The Frequency of 14 β-Thalassemia Mutations in the Arab Populations

Abstract

The β-thalassemias are a heterogeneous group with respect to molecular pathogenesis, and different populations and ethnic groups differ with respect to the predominating mutations. This variable spectrum of β-thalassemia mutations has resulted in extensive studies in each population and ethnic group to identify the major mutations. In this study we investigated the prevalence of 14 mutations in 253 β-thalassemia patients drawn from eight Arab countries (i.e. Jordan, Egypt, Syria, Lebanon, Yemen, and Saudi Arabia), living in Saudi Arabia and attending Ministry of Health hospitals. The mutations investigated included IVS-l-110 (G→A), IVS-ll-1 (G→A), IVS-l-5 (G→C), codon 39 (C→T), IVS-l-1 (G→A), frameshift at codons 8/9 (+G), frameshift at codons 41/42 (-TTCT), codon 15 (TGG→TAG), IVS-l-6 (T→C), frameshift at codon 16 (-C), IVS-ll-745 (C→G), codon 6 (-A), IVS-I, 3′ end (-25 bp), and Cap +1 (A→C). The most frequently encountered mutations were IVS-l-110 and IVS-ll-1 which were identified in the population of each Arab country. The IVS-l-1 and IVS-ll-745 mutations were encountered in Jordanians, Egyptians, and Syrians. The IVS-l-5, codon 39, codon 6, IVS-I, 3′ end (-25 bp), and Cap +1 mutations were encountered only in Saudis and not in other Arabs, except codon 39 which was present in the Syrians and Lebanese. Other mutations were generally rare and not specific to any Arab ethnic group. This paper presents preliminary data on the prevalence of 14 mutations in the Arab populations and shows wide variation in the molecular basis of β-thalassemia in different Arab ethnic groups. Further detailed studies to identify the entire spectrum of β-thalassemia mutations are stressed.