title: Variation in clinical severity among patients with Hb Lepore-Boston-beta-thalassaemia is related to the type of beta-thalassaemia.
abstract: Clinical and haematological observations, made for 10 Yugoslavian patients with the Hb Lepore-beta-thalassaemia condition, suggested a considerable variation from severe disease and complete blood transfusion dependency to a moderate, compensated, anaemia without major complications and without a need for regular blood transfusions. As the type of Hb Lepore was the same in all patients (Lepore-Boston-Washington) and an alpha-globin gene deficiency was absent, it was concluded that the type of beta-thalassaemia determined the severity of the disease. Six patients with severe disease had one of the following three beta-thalassaemia determinants: IVS-1 position 110 G----A, exon 2 codon 39 C----T, and IVS-1 position 1 G----A, while the three patients with mild disease had the Portuguese type of thalassaemia which is caused by the T----C substitution at position 6 of the IVS-1. In one patient with severe disease the beta-thalassaemia determinant remained unknown. Our observations are consistent with those made for thalassaemia patients with a homozygosity for these determinants.
authors: Department of Cell and Molecular Biology, Medical College of Georgia, Augusta 30912-3331.
authors: D G
authors: DG
authors: Efremov
authors: G D
authors: GD
authors: Efremov
authors: N
authors: N
authors: Zisovski
authors: N
authors: N
authors: Stojanovski
authors: F
authors: F
authors: Kutlar
authors: J C
authors: JC
authors: Diaz-Chico
authors: A
authors: A
authors: Kutlar
authors: K G
authors: KG
authors: Yang
authors: T A
authors: TA
authors: Stoming
authors: T H
authors: TH
authors: Huisman
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000032:analysis; D005260:Female; D006239:Haplotypes; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009693:Nucleic Acid Hybridization; D013789:Thalassemia / Q000235:genetics / Q000473:pathology*
chemical_list: D006455:Hemoglobins, Abnormal; C039800:hemoglobin Lepore Boston-Washington; D004247:DNA