论文部分内容阅读
血红蛋白M 病是血红蛋白α链或β链与血红素邻近的一些氨基酸被取代,在临床上表现为紫绀的常染色体显性遗传病.国内报道较少笔者发现1例,追溯其家系发现8人患病,经6年随访观察,患儿生长发育正常,现报告如下。先证者女性3岁,足月顺产,第4胎.无窒息史.出生后即发现口唇发绀,之后因生长发育正常未引起家长重视。3岁时因全身紫绀明显,哭闹时更甚而来院就诊.体检:紫绀为唯一异常所见。睑结膜、
Hemoglobin M disease is the hemoglobin α chain or β chain and heme adjacent to some amino acids are replaced, the clinical manifestations of cyanotic autosomal dominant disease .Individual reported less I found in 1 case, traced back to its family of 8 people found Disease, after 6 years of follow-up observation, children with normal growth and development, are as follows. Probate female 3 years old, full-term natural delivery, the first 4. No history of asphyxiation .Is found after birth lips cyanosis, followed by growth and development of normal did not cause parents attention. 3 years old due to systemic cyanosis was obvious, even when crying to the hospital. Physical examination: cyanosis as the only exception seen. Conjunctiva,