Table 4 Information of variants substituted at amino acid 28 of the β-globin and γ-globin
From: The first Chinese with Hb Chile leading to chronic anemia and methemoglobinemia: a case report
variants | Amino acid mutation | Gene mutation | Clinical phenotypes |
|---|---|---|---|
Hb F-M Viseu | γ28(B10) Leu > Met | HBG2:c.85 C > A | Methemoglobinemia, Unstable (10) |
Hb Chile | β28(B10) Leu > Met | HBB:c.85 C > A | Methemoglobinemia, Unstable (2) |
Hb Saint Louis | β28(B10) Leu > Gln | HBB:c.86T > A | Methemoglobinemia, Unstable (11) |
Hb Chesterfield | β28(B10) Leu > Arg | HBB:c.86T > G | Extremely unstable (12) |
Hb Genova | β28(B10) Leu > Pro | HBB:c.86T > C | Unstable (13) |