title: Transient neonatal cyanosis associated with a new Hb F variant: Hb F viseu.
abstract: Neonatal cyanosis in healthy newborns can be associated either with methemoglobin due to cytochrome b5 reductase deficiency or to M-hemoglobin, a group of hemoglobin variants resulting from mutations in the globin chain genes. We report the clinical case of a neonate with cyanosis and normal cardiac and respiratory function. At birth the hematological parameters were normal; however, the methemoglobinemia was 16%. Spontaneously, the cyanosis gradually decreased and by the fifth month of age the methemoglobin level was normal. A heterozygous Gγ-globin gene (HBG2) missense mutation 87 C-A (Leu28Met) was identified. His father, with a history of transfusion in the neonatal period, is heterozygous for the same mutation. This hemoglobin variant, not previously described, was called Hb F Viseu and is the sixth Gγ-chain variant reported in association with neonatal cyanosis.
authors.affiliation: Unidade de Anemias Congénitas, Centro Hospitalar e Universitário de Coimbra Coimbra, Portugal. celeste.bento@chc.min-saude.pt
authors.forename: Celeste
authors.initials: C
authors.lastname: Bento
authors.forename: Tabita
authors.initials: T
authors.lastname: Magalhães Maia
authors.forename: Ines
authors.initials: I
authors.lastname: Carvalhais
authors.forename: Filipa
authors.initials: F
authors.lastname: Moita
authors.forename: Gabriela
authors.initials: G
authors.lastname: Abreu
authors.forename: Luis
authors.initials: L
authors.lastname: Relvas
authors.forename: Alexandra
authors.initials: A
authors.lastname: Pereira
authors.forename: José
authors.initials: J
authors.lastname: Farela Neves
authors.forename: Maria L
authors.initials: ML
authors.lastname: Ribeiro
mesh_terms: D003490:Cyanosis / Q000209:etiology*; D005319:Fetal Hemoglobin / Q000235:genetics*; D006449:Hemoglobin M / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008706:Methemoglobin / Q000032:analysis
chemical_list: D006455:Hemoglobins, Abnormal; C511337:hemoglobin Viseu; D008706:Methemoglobin; D005319:Fetal Hemoglobin; D006449:Hemoglobin M