title: The beta+-IVS-I-6 (T-->C) mutation accounts for half of the thalassemia chromosomes in the Palestinian populations of the mountain regions.
abstract: A study of the spectrum of beta-thalassemia mutations in the southern part of the West Bank of the Palestinian Authority revealed the presence of 10 different beta-globin mutations. The study included 41 patients and 54 carriers of beta-thalassemia and sickle cell anemia. The spectrum of mutations observed was typically Mediterranean. However, their relative frequencies was unique. The predominant allele was IVS-I-6 (T-->C), with an exceptionally high frequency of 48.5% for this mutation. The homozygous IVS-I-6 patients had widely variable clinical presentations, from typical transfusion-dependent thalassemia major to non-transfusion-dependent thalassemia intermedia phenotype. Since it is so widespread in these West Bank populations, the IVS-I-6 mutation may date back to ancient times. The nonsense mutation at codon 37 (G-->A) was found at a relatively high frequency of 11.3%, supporting the hypothesis that it originated in this region. The other mutations, at decreasing frequencies ranging from 9.5-1.5%, were: IVS-I-110 (G-->A), frameshift codon 5 (- CT), IVS-I-1 (G-->A), IVS-II-1 (G-->A), Hb S [beta6(A3)Glu-->Val], frameshift codons 8/9 (+G), codon 39 (C-->T), and -30 (T-->A). Our findings will improve health care for the Palestinian population, and also has implications for the study of the origin and spread of thalassemia in the Middle East.
authors.affiliation: Department of Life Sciences, Bethlehem University, Palestine.
authors.forename: Mahmoud Abd
authors.initials: MA
authors.lastname: El-Latif
authors.forename: Dvora
authors.initials: D
authors.lastname: Filon
authors.forename: Deborah
authors.initials: D
authors.lastname: Rund
authors.forename: Ariella
authors.initials: A
authors.lastname: Oppenheim
authors.forename: Moien
authors.initials: M
authors.lastname: Kanaan
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D018912:Arabs / Q000235:genetics* / Q000266:history; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D003062:Codon / Q000235:genetics; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005260:Female; D018703:Founder Effect; D016368:Frameshift Mutation; D005787:Gene Frequency; D005808:Genes, Recessive; D005914:Globins / Q000235:genetics*; D049690:History, Ancient; D006801:Humans; D015994:Incidence; D008297:Male; D019083:Mediterranean Region / Q000453:epidemiology; D008877:Middle East / Q000453:epidemiology; D009154:Mutation; D017354:Point Mutation; D011247:Pregnancy; D022821:RNA Splice Sites / Q000235:genetics*; D017086:beta-Thalassemia / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics* / Q000266:history
chemical_list: D003062:Codon; D018389:Codon, Nonsense; D022821:RNA Splice Sites; D005914:Globins