摘要
本文报告湖北西部一个红细胞生成性原卟啉病家系,共5例患者,男性3例,女性2例。在特定条件下,患者及其双亲之一的血液中可见荧光红细胞。且原卟啉含量高。通过该家系患者及亲属的调研,我们确认在该家系中红细胞生成性原卟啉病的遗传方式为常染色体隐性遗传。
This paper has reported a family with erythroprietic protoporphyria.There are total 5 patients,3 males and 2 females,in the family,It was obsered that the presence of an occasional fluorescent red blood cell was related with high protoporphyrin levels in the patients arid one of their parents.This study of the family led to the conclusion that the diseae of erythropoietic protoporphyria is inherited as an autosomal recessive disorder.
关键词
贵传性疾病
EPP
卟啉病
染色体病
hereditary diseases
erythrogenin
porphyria
chromosomes
