Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Unidade de Eritropatologia e Metabolismo do Ferro, |
RCV000984481 | SCV000999198 | pathogenic | Cyanosis, transient neonatal | 2019-11-27 | criteria provided, single submitter | clinical testing | The p.L29M variant (Hb F-M Viseu) associates with the methemoglobin (Met-Hb) phenotype. The mutation occurs in the Y-globin chain, hence the methaemoglobinaemia is transitory, resolving with the transition from fetal to adult haemoglobin. It was first reported in neonates with cyanosis. |