Figueiredo M S, Kerbauy J, Gonçalves M S, Arruda V R, Saad S T, Sonati M F, Stoming T, Costa F F
Federal University of São Paulo, Brazil.
Am J Hematol. 1996 Oct;53(2):72-6. doi: 10.1002/(SICI)1096-8652(199610)53:2<72::AID-AJH3>3.0.CO;2-0.
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.
为比较巴西镰状细胞贫血的特征与其他地区的特征，我们研究了β - 珠蛋白样基因簇单倍型和α - 地中海贫血对85例患者临床和血液学特征的影响。单倍型分布与美国和牙买加不同。中非共和国（CAR）单倍型占主导；34%的患者为CAR单倍型纯合子，45%为CAR/贝宁纯合子，11%为贝宁纯合子。未观察到塞内加尔单倍型染色体。17.5%的患者存在α - 地中海贫血。与其他两组相比，贝宁纯合子的HbF水平更高（P < 0.05）。近一半携带CAR单倍型的患者有腿部溃疡，而贝宁纯合子组为12.5%；α - 地中海贫血携带者未发生中风，但两个结果均无统计学意义。与其他研究一样，我们的结果表明CAR单倍型可能与更严重的疾病有关。
