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 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' sub-haplotypes 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 beta-globin gene contributed the 5' subhaplotypes of some atypical haplotypes.
Department of Medicine, VA Medical Center, University of Mississippi School of Medicine, Jackson 39216, USA. mhs@fiona.umsmed.edu
M H
MH
Steinberg
Z H
ZH
Lu
R L
RL
Nagel
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S
Venkataramani
P F
PF
Milner
L
L
Huey
S
S
Safaya
R F
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Rieder
D000328:Adult; D000755:Anemia, Sickle Cell / Q000235:genetics* / Q000503:physiopathology*; D044383:Black People / Q000235:genetics; D001772:Blood Cell Count; D005319:Fetal Hemoglobin / Q000032:analysis; D005914:Globins / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics / Q000502:physiology; D006801:Humans; D005810:Multigene Family / Q000235:genetics / Q000502:physiology; D014481:United States; D001741:Black or African American
D005914:Globins; D005319:Fetal Hemoglobin