Article
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.
BMC research notes - 14 Apr 2016
Yus Cebrian Flor, Recasens Flores María del Valle, Izquierdo Álvarez Silvia, Parra Salinas Ingrid, Rodriguez-Vigil Iturrate Carmen
Abstract excerpt
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 jaundice and splenomegaly. Clinical signs were compatible with severe microcytic anemia requiring bi-monthly blood...
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