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

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.

• Hemoglobin (Hb) variant
• β chain variant
• Oxygen affinity