Clinical, hematological, and molecular features in Sicilians with Hb S-beta-thalassemia.
The clinical, hematological, and molecular features of 81 patients with Hb S-beta-thalassemia and relatives from 76 unrelated families are reported. We analyzed the beta-thalassemia mutations and the beta S haplotypes in all patients and detected 6 different beta-thalassemia alleles: codon 39 (C-->T) (39 cases), IVS-I-1 (G-->A) (12 cases), IVS-II-1 (G-->A) (4 cases), IVS-I-6 (T-->C) (6 cases), IVS-I-110 (G-->A) (14 cases), and IVS-II-745 (G-->C) (6 cases). Eighty patients had haplotype #19 or the Benin type and one had haplotype #17 or the Cameroon type. The type of beta-thalassemia allele had the greatest influence on the phenotypic expression; this was observed for patients with Hb S-beta-thalassemia and for simple beta-thalassemia heterozygotes. The mild IVS-I-6 (T-->C) mutation produced borderline abnormal erythrocytic indices and Hb A2 levels in heterozygotes. Overall, there was a milder expression in beta(S) beta(+) patients (only 7.7% presented severe disease) than in those with the beta(S)beta(0) condition (22.6% had the severe form of the disease).
Schiliro
G
G
Department of Pediatric Hematology, University of Catania, Sicily, Italy.
Samperi
P
P
Testa
R
R
Gupta
R B
RB
Gu
L H
LH
Huisman
T H
TH
D000483:Alleles; D005006:Ethnicity; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis; D006239:Haplotypes; D006441:Hemoglobin A / Q000032:analysis; D006451:Hemoglobin, Sickle / Q000032:analysis*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D012802:Sicily; D017086:beta-Thalassemia / Q000097:blood* / Q000235:genetics / Q000503:physiopathology
D006451:Hemoglobin, Sickle; D006441:Hemoglobin A; D005319:Fetal Hemoglobin