Effect of alpha-thalassemia and beta-globin gene cluster haplotypes on the hematological and clinical features of sickle-cell anemia in Brazil.
To compare the features of sickle-cell anemia in Brazil with those in other locales, we studied the effects of the beta-globin-like gene cluster haplotype and alpha-thalassemia upon the clinical and hematological features in 85 patients. The distribution of haplotypes differed from that in the United States and Jamaica. The Central African Republic (CAR) haplotype predominated; 34% of patients were CAR haplotype homozygotes, 45% CAR/Benin homozygotes, and 11% Benin homozygotes. No Senegal haplotype chromosomes were observed. Alpha-thalassemia was present in 17.5% of patients. HbF levels were higher in Benin homozygotes, compared with the other two groups (P < 0.05). Nearly half the patients with a CAR haplotype had leg ulcers, compared to 12.5% of the Benin homozygote group; stroke did not occur in alpha-thalassemia carriers, but neither result was statistically significant. As in other studies, our results indicate that the CAR haplotype may be associated with more severe disease.
Figueiredo
M S
MS
Federal University of São Paulo, Brazil.
Kerbauy
J
J
Gonçalves
M S
MS
Arruda
V R
VR
Saad
S T
ST
Sonati
M F
MF
Stoming
T
T
Costa
F F
FF
D000293:Adolescent; D000328:Adult; D000755:Anemia, Sickle Cell / Q000097:blood / Q000150:complications / Q000235:genetics*; D001938:Brazil; D002648:Child; D002675:Child, Preschool; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis; D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D005810:Multigene Family; D017085:alpha-Thalassemia / Q000097:blood / Q000150:complications / Q000235:genetics*
D005914:Globins; D005319:Fetal Hemoglobin