Article
Non-deletional alpha thalassaemia: a review.
Orphanet journal of rare diseases - 29 Jun 2020
Kalle Kwaifa Ibrahim, Lai Mei I, Md Noor Sabariah
Abstract excerpt
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 intrauterine death. The presence of one functional alpha gene is associated with haemoglobin H disease, characterised by...
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