Thalassaemia of intermediate severity resulting from the interaction between alpha- and beta-thalassaemia.
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.
D002648:Child; D004912:Erythrocytes / Q000473:pathology; D005319:Fetal Hemoglobin; D005796:Genes; D006443:Hemoglobin A2; D006801:Humans; D008297:Male; D009996:Osmotic Fragility; D010375:Pedigree; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
D006443:Hemoglobin A2; D005319:Fetal Hemoglobin