Tillmann W
Wien Med Wochenschr. 1986;136 Spec No:14-6.
Impairment of red cell deformability (and decrease of survival time) is the common trait of congenital haemolytic anemias with the exception of the enzyme defect glucose-6-phosphate-dehydrogenase (GPDH) deficiency. Causes for increased red cell rigidity may be: spherocytosis (familial hemolytic anemia), instable less fluid Hb (instable hemoglobinopathy), abnormal HbS-formation (sickle cell disease), genetic synthesis defect of Hb chains (homozygous beta-thalassemia), enzyme defects (autosomal recessive pyruvate-kinase deficiency). With GPDH red cell deformability remains unchanged. Splenectomy may be beneficial in anemias with erythrocyte rigidification if clinical condition so requires (repeated transfusions, aplastic and hemolytic crises). Assessment of red cell deformability in vitro saves laborous and exposure to radiation involving testing of cell survival time (e.g. radiochrome test).
除了酶缺陷葡萄糖-6-磷酸脱氢酶(GPDH)缺乏症外,红细胞变形能力受损(以及存活时间缩短)是先天性溶血性贫血的共同特征。红细胞刚性增加的原因可能是:球形红细胞增多症(家族性溶血性贫血)、不稳定的低流动性血红蛋白(不稳定血红蛋白病)、异常的血红蛋白S形成(镰状细胞病)、血红蛋白链的遗传合成缺陷(纯合子β地中海贫血)、酶缺陷(常染色体隐性丙酮酸激酶缺乏症)。对于GPDH,红细胞变形能力保持不变。如果临床情况需要(反复输血、再生障碍性和溶血性危机),脾切除术对于红细胞刚性增加的贫血可能有益。体外评估红细胞变形能力避免了涉及检测细胞存活时间(如放射性铬试验)的费力且有辐射暴露的检测。