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Abstract We identified a novel mutation of β-thalassemia (β-thal) in a heterozygous carrier from Azerbaijan. Phenotypical data and molecular mechanisms of codon 2 (–T) (HBB: c.9delT) was relevant to β0-thal.… Click to show full abstract
Abstract We identified a novel mutation of β-thalassemia (β-thal) in a heterozygous carrier from Azerbaijan. Phenotypical data and molecular mechanisms of codon 2 (–T) (HBB: c.9delT) was relevant to β0-thal. Additionally, we here report two new mutations on the HBB gene, not observed previously, in the local population as well as a non causative promoter mutation –198 (A>G) (HBB: c.-248A>G).
Keywords:
codon hbb;
hbb 9delt;
frameshift mutation;
novel frameshift;
mutation codon;
mutation
Journal Title: Hemoglobin
Year Published: 2019
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Journal Title: Hemoglobin
Year Published: 2019
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!