Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville [Ggamma63(E7)His-->Leu, CAT>CTT].
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.
Dainer
Erin
E
Department of Medicine, Medical College of Georgia, Augusta, GA 30912, USA.
Shell
Richard
R
Miller
Randy
R
Atkin
Joan F
JF
Pastore
Matt
M
Kutlar
Abdullah
A
Zhuang
Lina
L
Holley
Leslie
L
Davis
Debra H
DH
Kutlar
Ferdane
F
D019943:Amino Acid Substitution; D001483:Base Sequence; D003490:Cyanosis / Q000209:etiology / Q000235:genetics*; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics*; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal; D006639:Histidine / Q000737:chemistry / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007930:Leucine / Q000737:chemistry / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics
D006455:Hemoglobins, Abnormal; D006639:Histidine; D005914:Globins; D005319:Fetal Hemoglobin; D007930:Leucine