科研之友
微信
新浪微博
Facebook
分享链接
摘要
In two unrelated families, several newborns developed cyanosis within the first days of life. For all of them, consecutive arterial blood gas analyses showed a right shift of the saturation curve, suggesting the presence of a hemoglobin (Hb) variant. A new (G)gamma-globin variant was detected, namely (G)gamma 105(G7)Leu -> His; HBG2: c.317T>A, that we named Hb F-Brugine/Feldkirch after the place of origin of the two families. This T to A conversion results in a leucine to histidine amino acid change at codon 105 of the (G)gamma-globin gene and caused a Hb variant with lowered oxygen affinity. The gamma to beta switch proceeded normally.
- 出版日期2014
- 单位河北医科大学
