Haemoglobin Dhofar is linked to the codon 29 C-->T (IVS-1 nt-3) splice mutation which causes beta+ thalassaemia.

doi:10.1111/j.1365-2141.1995.tb03409.x

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Article

Haemoglobin Dhofar is linked to the codon 29 C-->T (IVS-1 nt-3) splice mutation which causes beta+ thalassaemia.

British journal of haematology - 1 May 1995

Williamson D, Brown K P, Langdown J V, Baglin T P

Abstract excerpt

Investigations of a young man with apparent thalassaemia minor showed that he was a heterozygote for a rare abnormal haemoglobin variant, Hb Dhofar. The amino acid replacement is in the beta-globin chain (beta 58 Pro-->Arg) and is therefore not consistent with the observed proportion of Hb Dhofar...

Topics

Base Sequence
Female
Globins
Hemoglobins, Abnormal
Humans
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
beta-Thalassemia

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