Article
HbH disease in Sardinia: molecular, hematological and clinical aspects.
Acta haematologica - 1 Jan 1992
Galanello R, Aru B, Dessì C, Addis M, Paglietti E, Melis M A, Cocco S, Massa P, Giagu N, Barella S
Abstract excerpt
In this study we have defined the molecular basis and correlated the clinical phenotype with the alpha-globin genotype in a large series of patients of Sardinian descent with HbH disease. The most prevalent molecular defect was the deletion of 3 alpha-globin structural genes most commonly the (--/-alpha 3.7) genotype (83.6%) and rarely the (--/-alpha 4.2) genotype (1.4%), followed in decreasing order of incidence...
Topics
- Adult
- Child
- Chromosome Mapping
- Gene Deletion
- Genes
- Genotype
- Globins
- Hemoglobin H
- Hemoglobinopathies
- Homozygote
- Humans
- Italy