Association of heterocellular HPFH, β+-thalassaemia, and δβ° -thallassaemia: Haematological and molecular aspects

An Italian family in which heterocellular hereditary persistence of fetal haemoglobin (HPFH) interacts with both β+- and δβ-thalassaemia is described. The index case was an 8 year old girl who was presumed to inherit both heterocellular HPFH and β+-thalassaemia from her mother and δβ-thalassaemia from her father. She was healthy and never needed blood transfusions. The possible contribution of heterocellular HPFH to the less severe expression of the compound δβ/β+-thalassaemia heterozygosity is discussed. By DNA analysis the specific δβ-thalassaemia defect on the γδβ globin gene region has been established. In addition, a previously unreported association of a polymorphic restriction site haplotype with a β+-thalassaemia mutation has been observed