En fonction de la nature de la chaîne touchée, on parlera d’alpha (α), de bêta (β), de delta (δ) ou de gamma (γ)-thalassémie. Cependant, en pratique clinique. la β-thalassémie intermédiaire avec des besoins transfusionnels occasionnels sur un faible effectif de patients ayant une bêta-thalassémie intermédiaire ou. Many translated example sentences containing “bêta-thalassémie” – English- French dictionary and search engine for English translations.
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Orphanet: Beta thalassemie
Population migrations have lead to global distribution of the disease. Three main types of BT have been described minor, intermedia and major; see these terms.
Onset generally occurs from months of age. Long-term transfusion of red cell concentrates results in iron overload which hampers the vital prognosis mainly due to cardiac involvement and causes significant morbidity due tyalassemie endocrinal thalassemiee hepatic iron deposition. Patients with BTI may or may not require occasional transfusions.
Hypersplenism, cholelithiasis, extramedullary hematopoiesis, thrombotic complications and progressive iron overload are the main clinical features that may complicate the course of BTI. Rare autosomal dominant forms have also been described dominant beta-thalassemia; see this term.
In rare instances, BT trait is associated with trichothiodystrophy or X-linked thrombocytopenia see these terms. In BT-minor, the levels of HbA2 are increased and the levels Hb are usually normal to low with microcytosis and hypochromia. Genetic counseling is recommended to permit couples who are at risk an informed choice among available options including prenatal diagnosis.
There are two major treatment options for BT. Availability of new oral iron chelators and monitoring of cardiac iron overload by Thalaasemie result in further clinical improvement and current evaluation is ongoing to determine their impact on morbidity and mortality.
Indeferasirox, a once-daily orally administered tualassemie chelator, obtained EU marketing authorization as an Orphan drug for first-line treatment of BT-related iron overload.
The marketing authorization for deferiprone, another orally active iron chelator, particularly effective in removing heart iron, is restricted to cases in which treatment with deferoxamine fails or is contraindicated.
Recently, a first patient was successfully treated with gene therapy. Prognosis depends on the severity of the condition but is generally good, particularly if appropriate treatment is provided.
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InfancyChildhood ICD Clinical description Three main types thalasdemie BT have been described minor, intermedia and major; see these terms.
Management and treatment There are two major treatment options for BT. Prognosis Prognosis depends on the severity of the condition but is generally good, particularly if appropriate treatment is provided. Additional information Further information on this disease Classification s 4 Gene s 1 Clinical signs and symptoms Publications in PubMed Other website thlassemie 9.
Annales de Biologie Clinique
Health care resources for this disease Expert centres Diagnostic tests Patient organisations 46 Orphan drug s Specialised Social Services Eurordis directory. The thalasesmie contained in this web site are presented for information purposes only.
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.