Genotype-phenotype analysis in HbS-beta-thalassemia.
Genotypes and phenotypes were studied in 31 Turkish HbS-beta-thalassemia patients. In 19 patients the beta-thalassemia mutations were beta+ and in 12 the beta 0 phenotype. The IVSI-110 mutation was found in 45% of the patients. IVSI-1, beta 39, IVSII-1 and FSC8 are the genotypes associated with beta 0-thalassemia. Hematological data were evaluated at the time of diagnosis and 4 years after diagnosis. The mean HbF value was 13 +/- 7.8% at diagnosis and 9.7 +/- 7.8% 4 years later. A significant negative correlation was observed between the age of the patients and the HbF value (p < 0.05). No statistically significant differences were observed between the mean of hematological parameters in beta(+)- and beta 0-thalassemia patients except for the mean HbF value which were 10.7 +/- 6.9 and 15.9 +/- 7.7% in beta(+)- and beta 0-thalassemia, respectively (p < 0.05). The study indicated that beta-thalassemia mutations in trans to the HbS mutation do not exert any beneficial effect on the manifestation of the disease.
Altay
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C
School of Medicine, Department of Pediatrics, Hacettepe University, Ankara, Turkey.
Oner
C
C
Oner
R
R
Mesci
L
L
Balkan
H
H
Tüzmen
S
S
Başak
A N
AN
Gümrük
F
F
Gürgey
A
A
D000293:Adolescent; D000328:Adult; D000755:Anemia, Sickle Cell / Q000097:blood / Q000150:complications / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006451:Hemoglobin, Sickle / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D014421:Turkey; D017086:beta-Thalassemia / Q000097:blood / Q000150:complications / Q000235:genetics*
D006451:Hemoglobin, Sickle