title: Two rare mutations in Turkey: IVS I.130(G-C) and IVS II.848(C-A).
abstract: Beta-thalassemia, an autosomal recessive disease, results from mutations of the beta-globin gene. More than 40 different mutations found in Turkish beta-thalassemia patients are mostly composed of point mutations, and only in very rare cases a deletion or an insertion causes beta-thalassemia phenotypes. Here, we report two patients who were clinically diagnosed with beta-thalassemia major and HbS/beta-thalassemia respectively. We performed reverse dot blot hybridization method and automated sequence analysis to detect the mutations. One of the patients was found to be IVS I.130 (G-C) homozygous, the other was HbS/IVS II.848 (C-A) as compound heterozygous. The aim of this study was to report hematological and clinical findings in both cases related with beta-globin gene defects that are very rare.
authors.affiliation: Department of Medical Biology and Genetics, School of Medicine, Akdeniz University, TR-07070 Antalya, Turkey.
authors.forename: N
authors.initials: N
authors.lastname: Nal
authors.forename: A E
authors.initials: AE
authors.lastname: Manguoglu
authors.forename: C F
authors.initials: CF
authors.lastname: Sargin
authors.forename: I
authors.initials: I
authors.lastname: Keser
authors.forename: A
authors.initials: A
authors.lastname: Kupesiz
authors.forename: A
authors.initials: A
authors.lastname: Yesilipek
authors.forename: G
authors.initials: G
authors.lastname: Luleci
mesh_terms: D002648:Child; D004247:DNA / Q000032:analysis / Q000302:isolation & purification; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation; D017422:Sequence Analysis, DNA / Q000379:methods*; D014421:Turkey / Q000453:epidemiology; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D006451:Hemoglobin, Sickle; D004247:DNA