title: Beta-globin gene haplotype in Hb SC disease.
abstract: We asked the question, is the haplotype found with the sickle hemoglobin gene associated with different hematological characteristics in patients who were combined heterozygotes for sickle hemoglobin and hemoglobin C (Hb SC disease)? In 73 adults with Hb SC disease, a Benin haplotype chromosome was present in 56%, and Bantu (or Central African Republic; CAR), Senegal, and atypical haplotype chromosomes were found in 25%, 6%, and 12%, respectively. No significant difference were found in hematological characteristics or fetal hemoglobin levels of patients with Benin/C, CAR/C, Senegal/C, and atypical/C haplotypes. There were 71% C I, 18% C II, and 11% other beta(c) haplotypes. Fetal hemoglobin levels are lower in Hb SC disease than in sickle-cell anemia. Perhaps because haplotype has no discernible effect on fetal hemoglobin level in Hb SC disease, it does not modulate its hematological features.
authors: VA Medical Center, Jackson, MS 39216, USA.
authors: M H
authors: MH
authors: Steinberg
authors: R L
authors: RL
authors: Nagel
authors: C
authors: C
authors: Lawrence
authors: V
authors: V
authors: Swaminathan
authors: Z H
authors: ZH
authors: Lu
authors: M
authors: M
authors: Plonczynski
authors: A
authors: A
authors: Harrell
mesh_terms: D000328:Adult; D001609:Beta-Globulins / Q000235:genetics*; D002869:Chromosome Aberrations; D005319:Fetal Hemoglobin / Q000032:analysis; D005796:Genes; D006239:Haplotypes; D006450:Hemoglobin SC Disease / Q000235:genetics*; D006801:Humans
chemical_list: D001609:Beta-Globulins; D005319:Fetal Hemoglobin