Chrobák L, Radochová D, Smetana K, Matĕja F, Kout M, Polák J, Dítĕ P, Pribroský J, Dvorácková I
Folia Haematol Int Mag Klin Morphol Blutforsch. 1980;107(4):628-40.
These siblings of a Czech family aged 21, 19 and 6 years, respectively, with congenital dyserythropoietic anemia, type II, (HEMPAS) are reported. In two elder siblings ferrokinetic studies revealed a rapid plasma 59Fe clearance, markedly decreased erythrocyte incorporation and shortened 51Cr red-cell survival. Direct anti-globulin test was found positive in one of them. Further investigations revealed low values of blood plasma cholesterol, total lipids, beta-lipoproteins, beta-carotine and vitamin E and A as well as low values of the prothrombin complex. Liver biopsy demonstrated siderosis and disseminated intravascular coagulation in the liver in both patients. The possible reasons for these humoral aberrations are discussed.
本文报道了一个捷克家庭中分别为21岁、19岁和6岁的兄弟姐妹，他们患有II型先天性红细胞生成异常性贫血（HEMPAS）。对两位年长的兄弟姐妹进行的铁动力学研究显示，血浆59Fe清除迅速，红细胞摄取明显减少，51Cr红细胞存活期缩短。其中一人直接抗球蛋白试验呈阳性。进一步检查发现血浆胆固醇、总脂质、β脂蛋白、β胡萝卜素、维生素E和A以及凝血酶原复合物的值较低。肝活检显示两名患者肝脏均有铁沉积和弥散性血管内凝血。文中讨论了这些体液异常的可能原因。
