Neonatal Cyanosis Due to a Novel Fetal Hemoglobin: Hb F-Circleville [Gγ63(E7)His→Leu, CAT>CTT].

Autor:	Dainer, Erin, Shell, Richard, Miller, Randy, Atkin, Joan F., Pastore, Matt, Kutlar, Abdullah, Zhuang, Lina, Holley, Leslie, Davis, Debra H., Kutlar, Ferdane
Předmět:	CYANOSIS HEMOGLOBINS METHEMOGLOBINEMIA NEWBORN infants CUTANEOUS manifestations of general diseases
Zdroj:	Hemoglobin; Dec2008, Vol. 32 Issue 6, p596-600, 5p, 1 Chart, 1 Graph
Abstrakt:	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 Gγ variants causing methemoglobinemia and cyanosis in the newborn have been reported to date. Here we describe a novel fetal Hb variant, Hb F-Circleville [Gγ63(E7)His→Leu], associated with methemoglobinemia and cyanosis in the newborn. The patient's sister also had neonatal cyanosis at birth. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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