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 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.
Original language | English (US) |
---|---|
Pages (from-to) | 596-600 |
Number of pages | 5 |
Journal | Hemoglobin |
Volume | 32 |
Issue number | 6 |
DOIs | |
State | Published - Nov 2008 |
Keywords
- DNA sequencing
- Hemoglobin (Hb) variant
- High performance liquid chromatography (HPLC)
- Neonatal cyanosis
- γ chain
ASJC Scopus subject areas
- Hematology
- Genetics(clinical)
- Clinical Biochemistry
- Biochemistry, medical