title: Level of fetal hemoglobin in children with sickle cell anemia: influence of gender, haplotype and alpha-thalassemia-2 trait.
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.
authors.affiliation: Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
authors.forename: A D
authors.initials: AD
authors.lastname: Adekile
authors.forename: T H
authors.initials: TH
authors.lastname: Huisman
mesh_terms: D000755:Anemia, Sickle Cell / Q000097:blood* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis*; D005914:Globins / Q000235:genetics; D006239:Haplotypes; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D012727:Sex Characteristics; D017085:alpha-Thalassemia / Q000097:blood* / Q000235:genetics
chemical_list: D005914:Globins; D005319:Fetal Hemoglobin