A novel 105 basepair deletion causing beta(0)-thalassemia in members of a Thai family

We identified and characterized a novel beta(0)-thalassemia mutation due to partial deletion of the 5' end beta-globin gene including the mRNA cap sit e and a part of exon 1. The deletion was precisely 105 basepair (bp) in len gth extending from position -24 or -25 to +80 or +81 relative to the beta-g lobin gene mRNA cap site. This mutation was detected in three individuals f rom a family originating in the area of southern Thailand. The propositus w as a 39-year-old female and noted to be heterozygous for beta-thalassemia w ith hemoglobin (Hb) level of 10.1 g/dl, MCV 70 fl, MCH 23.1 pg, HbA(2), 6.3 %, and HbF 2.4%, Her son was 9 years of age and was also heterozygous for t he mutation, having Hb level of 10.8 g/dl, MCV 58 fl, MCH 19.0 pg, HbA(2), 5.6%, and HbF 4.3%. Her 6-year-old daughter was affected, having a genotype of this mutation and a G-C transition at IVS 1 nt 5, Although the deletion does not include the beta-globin gene promoter sequences, the individuals heterozygous for this mutation have an elevated HbA(2), level slightly high er than observed in most carriers of beta-thalassemia caused by point mutat ions. (C) 1999 Wiley-Liss, Inc.