title: Concomitant inheritance of homozygous alpha-thalassemia-2 with homozygous IVS-I-5 G-C beta gene mutation does not influence the severity of the thalassemic phenotype.
abstract: An Asian Indian child presented the severe transfusion dependent form of beta-thalassemia major. Sequencing data and gene mapping analysis revealed the concomitant presence of homozygous alpha-thal-2 type 3.7 kb deletion with homozygous beta+ thal IVS-1-5 G-C mutation. Further studies at the DNA level demonstrated that he was XmnI negative at the -158 G gamma site and had the haplotype + ----- +. These results indicate that in the absence of high HbF determinants, concomitant inheritance of homozygous alpha-thal-2 with homozygous severe beta+ thal does not influence the severity of the thalassemic phenotype.
authors.affiliation: Département de Médecine, Hôpital Cantonal Universitaire de Genève, Switzerland.
authors.forename: P H
authors.initials: PH
authors.lastname: Beris
authors.forename: R
authors.initials: R
authors.lastname: Darbellay
authors.forename: D
authors.initials: D
authors.lastname: Beck
authors.forename: R
authors.initials: R
authors.lastname: Oner
mesh_terms: D001483:Base Sequence; D016384:Consensus Sequence; D004252:DNA Mutational Analysis; D005319:Fetal Hemoglobin / Q000096:biosynthesis; D005914:Globins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012326:RNA Splicing; D013789:Thalassemia / Q000097:blood / Q000145:classification / Q000235:genetics* / Q000473:pathology
chemical_list: D005914:Globins; D005319:Fetal Hemoglobin