One haplotype is associated with the Swiss type of hereditary persistence of fetal hemoglobin in the Yugoslavian population

G. D. Efremov, I. Gjorgovski, N. Stojanovski, J. C. Diaz-Chico, T. Harano, Ferdane Kutlar, T. H.J. Huisman

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27 Scopus citations

Abstract

Blood samples from normal adults and from members of seven families with the Swiss type of hereditary persistence of fetal hemoglobin (HPFH) from Yugoslavia were analyzed for their fetal hemoglobin (Hb F) and Gγ levels, while haplotyping defined the chromosomes at eight or nine polymorphic restriction sites. The data indicate that Swiss-HPFH, characterized by slightly elevated Hb F and Gγ levels and no recognizable hematological abnormality, is associated with a chromosome whose restriction enzyme haplotype is identical to the no. 3 (Senegal) haplotype found in black sickle cell (SS) patients. Many adults with this chromosome have high Gγ but normal Hb F levels. It is suggested that the Swiss-HPFH phenotype results from the action of more than one factor; one is linked to the β-globin gene cluster and causes high Gγ values, while others result in an increased Hb F production and are perhaps of different origins.

Original languageEnglish (US)
Pages (from-to)132-136
Number of pages5
JournalHuman Genetics
Volume77
Issue number2
DOIs
StatePublished - Jan 1 1987

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Efremov, G. D., Gjorgovski, I., Stojanovski, N., Diaz-Chico, J. C., Harano, T., Kutlar, F., & Huisman, T. H. J. (1987). One haplotype is associated with the Swiss type of hereditary persistence of fetal hemoglobin in the Yugoslavian population. Human Genetics, 77(2), 132-136. https://doi.org/10.1007/BF00272379