Genotype-phenotype analysis in HbS-beta-thalassemia.

doi:10.1159/000154404

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Article

Genotype-phenotype analysis in HbS-beta-thalassemia.

Human heredity - 1 Jan 2000

Altay C, Oner C, Oner R, Mesci L, Balkan H, Tüzmen S, Başak A N, Gümrük F, Gürgey A

Abstract excerpt

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...

Topics

Adolescent
Adult
Anemia, Sickle Cell
Child
Child, Preschool
Female
Genotype
Hemoglobin, Sickle
Humans
Infant
Male
Mutation

Phenotype

Turkey

beta-Thalassemia

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