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THE MOLECULAR BASIS FOR β° THALASSAEMIA INTERMEDIA IN AN IRANIAN INDIVIDUAL
Author(s) -
Trent R. J.,
Wainscoat J. S.,
Huehns E. R.,
Clegg J. B.,
Weatherall D. J.
Publication year - 1982
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1982.tb03921.x
Subject(s) - intermedia , thalassemia , medicine , genetics , biology , computational biology , history , performance art , art history
S ummary . A symptomless Iranian patient homozygous for β thalassaemia has haematological changes similar to the β thalassaemia trait. This remarkably mild phenotype is probably the result of coexistent α thalassaemia and increased γ chain synthesis. Restriction endonuclease mapping analysis of the β globin genes indicates that the patient is homozygous for a single nucleotide substitution at the 5’donor splice junction in the second intervening sequence of the β globin gene. No other changes were observed in the non‐α globin gene cluster. It seems unlikely that the augmented γ chain synthesis in this patient is related to the molecular defect responsible for his β° thalassaemia.