Higgs D R, Aldridge B E, Lamb J, Clegg J B, Weatherall D J, Hayes R J, Grandison Y, Lowrie Y, Mason K P, Serjeant B E, Serjeant G R
N Engl J Med. 1982 Jun 17;306(24):1441-6. doi: 10.1056/NEJM198206173062402.
Patients with homozygous sickle-cell disease may be homozygous for alpha-thalassemia 2 (alpha-/alpha-), may be heterozygous for alpha-thalassemia 2 (alpha-/alpha alpha), or may have a normal alpha-globin-gene complement (alpha alpha/alpha alpha). We compared the clinical and hematologic features of 44 patients who had sickle-cell disease and homozygous alpha-thalassemia 2 with those of controls with the two hematologic conditions. The patients with homozygous alpha-thalassemia 2 had significantly higher red-cell counts and levels of hemoglobin and hemoglobin A2, as well as significantly lower hemoglobin F, mean corpuscular hemoglobin, mean corpuscular hemoglobin concentration, mean corpuscular volume, reticulocyte counts, irreversibly-sickled cell counts, and serum total bilirubin levels, than those with a normal alpha-globin-gene complement. Heterozygotes (alpha-/alpha alpha) had intermediate values. In the group with homozygous alpha-thalassemia 2, fewer patients had episodes of acute chest syndrome and chronic leg ulceration and more patients had splenomegaly, as compared with patients in other two subgroups. These data confirm previous suggestions that alpha-thalassemia inhibits in vivo sickling in homozygous sickle-cell disease and may be an important genetic determinant of its hematologic severity.
纯合子镰状细胞病患者可能是α地中海贫血2型的纯合子（α-/α-），可能是α地中海贫血2型的杂合子（α-/αα），或者可能具有正常的α珠蛋白基因互补型（αα/αα）。我们比较了44例患有镰状细胞病和纯合子α地中海贫血2型的患者与具有另外两种血液学状况的对照组的临床和血液学特征。与具有正常α珠蛋白基因互补型的患者相比，纯合子α地中海贫血2型的患者红细胞计数、血红蛋白及血红蛋白A2水平显著更高，而血红蛋白F、平均红细胞血红蛋白、平均红细胞血红蛋白浓度、平均红细胞体积、网织红细胞计数、不可逆镰状细胞计数及血清总胆红素水平则显著更低。杂合子（α-/αα）的值处于中间水平。与其他两个亚组的患者相比，在纯合子α地中海贫血2型组中，发生急性胸部综合征和慢性腿部溃疡的患者较少，脾肿大的患者较多。这些数据证实了先前的推测，即α地中海贫血在纯合子镰状细胞病中可抑制体内镰状化，并且可能是其血液学严重程度的重要遗传决定因素。
