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: Celeste Bento, Tabita Magalhães Maia, Ines Carvalhais, Filipa Moita, Gabriela Abreu, Luis Relvas, Alexandra Pereira, José Farela Neves, Maria L Ribeiro
• Journal: Journal of pediatric hematology/oncology (J Pediatr Hematol Oncol) Vol. 35 Issue 2 Pg. e77-80 (Mar 2013) ISSN: 1536-3678 [Electronic] United States
• PMID: 22935660 (Publication Type: Case Reports, Journal Article)

Chemical References

• Hemoglobins, Abnormal
• hemoglobin Viseu
• Methemoglobin
• Fetal Hemoglobin
• Hemoglobin M

Topics

• Cyanosis (etiology)
• Fetal Hemoglobin (genetics)
• Hemoglobin M (genetics)
• Hemoglobins, Abnormal (genetics)
• Humans
• Infant, Newborn
• Male
• Methemoglobin (analysis)