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

Dimitri Poddighe1, Layla Roncoroni, Elena V Comi

  • 1a Department of Pediatrics , Azienda Ospedaliera di Melegnano , Milan , Italy.

Hemoglobin
|July 22, 2015
PubMed

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-thalassemia intermedia (β-TI). The molecular analysis showed a heterozygous IVS-II-1 (HBB: c.315G > A) mutation on the β-globin gene, in the absence of extra α-globin genes or unstable hemoglobin (Hb) chains.

Keywords:
Anemiagenotype-phenotypehemolysisrelationshipsplenomegalyβ-thalassemia intermedia (β-TI)

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