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Effect of β-Globin gene cluster haplotype on the hematological and clinical features of sickle cell anemia

✍ Scribed by R. F. Rieder; S. Safaya; P. Gillette; S. Fryd; H. Hsu; J. G. Adams III; M. H. Steinberg

Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
650 KB
Volume
36
Category
Article
ISSN
0361-8609

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✦ Synopsis

In 113 black American adults with sickle cell anemia (HbSS), we examined nine polymorphic restriction sites, including the Xmnl site 5' to the Gy gene, to see whether haplotype is related to the level of HbF and the proportion of G-y 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 hornozygous or heterozygous for the Senegal (no.

  1. haplotype, while 11.5% had other genotypes. Of the subjects, 14.2% were either homozygous or heterozygous for the Xmnl restriction site 5' to the Gy gene. We found no effect of haplotype on HbF levels. The level of Gy chains was 60.5% ? 17.0% in individuals heterozygous or homozygous for haplotype no. 3 and was 46.9% * 11.6% in individuals with other haplotypes. Subjects with the Xmnl site 5' to the Gy gene had Gy globin levels of 59.5% _f 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 clinical indicators of vaso-occlusive severity, including crises, hospitalizations per year, aseptic bone necrosis, acute chest syndrome, or leg ulcers. While the presence of haplotype 3 and the 5' Gy Xmnl site were associated with increased Gy chains, there was no effect on HbF level or other hematological and clinical features that might reflect disease severity. It is likely that determinants unrelated to haplotype, linked or unlinked to the p-globin gene cluster, are the major effectors of differences in the levels of HbF in American patients with sickle cell anemia.

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