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A ß-Thalassemia Trait with Two Mutations in Cis in a Chinese Family.
Hemoglobin ; 43(4-5): 289-291, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31690135
A female of Chinese origin carried the codon 43 (G>T) (HBB: c.130G > T) and codons 71/72 (+A) (HBB: c.216_217insA) mutations of the ß-globin gene in cis, identified during prenatal thalassemia screening. The double in cis mutations were inherited from her mother. Both of the two carriers behave as a traditional heterozygote for ß-thalassemia (ß-thal) with microcytosis and a high Hb A2 level. This case report indicates that the possibility of multiple mutations in cis in a fetus with thalassemia trait has to be considered in a prenatal screening program.





Texto completo: Disponível Coleções: Bases de dados internacionais Base de dados: MEDLINE Idioma: Inglês Revista: Hemoglobin Ano de publicação: 2019 Tipo de documento: Artigo