遗传性(先天性)高铁血红蛋白症,是一种少见的常染色体隐性遗传病,由于遗传性的NADH 黄递酶缺乏,使血红蛋白内的铁氧化还原失去平衡,导致三价铁的异常积聚,失去携氧功能,临床表现出生后即有紫绀,故又名先天性高铁血红蛋白症。我们发现一家兄妹7人,其中有4人发病,报告如下:临床资料先证者王某,女,22岁,农民,汉族。因口唇、面颊、耳垂、手足末端紫绀20余年,在外多次就诊原因不明,于1987年8月20日以紫绀原因待查住院。患者自出生后即有紫绀,但与活动无关,能胜任一般体力劳动,无心慌气短及蹲位现象。家族中,父母非近亲结婚,无紫绀,理健在。兄妹7人,其中2兄1姐出生后即有紫绀,但发育正常,不影 Hereditary (congenital) methemoglobinemia is a rare autosomal recessive disease that is caused by an imbalance of iron redox in hemoglobin due to a hereditary deficiency of the diaphorase of NADH, leading to an abnormal accumulation of ferric iron, Loss of oxygen carrying function, that is, clinical manifestations of cyanosis after birth, it is also a congenital methemoglobin disease. We found a sibling 7 people, of which 4 were onset, the report is as follows: Clinical data Proof Wang, female, 22 years old, farmer, Han nationality. Due to the lips, cheeks, earlobe, hand, foot and end of cyanosis more than 20 years, multiple visits unknown reasons unknown, on August 20, 1987 to be hospitalized for cyanotic reasons. Since the birth of patients with cyanosis, but nothing to do with the activities, capable of general manual labor, confusion and shortness of breath and squatting phenomenon. Family, the parents of non-relatives married, no cyanosis, physical health in. Brother and sister 7 people, of which 2 brother and 1 sister born after birth cyanosis, but normal development, not shadow