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

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

Research output: Contribution to journalArticlepeer-review

Abstract

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 A2 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.

Original languageEnglish
Pages (from-to)366-367
Number of pages2
JournalHemoglobin
Volume39
Issue number5
DOIs
Publication statusPublished - Sep 3 2015
Externally publishedYes

Keywords

  • Anemia
  • genotype-phenotype
  • hemolysis
  • relationship
  • splenomegaly
  • β-thalassemia intermedia (β-TI)

ASJC Scopus subject areas

  • Hematology
  • Genetics(clinical)
  • Clinical Biochemistry
  • Biochemistry, medical

Fingerprint

Dive into the research topics of 'β-Thalassemia Intermedia Associated with Heterozygous and Isolate β-Globin Gene Mutation [IVS-II-1 (HBB: c.315G>A)]'. Together they form a unique fingerprint.

Cite this