Buscar en
Medicina Clínica (English Edition)
Toda la web
Inicio Medicina Clínica (English Edition) Delta0-thalassemia by insertion of 27 base pairs in δ-globin gene with decrease...
Journal Information
Vol. 144. Issue 7.
Pages 312-316 (April 2015)
Share
Share
Download PDF
More article options
Visits
508
Vol. 144. Issue 7.
Pages 312-316 (April 2015)
Clinical report
Delta0-thalassemia by insertion of 27 base pairs in δ-globin gene with decreased hemoglobin A2 levels
Delta0-talasemia por inserción de 27 pares de bases en el gen δ-globina con descenso de los valores de hemoglobina A2
Visits
508
Maria Luisa González Borracheroa, Félix de la Fuente-Gonzalob, Fernando Ataúlfo Gonzálezb, Jorge M. Nietob, Ana Villegasb, Paloma Roperob,
Corresponding author
paloma.ropero@salud.madrid.org

Corresponding author.
a Servicio de Bioquímica, Hospital de Jerez, Jerez, Cádiz, Spain
b Servicio de Hematología y Hemoterapia, Hospital Clínico San Carlos, Madrid, Spain
This item has received
Article information
Abstract
Full Text
Bibliography
Download PDF
Statistics
Figures (2)
Abstract
Background and objective

We describe a novel delta-thalassemia mutation causing decreased hemoglobin (Hb) A2 levels associated with Hb Watts, variant Hb resulting from a trinucleotide deletion in Spain.

Patients and method

Hb variant analysis was performed by cation-exchange high performance liquid chromatography (HPLC) and capillary zone electrophoresis. Polymerase chain reaction and DNA sequence analyses were used to identify mutations in the δ- and α-globin genes.

Results

Abnormal Hb was observed on capillary zone electrophoresis in Z6 and by cation-exchange HPLC a slower peak than HbA was observed at an retention time of 4.19min. This variant Hb is called Hb Watts [α2 74(EF3)Asp->0 or α2 75(EF4)Asp->0; HBA2:c.226_228delGAC]. The decreased HbA2 percentage owes to an insertion of 27nt between nt 83 and 84 of IVS-I of the δ-globin gene.

Conclusions

When analyzing a chromatogram, the possibility of the existence of delta-thalassemia or an HbA2 variant should be considered, apart from alfa-, beta-thalassemia and structural hemoglobinopathies. To this end, each of the peaks and their percentages should be considered to allow for correct interpretation and to avoid misdiagnosis as much as possible.

Keywords:
Delta-thalassemia
Structural hemoglobinopathies
Spain
Molecular diagnostics
Resumen
Fundamento y objetivo

Se describe una nueva mutación en el gen δ-globina (delta-talasemia), responsable de una disminución de los valores de hemoglobina (Hb) A2 y asociada a Hb Watts, variante de Hb debido a una deleción de trinucleótidos.

Pacientes y método

El análisis de Hb se llevó a cabo mediante high performance liquid chromatography (HPLC, «cromatografía líquida de alta resolución») de intercambio iónico y electroforesis capilar de zona. Se utilizaron técnicas de reacción en cadena de la polimerasa y secuenciación automática para identificar las mutaciones en los genes δ- y α-globina.

Resultados

La Hb anómala se observó en la electroforesis capilar de zona en Z6 y por HPLC de intercambio iónico apareció un pico más lento que la HbA en un tiempo de retención de 4,19min. Esta variante de la Hb se llama Hb Watts [α2 74(EF3)Asp->0 o α2 75(EF4)Asp->0; HBA2:c.226_228delGAC]. El bajo porcentaje de HbA2 se debe a una inserción de 27nt entre los nucleótidos 83 y 84 de IVS-I del gen de δ-globina.

Conclusiones

Cuando se analiza un cromatograma se debe tener en cuenta la posibilidad de una delta-talasemia o una variante de HbA2, aparte de una alfa-talasemia, beta-talasemia y hemoglobinopatías estructurales. A tal fin, cada uno de los picos y sus porcentajes deben ser considerados para una correcta interpretación y evitar diagnósticos erróneos tanto como sea posible.

Palabras clave:
Delta-talasemia
Hemoglobinopatías estructurales
España
Diagnósticos moleculares

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.2023.10.015
No mostrar más