Priest J R, Watterson J, Jones R T, Faassen A E, Hedlund B E
Department of Pediatric Hematology/Oncology, Children's Hospital of St Paul, MN 55102.
Pediatrics. 1989 May;83(5):734-6.
A well but cyanotic newborn was found to have a mutant gamma-globin chain, leading to a functionally abnormal fetal hemoglobin. A single amino acid substitution was found in a site consistent with known adult M hemoglobins. This patient showed no clinical evidence of cyanosis at 5 weeks of age as gamma-chain synthesis was replaced by beta-chain synthesis. A sibling born 20 months later was also cyanotic and the same mutant hemoglobin was found.
一名健康但发绀的新生儿被发现有一条突变的γ-珠蛋白链，导致胎儿血红蛋白功能异常。在一个与已知成人M型血红蛋白一致的位点发现了单个氨基酸替代。该患者在5周龄时无发绀的临床证据，因为γ链合成被β链合成所取代。20个月后出生的一名同胞也有发绀，且发现了相同的突变血红蛋白。
