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

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.

• Authors: Félix de la Fuente-Gonzalo, Jorge M Nieto, Pilar Ricard, Javier Anguita, Rosalina Martínez, Aurea Cervera, Ana Villegas, Fernando A González, Paloma Ropero
• Journal: Clinical biochemistry (Clin Biochem) Vol. 48 Issue 10-11 Pg. 662-7 (Jul 2015) ISSN: 1873-2933 [Electronic] United States
• PMID: 25943047 (Publication Type: Journal Article)
• Copyright: Copyright © 2015 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.

Chemical References

• Hemoglobins, Abnormal

Topics

• Adolescent
• Adult
• Child, Preschool
• Female
• Genetic Variation (genetics)
• Hemoglobinopathies (blood, diagnosis, genetics)
• Hemoglobins, Abnormal (genetics, metabolism)
• Humans
• Male
• Middle Aged
• Young Adult