title: Two novel mutations in the 3' untranslated region of the beta-globin gene that are associated with the mild phenotype of beta thalassemia.
abstract: BACKGROUND
  There are approximately 800 different genomic alterations of the β-globin gene described in the human hemoglobin variant (HbVar) database. In this study, we have identified two novel putative mutations (HBB:c.*+108 A>G and HBB:c.*+132 C>T) in the 3' untranslated region (3'-UTR) of the β-globin gene and describe their clinical implications.
  
  
  METHODS
  Four patients from two unrelated families, all with hematological and clinical features associated with beta-thalassemia (β-thal), and their family members were included. The molecular diagnoses of the β-globin gene mutations were performed by direct sequencing.
  
  
  RESULTS
  A novel mutation, HBB:c.*+108 A>G, was found in combination with the IVS-I-110 G>A (HBB:c.93-21 G>A) mutation in three siblings (two brothers and one sister) from one of the families involved in our study. Their mother was found to be a carrier for HBB:c.*+108 A>G with normal HbA₂ levels. The other novel mutation, HBB:c.*+132 C>T, was found in combination with IVS-I-1 G>A (HBB:c.92 + 1G>A) in a 7-year-old boy diagnosed as β-thal intermedia from the second family. His father and two brothers were all carriers of HBB:c.*+132 C>T with borderline HbA₂ levels.
  
  
  CONCLUSIONS
  Based on the observed β-thal intermedia phenotypes and the accompanying mutations, we conclude that these novel β-globin gene 3' UTR mutations are associated with the mild phenotype of β-thal.
authors.affiliation: Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey. tbilgen@akdeniz.edu.tr
authors.forename: T
authors.initials: T
authors.lastname: Bilgen
authors.forename: O A
authors.initials: OA
authors.lastname: Clark
authors.forename: Z
authors.initials: Z
authors.lastname: Ozturk
authors.forename: M
authors.initials: M
authors.lastname: Akif Yesilipek
authors.forename: I
authors.initials: I
authors.lastname: Keser
mesh_terms: D020413:3' Untranslated Regions; D000293:Adolescent; D000328:Adult; D002648:Child; D005192:Family Health; D005260:Female; D006579:Heterozygote; D006801:Humans; D007438:Introns; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012720:Severity of Illness Index; D014421:Turkey; D055815:Young Adult; D055544:beta-Globins / Q000235:genetics* / Q000378:metabolism; D017086:beta-Thalassemia / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology
chemical_list: D020413:3' Untranslated Regions; D055544:beta-Globins