Transient neonatal cyanosis associated with a new Hb F variant: Hb F viseu

• Published in: Journal of pediatric hematology/oncology Vol. 35; no. 2; p. e77
• Main Authors: Bento, Celeste, Magalhães Maia, Tabita, Carvalhais, Ines, Moita, Filipa, Abreu, Gabriela, Relvas, Luis, Pereira, Alexandra, Farela Neves, José, Ribeiro, Maria L
• Format: Journal Article
• Language: English
• Published: United States 01.03.2013
• Subjects: Cyanosis - etiology; Fetal Hemoglobin - genetics; Hemoglobin M - genetics; Hemoglobins, Abnormal - genetics; Humans; Infant, Newborn; Male; Methemoglobin - analysis
• ISSN: 1536-3678
• DOI: 10.1097/MPH.0b013e3182667be3

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.