β-Thalassemia Intermedia Associated with Heterozygous and Isolate β-Globin Gene Mutation [IVS-II-1 (HBB: c.315G>A)].

doi:10.3109/03630269.2015.1062776

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Article

β-Thalassemia Intermedia Associated with Heterozygous and Isolate β-Globin Gene Mutation [IVS-II-1 (HBB: c.315G>A)].

Hemoglobin - 1 Jan 2015

Poddighe Dimitri, Roncoroni Layla, Comi Elena V, Bruni Paola

Abstract excerpt

A 4-year-old male child of Caucasian ethnicity was investigated for moderate hemolytic and non immune-mediated anemia. The presence of splenomegaly and the elevation of Hb A(2) and Hb F and the exclusion of a defect of protein of red blood cell (RBC) membranes defined a clinical picture of β-thal...

Topics

Child, Preschool
Erythrocyte Indices
Humans
Introns
Male
Mutation
Phenotype
beta-Globins
beta-Thalassemia

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