Adekile A D, Huisman T H
Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
Acta Haematol. 1993;90(1):34-8. doi: 10.1159/000204370.
We have evaluated hematological data for numerous blood samples collected from 51 sickle cell anemia (SS) patients during their first 10 years of life. Haplotypes and alpha-globin gene status were determined in all patients. A total of 482 hematological evaluations and 317 fetal hemoglobin (Hb F) determinations are presented. The data show that the Hb F levels are the highest in patients with haplotypes 3/3 and the lowest in those with haplotypes 20/20. This is reflected in differences in total hemoglobin, PCV value, and RBC counts, which are the lowest in the 20/20 group and the highest in the 3/3 group. Female SS patients with haplotypes 19/19 have higher Hb F levels than their male counterparts; the same was observed for the patients with the 19/3 haplotype combination but not for those with the 20/3 haplotype combination. A concomitant alpha-thalassemia-2 heterozygosity had little or no effect on the hemoglobin level. The data confirm that SS children, aged 1-10 years, with a homozygosity for haplotype No. 20 are most severely affected by their disease.
我们评估了从51名镰状细胞贫血（SS）患者10岁前采集的大量血样的血液学数据。测定了所有患者的单倍型和α-珠蛋白基因状态。共进行了482次血液学评估和317次胎儿血红蛋白（Hb F）测定。数据显示，单倍型为3/3的患者Hb F水平最高，单倍型为20/20的患者Hb F水平最低。这反映在总血红蛋白、红细胞压积值和红细胞计数的差异上，20/20组这些指标最低，3/3组最高。单倍型为19/19的女性SS患者Hb F水平高于男性患者；单倍型为19/3的患者也观察到同样情况，但单倍型为20/3的患者未观察到。α-地中海贫血-2杂合性对血红蛋白水平几乎没有影响。数据证实，1至10岁的纯合子单倍型20的SS儿童受疾病影响最严重。
