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Non-deletional alpha thalassaemia: a review

BACKGROUND: Defective synthesis of the α-globin chain due to mutations in the alpha-globin genes and/or its regulatory elements leads to alpha thalassaemia syndrome. Complete deletion of the 4 alpha-globin genes results in the most severe phenotype known as haemoglobin Bart’s, which leads to intraut...

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Detalles Bibliográficos
Autores principales: Kalle Kwaifa, Ibrahim, Lai, Mei I., Md Noor, Sabariah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7322920/
https://www.ncbi.nlm.nih.gov/pubmed/32600445
http://dx.doi.org/10.1186/s13023-020-01429-1