6533b86ffe1ef96bd12ce6ec
RESEARCH PRODUCT
αααanti-4.2 Haplotype and heterozygous β° thalassemia in a Sicilian family
B. SaittaAurelio MaggioR. Di MarzoS. AcutoP. Lo GiocoR. GambinoC. CostaG. ButticèA. PirroneAntonino Giambonasubject
Geneticscongenital hereditary and neonatal diseases and abnormalitiesThalassemiaHaplotypeBiologymedicine.diseaseHuman geneticslanguage.human_languageHemoglobinopathyhemic and lymphatic diseasesGene duplicationGeneticslanguagemedicineGlobinGeneSicilianGenetics (clinical)description
The presence of the αααanti-4.2 haplotype and heterozygous β° thalassemia in a Sicilian family is described. These findings confirm the presence in Italy of a leftward deletion (−α4.2) and indicate that this may not be rare. Furthermore, although the β thalassemia determinant in this family has a severe expression, the interaction with the triplicated α gene does not necessarily express itself as thalassemia intermedia.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1985-08-01 | Human Genetics |