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A novel 105 basepair deletion causing β 0 ‐thalassemia in members of a Thai family
Author(s) -
Nopparatana Chamg,
Saechan Vannarat,
Nopparatana Chawadee,
Pornpatkul Malida,
Panich Vicharn,
Fukumaki Yasuyuki
Publication year - 1999
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/(sici)1096-8652(199905)61:1<1::aid-ajh1>3.0.co;2-j
Subject(s) - thalassemia , medicine , family medicine , genetics , biology
We identified and characterized a novel β 0 ‐thalassemia mutation due to partial deletion of the 5′ end β‐globin gene including the mRNA cap site and a part of exon 1. The deletion was precisely 105 basepair (bp) in length extending from position −24 or −25 to +80 or +81 relative to the β‐globin gene mRNA cap site. This mutation was detected in three individuals from a family originating in the area of southern Thailand. The propositus was a 39‐year‐old female and noted to be heterozygous for β‐thalassemia with 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 the 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 β‐globin gene promoter sequences, the individuals heterozygous for this mutation have an elevated HbA 2 level slightly higher than observed in most carriers of β‐thalassemia caused by point mutations. Am. J. Hematol. 61:1–4, 1999. © 1999 Wiley‐Liss, Inc.