Buscar en
Medicina Clínica (English Edition)
Toda la web
Inicio Medicina Clínica (English Edition) Association between hemoglobin Groene Hart and hemoglobin J-Paris-I: First case ...
Journal Information
Vol. 144. Issue 5.
Pages 212-215 (March 2015)
Share
Share
Download PDF
More article options
Visits
85
Vol. 144. Issue 5.
Pages 212-215 (March 2015)
Clinical report
Association between hemoglobin Groene Hart and hemoglobin J-Paris-I: First case in Spain
Asociación de la hemoglobina Groene Hart con la hemoglobina J-París-I: primer caso en España
Visits
85
Félix de la Fuente-Gonzalo
Corresponding author
felixfuenteg@hotmail.com

Corresponding author.
, Paloma Ropero, Jorge Martínez-Nieto, Ana Villegas, Fernando A. González, Joaquín Díaz-Mediavilla
Servicio de Hematología, Hospital Clínico San Carlos, Madrid, Spain
This item has received
Article information
Abstract
Full Text
Bibliography
Download PDF
Statistics
Figures (2)
Tables (1)
Table 1. Hematological parameters and genotype of the study subjects.
Abstract
Background and objective

Thalassemias are the most frequent monogenic disorder around the world. α-Thalassemias are due to a deficiency of synthesis in the alpha-globin chain of the hemoglobin (Hb). Hb Groene Hart is a hyperunstable variant. In this work, we have studied 24 cases affected by Hb Groene Hart, one of them associated with Hb J-Paris-I.

Patients and methods

Twenty-four patients from 17 unrelated families were included in this study. The characterisation was done by sequencing.

Results

α1 gene sequencing showed the mutation CCT→TCT (Pro→Ser) at codon 119 (Hb Groene Hart) in all patients. In one case, there was an association with Hb J-Paris-I.

Conclusions

In the Hb Groene Hart, the residue 119 of alpha-globin chain is affected. This amino acid has a key role in preserving the stability of alpha-globin chain. It is also remarkable the presence of this variant in both the immigrant and native population. Thus, the identification of Hb Groene Hart carriers should be considered in the screening of α-thalassemia in Spain, as it is done in Northern Africa.

Keywords:
Non-deletional alpha-thalassemia
Hyperunstable hemoglobinopathies
Spanish
Morocco
Resumen
Fundamento y objetivo

Las talasemias son las enfermedades monogénicas más frecuentes a nivel mundial. Representan un grave problema sanitario en las regiones de mayor incidencia. Las α-talasemias se deben a un déficit de síntesis de las cadenas α de la hemoglobina (Hb). La Hb Groene Hart es una variante hiperinestable. En este trabajo se presentan 24 casos pertenecientes a 17 familias afectadas por la Hb Groene Hart, uno de ellos asociado con Hb J-París-I.

Pacientes y método

Veinticuatro pacientes de 17 familias no relacionadas fueron incluidos en este estudio. La caracterización se realizó mediante secuenciación.

Resultados

La secuenciación del gen α1 mostró la mutación CCT→TCT (Pro→Ser) en el codón 119 (Hb Groene Hart). En un paciente se asoció con la Hb J-París-I.

Conclusiones

En la Hb Groene Hart se encuentra afectado un residuo clave para preservar la estabilidad de las cadenas α de globina. La presencia de esta variante es elevada en población española e inmigrante. La aparición de formas graves de la enfermedad podría ser evitada incorporando esta mutación al cribado de las mutaciones α-talasemia no deleción.

Palabras clave:
Alfatalasemia no deleción
Hemoglobinopatías hiperinestables
Español
Marruecos

Article

These are the options to access the full texts of the publication Medicina Clínica (English Edition)
Subscriber
Subscriber

If you already have your login data, please click here .

If you have forgotten your password you can you can recover it by clicking here and selecting the option “I have forgotten my password”
Subscribe
Subscribe to

Medicina Clínica (English Edition)

Purchase
Purchase article

Purchasing article the PDF version will be downloaded

Price 19.34 €

Purchase now
Contact
Phone for subscriptions and reporting of errors
From Monday to Friday from 9 a.m. to 6 p.m. (GMT + 1) except for the months of July and August which will be from 9 a.m. to 3 p.m.
Calls from Spain
932 415 960
Calls from outside Spain
+34 932 415 960
E-mail
Article options
Tools
es en pt

¿Es usted profesional sanitario apto para prescribir o dispensar medicamentos?

Are you a health professional able to prescribe or dispense drugs?

Você é um profissional de saúde habilitado a prescrever ou dispensar medicamentos

Quizás le interese:
10.1016/j.medcle.2021.08.005
No mostrar más