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Clin Biochem. 2015 Jul;48(10-11):662-7. doi: 10.1016/j.clinbiochem.2015.04.020. Epub 2015 May 2.

Hb Cervantes, Hb Marañón, Hb La Mancha and Hb Goya: Description of 4 new haemoglobinopathies.

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Servicio de Hematología, Hospital Clínico San Carlos de Madrid, Madrid, Spain. Electronic address:
Servicio de Hematología, Hospital Clínico San Carlos de Madrid, Madrid, Spain.
Servicio de Hematología, Hospital Fundación de Alcorcón, Madrid, Spain.
Servicio de Oncología Infantil, Hospital Universitario Gregorio Marañón, Madrid, Spain.
Servicio de Análisis Clínicos, Complejo Hospitalario de Albacete, Albacete, Spain.
Servicio de Pediatría, Hospital Universitario de Móstoles, Madrid, Spain.



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.


The first 2 families were identified because of microcytosis and hypochromia with a normal Hb A2 and Hb F but without iron deficiency. The other 2 families came to scrutiny because of a peak of abnormal Hb during routine analytical assays. These Hb variants were characterized by specific sequencing.


The hyper-instability of Hb Cervantes is probably due to its lower affinity for the alpha chain haemoglobin-stabilizing protein (AHSP). Hb Marañón is another unstable Hb variant that produces an α-thalassemia phenotype. For the identification of Hb La Mancha, a molecular characterization by sequencing was required. Finally, Hb Goya was found to have the same electrophoretic mobility as Hb J. A lower percentage of the variant was obtained due to a possible component of instability, though the patient did not show evidence of anaemia.


These variants of Hb add to the variety and complexity of disorders of the genes that encode Hb.


Alpha-thalassemia; Anaemia; Capillary zone electrophoresis; Ion exchange HPLC; Reverse phase HPLC; Sequencing; Structural haemoglobinopathy

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