Sickle cell disease in a patient with sickle cell trait and compound heterozygosity for hemoglobin S and hemoglobin Quebec-Chori.
Sickle cell disease in a patient with sickle cell trait and compound heterozygosity for hemoglobin S and hemoglobin Quebec-Chori.
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患有镰状细胞性状且血红蛋白 S 和血红蛋白 Quebec-Chori 复合杂合性患者的镰状细胞病。
DOI：
10.1056/nejm199110173251607
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发表时间：
1991
期刊：
影响因子：
--
通讯作者：
Cahn,S
中科院分区：
文献类型：
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作者：
Witkowska,HE;Lubin,BH;Beuzard,Y;Baruchel,S;Esseltine,DW;Vichinsky,EP;Kleman,KM;Bardakdjian-Michau,J;Pinkoski,L;Cahn,S
镰状细胞特征通常被认为是良性的，因为血红蛋白A和血红蛋白S（血红蛋白A/S）异型合子的红细胞中血红蛋白A的浓度超过50%会阻止剩余血红蛋白S在生理条件下的聚合。然而，偶尔有报道表明，在极度的身体压力或缺氧后，镰状细胞特征可能与严重的发病率甚至死亡有关。在大多数情况下，这种特征的诊断是直接的：血液学指标如血红蛋白、红细胞比容、红细胞指数和网织红细胞计数正常，电泳检查正常。
THE sickle cell trait is generally considered to be benign, because the presence of hemoglobin A in a concentration of more than 50 percent in the red cells of persons heterozygotic for hemoglobin A and hemoglobin S (hemoglobin A/S) prevents the polymerization of the remaining hemoglobin S under physiologic conditions.1Occasional reports suggest, however, that after extreme physical stress or hypoxia, the sickle cell trait can be associated with serious morbidity and even death.2–4In most cases, the diagnosis of this trait is straightforward: hematologic measures such as hemoglobin, hematocrit, red-cell indexes, and the reticulocyte count are normal, and electrophoretic . . .