Variation in clinical severity among patients with Hb Lepore-Boston-beta-thalassaemia is related to the type of beta-thalassaemia.
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.
Efremov
D G
DG
Department of Cell and Molecular Biology, Medical College of Georgia, Augusta 30912-3331.
Efremov
G D
GD
Zisovski
N
N
Stojanovski
N
N
Kutlar
F
F
Diaz-Chico
J C
JC
Kutlar
A
A
Yang
K G
KG
Stoming
T A
TA
Huisman
T H
TH
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*
D006455:Hemoglobins, Abnormal; C039800:hemoglobin Lepore Boston-Washington; D004247:DNA