A New Hemoglobin Variant: Hb Jiujiang [&#945;18(A16)GlyâCys, <i>HBA2</i>: c.55G>T].

Lei, Ya-Li; Liang, Yue-Mei; Cao, Qun; Sui, Hong; Li, Dong-Zhi

A New Hemoglobin Variant: Hb Jiujiang [α18(A16)GlyâCys, HBA2: c.55G>T].

Lei, Ya-Li; Liang, Yue-Mei; Cao, Qun; Sui, Hong; Li, Dong-Zhi.

Afiliação

Lei YL; Clinical Laboratory, Dongguan Kanghua Hospital, Dongguan, People's Republic of China.
Liang YM; Clinical Laboratory, Dongguan Kanghua Hospital, Dongguan, People's Republic of China.
Cao Q; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou, People's Republic of China.
Sui H; Clinical Laboratory, Dongguan Kanghua Hospital, Dongguan, People's Republic of China.
Li DZ; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou, People's Republic of China.

Hemoglobin ; 45(4): 254-255, 2021 Jul.

Article em En | MEDLINE | ID: mdl-34547968

ABSTRACT

ABSTRACT

We have identified a new α chain hemoglobin (Hb) variant in a Chinese subject. Sequencing of the α-globin gene revealed a mutation in exon 1 at nucleotide 55, which results in the replacement of a glycine by cysteine at codon 18 [α18(A16)GlyâCys, HBA2 c.55G>T] that we have named Hb Jiujiang for the region of origin of the proband.

Assuntos

Cisteína; Hemoglobinas Anormais; Códon; Glicina/genética; Hemoglobina A2/genética; Hemoglobinas Anormais/genética; Humanos; alfa-Globinas/genética

Palavras-chave

Hb Jiujiang; hemoglobin (Hb) variant; hemoglobinopathy; α-globin chain

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hemoglobinas Anormais / Cisteína Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Hemoglobin Ano de publicação: 2021 Tipo de documento: Article

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