Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville [Ggamma63(E7)His-->Leu, CAT>CTT].
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Dainer E, Shell R, Miller R, Atkin JF, Pastore M, Kutlar A, Zhuang L, Holley L, Davis DH, Kutlar F
Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville [Ggamma63(E7)His-->Leu, CAT>CTT].
Hemoglobin. 2008;32(6):596-600. doi: 10.1080/03630260802507915.
- PubMed ID
- 19065339 [ View in PubMed]
- Abstract
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.