Combination of a triple alpha-globin gene with beta-thalassemia in a gypsy family: importance of the genetic testing in the diagnosis and search for a donor for bone marrow transplantation for one of their children

BACKGROUND: The simultaneous presence of a heterozygous β-thalassemia with α-gene triplication may cause anything from a thalassemia trait to thalassemia intermedia of mild to moderate severity. CASE PRESENTATION: An 8-month-old ethnic Gypsy male infant with failure to thrive from birth, mild jaundi...

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Detalles Bibliográficos
Autores principales: Yus Cebrian, Flor, del Valle Recasens Flores, María, Izquierdo Álvarez, Silvia, Parra Salinas, Ingrid, Rodriguez-Vigil Iturrate, Carmen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4832447/
https://www.ncbi.nlm.nih.gov/pubmed/27080228
http://dx.doi.org/10.1186/s13104-016-2027-1

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