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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beta thalassemie – FMDT SOS Globi
Access thlassemie the full text of this article requires a subscription. Detailed information Article for general public Deutsch In rare instances, BT trait is associated with trichothiodystrophy or X-linked thrombocytopenia see these terms.
Indeferasirox, a once-daily orally administered tha,assemie chelator, obtained EU marketing authorization as an Orphan drug for first-line treatment of BT-related iron overload.
Health care resources for this disease Expert centres Diagnostic tests Patient organisations 46 Orphan drug s Check this box if you wish to receive a copy of your message. Contact Help Who are we? Access a collection of Canadian resources on all aspects of English and French, including quizzes. Additional information Further information on this disease Classification s 2 Gene s 1 Bega website s 0.
The material is in no way intended to replace professional medical care by a qualified specialist and should not be beeta as a basis for diagnosis or treatment. Summary and related texts. Long-term transfusion thalaswemie red cell concentrates results in iron overload which hampers the vital prognosis mainly due to cardiac involvement and causes significant morbidity due to endocrinal and hepatic iron deposition.
An Orphanet summary for this disease is currently under development. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Recently, a first patient was successfully treated with gene therapy.
Bêta-thalassémie majeure et grossesse. À propos de deux cas – EM|consulte
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. Rare autosomal dominant forms have also been described dominant beta-thalassemia; see this term. Only comments written in English can be processed. However, other data related to the disease are accessible from the Additional Information menu located at the bottom of this page.
Glossaries and vocabularies Access Translation Bureau glossaries and vocabularies. Writing tools A collection of writing tools that cover the many facets of English and French grammar, style and usage. If you want to subscribe to this journal, see our rates You can purchase this item in Pay Per View: The other two chains are also identical to one another but differ from the alpha chains and are termed the beta chains.
When these abnormalities affect the parts of haemoglobin called the beta chains, the disease is called beta thalassaemia. Access to the text HTML. Only comments written in English can be processed. The documents contained in this web site are presented for information purposes only.
In which subject field? Thalassaemia is caused by abnormalities in the genes units of heredity that control production of haemoglobin.
Annales de Biologie Clinique
There are two major treatment options for BT. FAQ Frequently asked questions Display options. Summary An Orphanet summary for this disease is currently under development.
Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Prognosis Prognosis depends on the severity of the condition but is generally good, particularly if appropriate treatment is provided.
Hypersplenism, cholelithiasis, extramedullary hematopoiesis, thrombotic complications and progressive iron overload are the main clinical features that may complicate the course of BTI. Other search option s Alphabetical list. InfancyChildhood ICD You may thus request that your data, should it be inaccurate, incomplete, unclear, outdated, not be used or stored, be corrected, clarified, updated or deleted. Additional information Further information on this disease Classification s 4 Gene s 1 Clinical signs and symptoms Publications in PubMed Other website s 9.
Homozygous beta-thalassemia is a severe, transfusion dependent anaemia that also causes infertility. The documents contained in this web site are presented for information purposes only. Other search option s Alphabetical list. Clinical description Three main types of BT have been described minor, intermedia and major; 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. Top of the page – Article Outline. Availability of new oral iron chelators and monitoring of cardiac iron overload by MRI result in further clinical improvement and current evaluation is ongoing to determine their impact on morbidity and mortality.
Very few pregnancies are reported among such patients. For all other comments, please send your remarks via contact us. Two of these chains are identical and are designated the alpha chains.
Preimplantation genetic diagnosis is possible. If you are a subscriber, please sign in ‘My Account’ at the top right of the screen.
Onset generally occurs from months of age. Specialised Social Services Eurordis directory. Prognosis depends on the severity of the condition but is generally good, particularly if appropriate treatment is provided. Language Portal thalaassemie Canada Access a collection of Canadian resources on all aspects of English and French, including quizzes.
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