The relative importance of the X-linked FCP locus and β-globin haplotypes in determining haemoglobin F levels: A study of SS patients homozygous for β(S) haplotypes

Yen Pei C. Chang, Michelink Maier-Redelsperger, Kirby D. Smith, Licinio Contu, Rolande Ducrocq, Mariane De Montalembert, Marie Belloy, Jacques Elion, George J. Dover, Robert Girot

Research output: Contribution to journalArticlepeer-review

Abstract

Five factors have been hypothesized to influence the 20-fold variation in fetal haemoglobin (Hb F) levels in sickle cell anaemia (SS): age sex, α-globin gene number, β-globin haplotype, and the X-linked F-cell production locus (FCP) that regulates the production of Hb F containing erythrocytes (F cells). We analysed the association of these factors with Hb F levels in 112 SS patients living in France who are homozygous for the three common African β-globin haplotypes (Benin, Bantu or Central African Republic and Senegal). We found that: (1) FCP accounts for about 40% of the overall variation in Hb F levels, (2) when the FCP influence is removed, β-globin haplotype is associated with 14% of the remaining Hb F variation, and (3) the other factors have little influence. Comparison with our previous study of SS individuals in Jamaica leads to the following conclusions: (1) the X-linked FCP locus is a major determinant of Hb F levels in SS disease, (2) factors linked to the β-globin haplotype have only a small effect on the variation in Hb F levels, in either the homozygous or heterozygous state, and (3) approximately half of the variation in Hb F levels still remains to be explained.

Original languageEnglish (US)
Pages (from-to)806-814
Number of pages9
JournalBritish journal of haematology
Volume96
Issue number4
DOIs
StatePublished - 1997

Keywords

  • X-linked FCP locus
  • fetal haemoglobin
  • multiple regression analysis
  • β-globin haplotypes

ASJC Scopus subject areas

  • Hematology

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