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.
Hb Belfast [β15(A12)Trp→Arg]: Definition of the clinical and hematological phenotype
SATTA, STEFANIA;FAIS, ANTONELLA;ERA, BENEDETTA;
2004-01-01
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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