Association of heterocellular HPFH, beta(+)-thalassaemia, and delta beta(0)-thalassaemia: haematological and molecular aspects.
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.
D000328:Adult; D002648:Child; D002874:Chromosome Mapping; D004262:DNA Restriction Enzymes; D015246:Deoxyribonuclease EcoRI; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics*; D005796:Genes; D005819:Genetic Markers; D005914:Globins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
D005819:Genetic Markers; D005914:Globins; D005319:Fetal Hemoglobin; D004262:DNA Restriction Enzymes; D015246:Deoxyribonuclease EcoRI