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Effect of β‐Globin gene cluster haplotype on the hematological and clinical features of sickle cell anemia
Author(s) -
Rieder R. F.,
Safaya S.,
Gillette P.,
Fryd S.,
Hsu H.,
Adams J. G.,
Steinberg M. H.
Publication year - 1991
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830360305
Subject(s) - haplotype , sickle cell anemia , globin , genotype , biology , hemoglobinopathy , fetal hemoglobin , anemia , hemoglobin , immunology , restriction site , genetics , hemoglobin c , gene , gene cluster , hemolytic anemia , cell , medicine , biochemistry , restriction enzyme , pregnancy , fetus
Abstract In 113 black American adults with sickle cell anemia (HbSS), we examined nine polymorphic restriction sites, including the Xmnl site 5' to the G γ gene, to see whether haplotype is related to the level of HbF and the proportion of G γ chains or if it influences the hematological and clinical features of the disease. Seventy‐five percent of the patients were homozygous or heterozygous for the Benin (no. 19) or Central African Republic (Bantu, no.20) haplotypes; 13.3% were homozygous fo heterozygous for the Senegal (no.3) haplotype, while 11.5% had other genotypes. Of the subjects, 14.2% were either homozygous or heteroxygous for the Xmnl restriction site 5' to the G γ gene. We found no effect of haplotype on HbF levels. The level of G γ chains was 60.5% ± 17.0% in individuals with other haplotypes. Subjects with the Xmnl site 5' to the G γ gene had G γ globin levels of 59.5% ± 16.7% while those lacking that site had an average of 47.2% ± 12.1%. There were no significant differences among these groups in hemoglobin concentration, packed cell volume, mean cell volume, or haplotype 3 and the 5' G γ Xmnl site were associated with increased G γ chains, there was no effect on HbF level or other hematological and clinical features that might reflect disease severity. It is likelu that determinants unrelated to haplotype, linked or unlinked to the β‐globin gene cluster, are the major effectors of differences in the levels of HbF in American patients with sickle cell anemia.