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.
Association of heterocellular HPFH, β+-thalassaemia, and δβ° -thallassaemia: Haematological and molecular aspects / Cianetti, L.; Care, A.; Sposi, N. M.; Giampaolo, A.; Calandrini, M.; Petrini, M.; Massa, A.; Marinucci, M.; Mavilio, F.; Ceccanti, M.. - In: JOURNAL OF MEDICAL GENETICS. - ISSN 0022-2593. - 21:4(1984), pp. 263-267.
Association of heterocellular HPFH, β+-thalassaemia, and δβ° -thallassaemia: Haematological and molecular aspects
Mavilio F.;
1984
Abstract
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.
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