title: A significant beta-thalassemia heterogeneity in the United Arab Emirates.
abstract: The Dubai Thalassemia Center has identified 35 different beta-thalassemia mutations in 570 chromosomes from the United Arab Emirates population using gene amplification, hybridization with specific labeled oligonucleotide probes, sequencing of amplified DNA, restriction enzymes, and amplification refractory mutation system techniques. This large number of mutations which represent 21% of the total beta-mutations discovered worldwide reflects the heterogenous nature of the population living in the United Arab Emirates (1). We found that 50% of our beta-thalassemia patients have a concomitant alpha-thalassemia; namely the -alpha 3.7 kb deletion. Co-inheritance of alpha-thalassemia especially in the form of two alpha-globin gene deletions have an ameliorating effect on the phenotype presentation of our beta-thalassemia. Nine patients (one homozygote and eight compound heterozygotes) were identified with Hb Monroe (IVS-I,-1 (G-->C)), a thalassemic hemoglobin characterized by an Arg-->Thr substitution in codon 30 of the beta-globin gene. In addition, one of the patients was a compound heterozygote for Hb Tacoma [IVS-I, +1 (G-->C)]; a point mutation affecting the third nucleotide of codon 30 (G-->C) causing an Arg-->Ser replacement.
authors.affiliation: Department of Pediatrics and Genetics, United Arab Emirates.
authors.forename: S
authors.initials: S
authors.lastname: el-Kalla
authors.forename: A R
authors.initials: AR
authors.lastname: Mathews
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002877:Chromosomes, Human; D016384:Consensus Sequence; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D005799:Genes, Dominant; D018740:Genetic Heterogeneity; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007438:Introns; D008297:Male; D009154:Mutation; D017354:Point Mutation; D011061:Poly A / Q000235:genetics; D011401:Promoter Regions, Genetic; D012326:RNA Splicing; D017384:Sequence Deletion; D014158:Transcription, Genetic; D014479:United Arab Emirates; D017086:beta-Thalassemia / Q000097:blood / Q000235:genetics*
chemical_list: D011061:Poly A