Hereditary persistence of fetal haemoglobin (HPFH) in conjunction with a chromosomal translocation involving the haemoglobin β locus
- 1 January 1984
- journal article
- research article
- Published by Wiley in British Journal of Haematology
- Vol. 56 (1) , 87-94
- https://doi.org/10.1111/j.1365-2141.1984.tb01274.x
Abstract
An HPFH [hereditary persistence of fetal Hb] syndrome was found in a woman and her daughter who carry a balanced cyclic translocation of chromosome segments involving 4 chromosomes, with 1 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 gene cluster shows no detectable deletion in the entire .gamma.-.delta.-.beta.-globin gene region.This publication has 20 references indexed in Scilit:
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