[Thalassemia intermedia caused by interaction of IVS-1 1(G--A) mutation in the beta-globin gene and heterozygotic triplication in the alpha-globin gene].

Article

[Thalassemia intermedia caused by interaction of IVS-1 1(G--A) mutation in the beta-globin gene and heterozygotic triplication in the alpha-globin gene].

Revista clinica espanola - 1 Mar 1998

Martínez-López J, Galán García P, del Río E, Baiget M, Gilsanz Rodríguez F

Abstract excerpt

Thalassemia intermedia is a clinical entity characterized by moderate, non-transfusional anemia and hepatosplenomegaly. This phenotype can result from different genetic combinations and is sometimes present in patients with only one parent showing the thalasemia minor phenotype. We report here a...

Topics

Adolescent
Adult
Child
Female
Globins
Heterozygote
Humans
Male
Middle Aged
Mutation
Pedigree
Thalassemia

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