Article
Hb Cervantes, Hb Marañón, Hb La Mancha and Hb Goya: Description of 4 new haemoglobinopathies.
Clinical biochemistry - 1 Jul 2015
de la Fuente-Gonzalo Félix, Nieto Jorge M, Ricard Pilar, Anguita Javier, Martínez Rosalina, Cervera Aurea, Villegas Ana, González Fernando A, Ropero Paloma
Abstract excerpt
OBJECTIVES: α-thalassemias are caused by a deficiency in or absence of synthesis of the α-chain of haemoglobin (Hb). In contrast, structural haemoglobinopathies are due to mutations that change the amino acid sequence of the protein chain. We report 4 newly identified α-chain Hb variants. Two variants were hyper-unstable, whereas the other 2 were structural variants with an altered electrophoretic mobility....
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