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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.

Author information

1
Servicio de Hematología, Hospital Clínico San Carlos de Madrid, Madrid, Spain. Electronic address: felixfuenteg@hotmail.com.
2
Servicio de Hematología, Hospital Clínico San Carlos de Madrid, Madrid, Spain.
3
Servicio de Hematología, Hospital Fundación de Alcorcón, Madrid, Spain.
4
Servicio de Oncología Infantil, Hospital Universitario Gregorio Marañón, Madrid, Spain.
5
Servicio de Análisis Clínicos, Complejo Hospitalario de Albacete, Albacete, Spain.
6
Servicio de Pediatría, Hospital Universitario de Móstoles, Madrid, Spain.

Abstract

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.

DESIGN AND METHODS:

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.

RESULTS:

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.

CONCLUSION:

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

KEYWORDS:

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

[Indexed for MEDLINE]

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