1.
Hemoglobin
; 41(4-6): 283-285, 2017.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29043885
RESUMO
We report a novel HBB: c.114G>C mutation in a Chinese family. This mutation resulted in a ß37(C3)TrpâCys amino acid substitution and was synonymous with Hb Kent, a hemoglobin (Hb) variant that was reported exclusively in patients of European descent. Though Hb Kent has a normal oxygen affinity and molecular stability, it has a characteristic dual variant appearance on cellulose acetate electrophoresis (CAE) and high performance liquid chromatography (HPLC) caused by the posttranslational modification of cysteine. We also report the phenotypic expression of this variant when coinherited with the Southeast Asian (- -SEA) double α-globin gene deletion.
Assuntos
Hemoglobinas Anormais/genética , Mutação de Sentido Incorreto , Adulto , Substituição de Aminoácidos , Povo Asiático , China , Família , Feminino , Hemoglobinas Anormais/metabolismo , Humanos , Masculino
2.
Blood
; 126(24): 2642, 2015 Dec 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26966746