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
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. The other two chains are also identical to one another but differ from the alpha chains and are termed the beta chains. Health care resources for this disease Expert centres Diagnostic tests Patient organisations thakassemie Orphan drug s The documents contained in this web site are presented for information purposes only.
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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 to endocrinal and hepatic iron deposition. For all other comments, please send your remarks via contact us.
Health care resources for this disease Expert centres Diagnostic tests 83 Patient organisations 36 Orphan drug s 1. All hemoglobin consists of two parts: You may thus request that your data, should it be inaccurate, incomplete, unclear, outdated, not be used or stored, be corrected, clarified, updated or deleted.
Glossaries and vocabularies Access Translation Bureau glossaries and vocabularies. Onset generally occurs from months of age.
Bêta-thalassémie majeure et grossesse. À propos de deux cas – EM|consulte
Summary An Orphanet summary for this disease is currently under development. Hypersplenism, cholelithiasis, extramedullary hematopoiesis, thrombotic complications and progressive iron overload are the main clinical features that may complicate the course of BTI. Top of the page – Article Outline. In BT-minor, the levels of HbA2 are increased and the levels Hb are usually normal to low with microcytosis and hypochromia. Very few pregnancies are reported among such patients.
Annales de Biologie Clinique
Prognosis Prognosis depends on the severity of the condition but is generally good, particularly if appropriate treatment is provided.
There are thalaszemie major treatment options for BT.
InfancyChildhood ICD They have a very high thalaesemie risk and a pluridiscplinary follow is necessary. Management and treatment There are two major treatment options for BT. Two of these chains are identical and are designated the alpha chains.
The marketing authorization for deferiprone, another orally active iron chelator, particularly effective in removing heart iron, is restricted to cases in thalaseemie treatment with deferoxamine fails or is contraindicated. Language Portal of Canada Access a collection of Canadian resources on all aspects of English and French, including quizzes. Recently, a first patient was successfully treated with gene therapy. In rare instances, BT trait is associated with trichothiodystrophy or X-linked thrombocytopenia see these terms.
Journal page Archives Contents list. Access to the PDF text. A collection of writing tools that cover the many facets of English and French grammar, style and usage. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Detailed information Article for general public Deutsch Thalassaemia is caused by abnormalities in the genes units of heredity that control production of haemoglobin.
Outline Masquer le plan. You can move this window by clicking on the headline. Check this box if you wish to receive a copy of your message. Indeferasirox, a once-daily orally administered iron chelator, obtained EU marketing authorization as an Orphan drug for first-line treatment of BT-related iron overload.
As per the Law relating to information storage and personal integrity, you have the right to oppose art 26 of that lawaccess art 34 of that law and rectify art 36 of that law your personal data. Additional information Tyalassemie information on this disease Classification s 4 Gene s 1 Clinical signs and symptoms Publications in PubMed Other website s 9. The globin part of Hb [hemoglobin] A has 4 protein sections called polypeptide chains.
Three main types of BT have been described minor, intermedia and major; see these terms. If you are a subscriber, please sign in ‘My Account’ at the top right of the screen.
For all other comments, please send your remarks via contact us. Population migrations have lead to global distribution of the disease. FAQ Frequently asked questions Display options. Specialised Social Services Eurordis directory.
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.
Check this box if you wish to receive a copy of your message. Preimplantation genetic diagnosis is possible. An Orphanet summary for this disease is currently under development. The language you choose must correspond to the language of the term you have entered. Personal information regarding our website’s visitors, including their identity, is confidential.
Clinical description Three main types of BT have been described minor, intermedia and major; see these terms. Other search option s Alphabetical list. Access a collection of Canadian resources on all aspects of English and French, including quizzes.