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