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, unev...

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Bibliographic Details
Published inBritish journal of haematology Vol. 56; no. 1; p. 87
Main Authors Jensen, M, Wirtz, A, Walther, J U, Schemken, E M, Laryea, M D, Driesel, A J
Format Journal Article
LanguageEnglish
Published England 01.01.1984
Subjects
Adult
Child
Chromosome Aberrations - genetics
Chromosome Disorders
Chromosome Mapping
Chromosomes, Human, 19-20 - ultrastructure
Chromosomes, Human, 6-12 and X - ultrastructure
Female
Fetal Hemoglobin - genetics
Globins - analysis
Globins - genetics
Hemoglobinopathies - genetics
Humans
Karyotyping
Syndrome
Translocation, Genetic
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Summary: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.
ISSN:0007-1048
DOI:10.1111/j.1365-2141.1984.tb01274.x