Association of heterocellular HPFH, beta(+)-thalassaemia, and delta beta(0)-thalassaemia: haematological and molecular aspects. Issue 4 (August 1984)

• Record Type: Journal Article
• Authors: Cianetti, L; Care, A; Sposi, N M; Giampaolo, A; Calandrini, M; Petrini, M; Massa, A; Marinucci, M; Mavilio, F; Ceccanti, M
• Is Part Of: Journal of medical genetics. Volume 21:Issue 4(1984)
• Page Start: 263
• Page End: 267
• Publication Date: 1984-08
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.21.4.263
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : An Italian family in which heterocellular hereditary persistence of fetal haemoglobin (HPFH) interacts with both beta(+)- and delta beta-thalassaemia is described. The index case was an 8 year old girl who was presumed to inherit both heterocellular HPFH and beta (+)-thalassaemia from her mother and delta beta-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 delta beta/beta(+)-thalassaemia heterozygosity is discussed. By DNA analysis the specific delta beta-thalassaemia defect on the gamma delta beta globin gene region has been established. In addition, a previously unreported association of a polymorphic restriction site haplotype with a beta (+)-thalassaemia mutation has been observed.