alexa Hb Nunobiki [ α 2 141(HC3) Arg→Cys; HBA2:c.424C>T] in Spain: Mutation de novo or Acquired? | OMICS International
ISSN: 2157-7412

Journal of Genetic Syndromes & Gene Therapy
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Research Article

Hb Nunobiki [ α 2 141(HC3) Arg→Cys; HBA2:c.424C>T] in Spain: Mutation de novo or Acquired?

Ropero P1*, González-Borrachero ML2, Peña A3, González FA1, Fuente-Gonzalo F de la1, Martínez J1, Vinuesa L1, Villegas A1 and Díaz-Mediavilla J1

1Servicio de Hematología, Hospital Clínico San Carlos, Madrid, Spain

2Servicio de Análisis Clínicos, Hospital de Jerez, Cádiz, Spain

3Servicio de Análisis Clínicos, Hospital Virgen de la Victoria, Málaga, Spain

*Corresponding Author:
Dr. Paloma Ropero
Servicio de Hematología y Hemoterapia
Hospital Clínico San Carlos
C/ Profesor Martín Lagos s/n
28040 Madrid, Spain
E-mail: [email protected]

Received date: July 02, 2013; Accepted date:September 18, 2013; Published date: September 27, 2013

Citation: Ropero P, González-Borrachero ML, Peña A, González FA, de la FGF, et al. (2013) Hb Nunobiki [α2 141(HC3) Arg→Cys; HBA2:c.424C>T] in Spain: Mutation de novo or Acquired? J Genet Syndr Gene Ther 4:180. doi:10.4172/2157-7412.1000180

Copyright: © 2013 Ropero P, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

The most common hemoglobin arose as an adaptation to the environment and its expansion was carried out by mechanisms of gene flow and population growth related to the social changes of habits of mankind. Other hemoglobinopathies (Hbs) to have low prevalence and appear in population studies of Hb or glycosylated hemoglobin (Hb A1c). Most of these Hbs have been identified in isolation and individually, others in a few families, considering these cases de novo mutations or that the mutated gene has been transported inadvertently. An example is Hb Nunobiki, discovered in Japan and Belgium. We report 7 cases from four families in Andalusia, identified during the quantification of Hb A1c. In all cases, both by capillary electrophoresis and ion exchange HPLC (II-HPLC), HBX appeared faster than HbA. By reverse phase HPLC eluted globin chain slower than αA, αX. Sequencing of gene α2 shown the substitution (CGT>TGT) in exon 3 CD141(Arg>Cys)→Hb Nunobiki. This hemoglobin has increased affinity for oxygen but was not detected by polycythemia due to the low percentage of variant since it is α chain, but because it showed during the determination of Hb A1c. This fact confirms that the II-HPLC is the gold standard for identification of hemoglobinopathies. The quantification of Hb A1c, by HPLC can identify structural Hb variants that otherwise would not have been detected and are clinically silent but may help clarify the evolution, adaptation and distribution of hemoglobin to the medium.

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