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一种新的先天性红细胞生成异常性贫血。

A new congenital dyserythropoietic anaemia.

作者信息

Ohisalo J J, Viitala J, Lintula R, Ruutu T

机构信息

III Department of Medicine, University Central Hospital, Helsinki, Finland.

出版信息

Br J Haematol. 1988 Jan;68(1):111-4. doi: 10.1111/j.1365-2141.1988.tb04187.x.

Abstract

A new dominantly inherited dyserythropoietic anaemia is described. In the bone marrow, many of the nonspecific morphological characteristics described in congenital dyserythropoietic anaemias were seen; however, dysmorphic cells were rare. The acidified serum test was positive with one out of 17 sera tested; the negative sera included two that had haemolysed HEMPAS erythrocytes in the acid Ham test. Anti-i-agglutination was negative. No aberrations of red cell membrane protein glycosylation were observed. Serum cholesterol was low. Bilirubin conjugation was deficient but icterus was resolved by treatment with phenobarbital.

摘要

本文描述了一种新的显性遗传性异常红细胞生成性贫血。在骨髓中,可见先天性异常红细胞生成性贫血中所描述的许多非特异性形态学特征;然而,异形细胞很少见。在检测的17份血清中,1份酸化血清试验呈阳性;阴性血清中包括2份在酸性Ham试验中能使HEMPAS红细胞发生溶血的血清。抗-i凝集反应为阴性。未观察到红细胞膜蛋白糖基化异常。血清胆固醇水平较低。胆红素结合存在缺陷,但通过苯巴比妥治疗黄疸得以消退。

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