A mild type of Hb S-beta(+)-thalassemia [-92(C-->T)] in a Sicilian family.
Hematological data are presented for an adult Sicilian patient with a mild Hb S-beta(+)-thalassemia caused by a C-->T mutation at position -92 of the beta promoter. This mutation was identified by sequencing of amplified DNA and was confirmed by dot-blot analysis with specific probes. A comparison of levels of Hb S and Hb A in Hb S-beta-thalassemia patients with different beta-thalassemia alleles showed great variations; the highest level of Hb A (45%) was recorded in the patient with Hb S-beta(+)-thalassemia [-92(C-->T)] and the lowest (approximately 13%) in patients with Hb S-beta(+)-thalassemia [IVS-II-745 (C-->G)]. Clinical severity is directly related to the level of Hb A present.
Divoky
V
V
Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
Baysal
E
E
Schiliro
G
G
Dibenedetto
S P
SP
Huisman
T H
TH
D000328:Adult; D001483:Base Sequence; D002648:Child; D004247:DNA / Q000235:genetics; D005260:Female; D005784:Gene Amplification; D006441:Hemoglobin A / Q000032:analysis; D006451:Hemoglobin, Sickle / Q000032:analysis*; D006801:Humans; D008297:Male; D009154:Mutation; D017086:beta-Thalassemia / Q000097:blood / Q000235:genetics*
D006451:Hemoglobin, Sickle; D004247:DNA; D006441:Hemoglobin A