Thalassemia intermedia

Research output: Contribution to journalArticle

129 Citations (Scopus)

Abstract

Thalassemia intermedia is a clinical definition applied to patients whose clinical phenotype is milder than that of thalassemia major. Criteria used to define thalassemia intermedia including age at presentation, hemoglobin or fetal hemoglobin levels and transfusion independence, are unsatisfactory. The possibility of typing the molecular defect allows a retrospective analysis of patients and offers a new tool for the diagnosis of thalassemia intermedia. Nevertheless, because of several factors that interact in the disease expression, the β-genotype alone is not predictive of the phenotype in all cases. Although benign, the clinical course of thalassemia intermedia is characterized by several complications that can be prevented by an accurate follow-up. The conventional treatment of thalassemia intermedia remains controversial; it is hoped that recent advances in the pharmacological manipulation of hemoglobin switching will offer a therapeutic option in the future, at least to selected patients.

Original languageEnglish
Pages (from-to)58-68
Number of pages11
JournalHaematologica
Volume80
Issue number1
Publication statusPublished - 1995

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beta-Thalassemia
Hemoglobins
Intrauterine Blood Transfusion
Phenotype
Molecular Typing
Fetal Hemoglobin
Genotype
Pharmacology
Therapeutics

Keywords

  • thalassemia intermedia

ASJC Scopus subject areas

  • Hematology

Cite this

Thalassemia intermedia. / Camaschella, C.; Cappellini, M. D.

In: Haematologica, Vol. 80, No. 1, 1995, p. 58-68.

Research output: Contribution to journalArticle

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