HEMATOLOGICAL EFFECTS OF ATYPICAL AND CAMEROON BETA-GLOBIN GENE HAPLOTYPES IN ADULT SICKLE-CELL-ANEMIA

To examine the effects of unusual or atypical beta-globin gene cluster haplotypes on the hematological features and Hb F levels of sickle ce ll anemia, we studied African Americans who had an atypical or Cameroo n haplotype chromosome in association with a typical haplotype, We ide ntified over 20 atypical haplotypes, The distribution of 5' sub-haplot ypes of the atypical chromosomes mirrored the distribution of common h aplotypes in African Americans with sickle cell anemia. Neither 5' nor 3' subhaplotypes of the atypical chromosomes affected Hb F levels, pa cked cell volume, or mean corpuscular volume in individuals with a Ben in chromosome. That the 5' subhaplotype is unaffected might be a conse quence 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 beta-globin gene contributed the 5' subhaplotypes of some atypical hap lotypes, Am. J, Hematol, 59:121-126, 1998. (C) 1998 Wiley-Liss, Inc.