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Hematological effects of atypical and cameroon β-globin gene haplotypes in adult sickle cell anemia

✍ Scribed by Steinberg, M. H.; Lu, Z.-H.; Nagel, R. L.; Venkataramani, S.; Milner, P. F.; Huey, L.; Safaya, S.; Rieder, R. F.

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
55 KB
Volume
59
Category
Article
ISSN
0361-8609

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✦ Synopsis

To examine the effects of unusual or atypical ␤-globin gene cluster haplotypes on the hematological features and Hb F levels of sickle cell anemia, we studied African Americans who had an atypical or Cameroon haplotype chromosome in association with a typical haplotype. We identified over 20 atypical haplotypes. The distribution of 5 subhaplotypes of the atypical chromosomes mirrored the distribution of common haplotypes in African Americans with sickle cell anemia. Neither 5 nor 3 subhaplotypes of the atypical chromosomes affected Hb F levels, packed cell volume, or mean corpuscular volume in individuals with a Benin chromosome. That the 5 subhaplotype is unaffected might be a consequence of the small numbers of Senegal 5 subhaplotypes in our sample, the need for linkage of both 5 and 3 subhaplotypes of any haplotype for an effect on Hb F to be present, or the likelihood that a normal ␤-globin gene contributed the 5 subhaplotypes of some atypical haplotypes. Am.

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