Hereditary persistence of fetal haemoglobin (HPFH) in conjunction with a chromosomal translocation involving the haemoglobin beta locus.
An HPFH syndrome was found in a woman and her daughter who also carry a 'balanced' cyclic translocation of chromosome segments involving four chromosomes, with one break point located in the region of the Hb beta locus. This HPFH is characterized by 5% and 8% Hb F in peripheral blood, uneven distribution of Hb F in the red cells, and a G gamma/G gamma + A gamma ratio of 0.4. The mapping of the non alpha gene cluster shows no detectable deletion in the entire gamma-delta-beta-globin gene region.
D000328:Adult; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002903:Chromosomes, Human, 19-20 / Q000648:ultrastructure*; D002906:Chromosomes, Human, 6-12 and X / Q000648:ultrastructure*; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics*; D005914:Globins / Q000032:analysis / Q000235:genetics; D006453:Hemoglobinopathies / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D013577:Syndrome; D014178:Translocation, Genetic
D005914:Globins; D005319:Fetal Hemoglobin