由一种新型胎儿血红蛋白引起的新生儿紫绀：Hb F- Circleville [Gγ63(E7)组氨酸→亮氨酸，CAT>CTT]
Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville [Ggamma63(E7)His-->Leu, CAT>CTT].
作者信息
Dainer Erin, Shell Richard, Miller Randy, Atkin Joan F, Pastore Matt, Kutlar Abdullah, Zhuang Lina, Holley Leslie, Davis Debra H, Kutlar Ferdane
机构信息
Department of Medicine, Medical College of Georgia, Augusta, GA 30912, USA.
出版信息
Hemoglobin. 2008;32(6):596-600. doi: 10.1080/03630260802507915.
Neonatal cyanosis can result from a multitude of acquired and inherited causes. Cyanosis resulting from fetal M hemoglobin (Hb) variants is very rare. Only two (G)gamma variants causing methemoglobinemia and cyanosis in the newborn have been reported to date. Here we describe a novel fetal Hb variant, Hb F-Circleville [Ggamma63(E7)His-->Leu], associated with methemoglobinemia and cyanosis in the newborn. The patient's sister also had neonatal cyanosis at birth.
新生儿发绀可由多种后天性和遗传性原因引起。胎儿高铁血红蛋白（Hb）变异导致的发绀非常罕见。迄今为止，仅报道了两种导致新生儿高铁血红蛋白血症和发绀的（G）γ变异体。在此，我们描述一种新的胎儿Hb变异体，即Hb F- Circleville [Gγ63（E7）His→Leu]，它与新生儿高铁血红蛋白血症和发绀有关。该患者的妹妹出生时也有新生儿发绀。
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