| Literature DB >> 745216 |
S Musumeci, G Schilirò, G Pizzarelli, A Fischer, G Russo.
Abstract
A Sicilian family is described in which the alpha-thalassaemia gene is interacting in several members with beta-thalassaemia resulting in a balanced alpha/beta chain production ratio. In one patient, affected by homozygous beta-thalassaemia, the presence of alpha-thalassaemia resulted in a less severe clinical expression of the disease, less marked imbalance in the alpha/non-alpha ratio, and a lower level of HbF. Further studies of haemoglobin synthesis are needed to clarify the complex genetic picture that results from the interaction of different forms of thalassaemia.Entities:
Mesh:
Substances:
Year: 1978 PMID: 745216 PMCID: PMC1013760 DOI: 10.1136/jmg.15.6.448
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318