Level of fetal hemoglobin in children with sickle cell anemia: influence of gender, haplotype and alpha-thalassemia-2 trait

Acta Haematol. 1993;90(1):34-8. doi: 10.1159/000204370.

Abstract

We have evaluated hematological data for numerous blood samples collected from 51 sickle cell anemia (SS) patients during their first 10 years of life. Haplotypes and alpha-globin gene status were determined in all patients. A total of 482 hematological evaluations and 317 fetal hemoglobin (Hb F) determinations are presented. The data show that the Hb F levels are the highest in patients with haplotypes 3/3 and the lowest in those with haplotypes 20/20. This is reflected in differences in total hemoglobin, PCV value, and RBC counts, which are the lowest in the 20/20 group and the highest in the 3/3 group. Female SS patients with haplotypes 19/19 have higher Hb F levels than their male counterparts; the same was observed for the patients with the 19/3 haplotype combination but not for those with the 20/3 haplotype combination. A concomitant alpha-thalassemia-2 heterozygosity had little or no effect on the hemoglobin level. The data confirm that SS children, aged 1-10 years, with a homozygosity for haplotype No. 20 are most severely affected by their disease.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Anemia, Sickle Cell / blood*
  • Anemia, Sickle Cell / genetics
  • Child
  • Child, Preschool
  • Female
  • Fetal Hemoglobin / analysis*
  • Globins / genetics
  • Haplotypes*
  • Heterozygote
  • Homozygote
  • Humans
  • Infant
  • Male
  • Sex Characteristics*
  • alpha-Thalassemia / blood*
  • alpha-Thalassemia / genetics

Substances

  • Globins
  • Fetal Hemoglobin