Molecular characterization of ?-thalassemia intermedia in the West Bank, Palestine.

ABSTRACT: Background:We aimed to investigate the molecular basis of ?-Thalassemia intermedia (TI) in the West Bank region and its management practices. Methods:This was a case series multi-center study and included 51 cases of TI. DNA sequencing was used to analyze ?-globin gene mutations. Common ?-globin gene mutations were screened by Gap-PCR (-?3.7, -?4.2, --MED, ???anti3.7) or DNA sequencing (?2-IVS II 5?nt del). XmnI -158 C?>?T polymorphisms of G?-globin gene was determined by RFLP-PCR. Results:Seven ?-globin gene mutations were observed, namely IVS-I -6 C?>?T, IVS-I-110?G?>?A, IVS-II-1?G?>?A, IVS-I-1?G?>?A, Codon 37 Trp?>?Stop, beta -?101 and IVS-II-848 C?>?A. Ten genotypes were observed. Homozygosity for IVS-I-6 accounted for the majority of TI cases with a frequency of 74.5%. The second common ?-globin gene genotype was homozygote IVS-I-110?G?>?A (5.8%) and homozygote IVS-II-1?G?>?A (5.8%). The remaining seven genotypes were each detected in about 2% of patients. ?-Thalassemia mutations were seen in five patients (9.8%), and included (-?3.7, ???anti3.7 and ?2-IVSII-5 nt del). XmnI polymorphism was observed in four patients (7.8%), three homozygotes and one heterozygote. Conclusions:Homozygosity for the mild ?-globin gene IVS-I-6 allele was the major contributing factor for the TI phenotype among the study subjects. The role of XmnI SNP and ?-thalassemia mutations in ameliorating the TI phenotype was observed in few patients for each factor. The beta -?101 C?>?T mutation was diagnosed in one patient in homozygote state for the first time in Palestine.

SUBMITTER: Faraon R 

PROVIDER: S-EPMC6380065 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature