一名白人患者患有伴有血影蛋白分子缺陷的遗传性椭圆形红细胞增多症。
Hereditary elliptocytosis with a spectrin molecular defect in a white patient.
作者信息
Lecomte M C, Dhermy D, Garbarz M, Gautero H, Bournier O, Galand C, Boivin P
出版信息
Acta Haematol. 1984;71(4):235-40. doi: 10.1159/000206593.
PMID:6426236
Abstract
According to recent works, hereditary elliptocytosis (HE) appears to be related in some instances, to a defective self-association of spectrin (type I HE). We report a new case of type I HE observed in a white patient. Study of limited tryptic digestion of a spectrin dimer showed modification of a peptide involved in the dimer self-association process.
摘要
根据最近的研究，遗传性椭圆形红细胞增多症（HE）在某些情况下似乎与血影蛋白的自身缔合缺陷有关（I型HE）。我们报告了1例在1名白人患者中观察到的I型HE新病例。对血影蛋白二聚体有限胰蛋白酶消化的研究表明，参与二聚体自身缔合过程的一种肽发生了修饰。
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