Premium
Thalassaemia intermedia: a new molecular basis
Author(s) -
Thein S. L.,
AlHakim I.,
Hoffbrand A. V.
Publication year - 1984
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.1365-2141.1984.tb03960.x
Subject(s) - intermedia , phenotype , gene , restriction enzyme , alpha (finance) , genetics , biology , medicine , art , construct validity , nursing , performance art , patient satisfaction , art history
S ummary . A 5‐year‐old child heterozygous for β thalassaemia has the clinical picture of thalassaemia intermedia. Restriction endonuclease mapping shows that the child is homozygous for a triplicated α gene complex. The greater degree of globin chain imbalance resulting from two additional α chain genes is the likely mechanism for this unusually severe clinical phenotype.