On Dec 31, , A.S. Ducloy-Bouthors and others published Thalassémie } Welke behandeling van een anemie bij ß-thalassemie minor heeft de voorkeur. thalassemie NAO, thalassemieën, anemie; thalassemie, hemoglobinopathie; met thalassemie, leptocytose; hereditair, thalassemie; aandoening hemoglobine, . Relatie van de determinant met ongezondheid Bloedarmoede (anemie) ( bijvoorbeeld sikkelcellen* en thalassemie*) en intoxicaties (bijvoorbeeld lood).
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Anémie Thalassémie by Siyobana Buzamlak on Prezi
There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia. Hemoglobin is a protein that carries oxygen to the body. Related links to external sites from Bing. Hematology and Oncology – Hemoglobinopathies Thalassemid. Thalassemias are inherited blood disorders.
Feeding problems, diarrhea, irritability, recurrent bouts of fever, and progressive enlargement of the abdomen caused by splenomegaly and hepatomegaly may occur.
Management should also include treatment ghalassemie iron overload-related complications growth deficiency, delayed puberty, hypogonadism, hypopara- and hypothyroidism, diabetes, and osteoporosis.
Patients who do not receive regular transfusions and iron chelation usually die before the 2nd or 3rd decade whereas survival is higher in regularly transfused and chelated patients. Other complications are hypersplenism, venous thrombosis and osteoporosis. Anemia results from this abnormal hemoglobin formation.
Orphanet: Beta tha
InfancyNeonatal ICD There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to xnmie and fatal anemia. In some severe cases, you may need a bone marrow transplant. Disease definition Beta-thalassemia BT major is a severe early-onset form of BT see this term characterized by severe anemia requiring regular red blood cell transfusions.
Preimplantation genetic diagnosis may be available for families in which the disease-causing mutations have been identified.
Detailed information Article for general public Svenska A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. Search other sites for ‘Thalassemia’. If you have one, your body makes fewer healthy red blood cells and less hemoglobin.
Management and treatment Treatment is based on lifelong transfusions yhalassemie correct anemia, suppress erythropoiesis, and inhibition of gastrointestinal iron absorption, which occurs in non-transfused patients due to increased, although ineffective, erythropoiesis. Definition CSP heterogeneous group of hereditary hemolytic anemias which have in common a decreased rate of synthesis of one or more hemoglobin polypeptide chains.
Additional information Further information on this disease Classification s 3 Gene s 1 Clinical signs and symptoms Other website s 0. Recently a first patient was successfully treated with gene therapy. The documents contained in this web site are presented for information purposes only.
Antenatal diagnosis Prenatal diagnosis is possible by amniocentesis. Thalassemias can be mild or severe. Please Contact Me as you run across problems with any of these anmis on the website. A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains.
Diagnostic methods Diagnosis is suspected in infants younger than 2 years of age with severe microcytic anemia, mild jaundice and hepatosplenomegaly.
Epidemiology Thalassemia accounts for one third of all globin abnormalities Gender: Definition MSH A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains.
That leads to anemia. Although access to this website is not restricted, the information found here is intended for use by medical providers. If you have mild symptoms or no symptoms, you may not need treatment. Blood analysis shows reduced Hb levels 50 12 Differential diagnosis Differential diagnosis is usually simple but may include genetic sideroblastic anemias, congenital dyserythropoietic anemias, and other conditions with high levels of HbF such as juvenile myelomonocytic leukemia and aplastic anemias; see these terms.
People with it may have severe anemia, slowed growth and delayed puberty, and problems with the spleen, liver, heart, or bones.
Some people have no symptoms or mild anemia. Clinical description Onset is during infancy with severe anemia, failure to thrive and progressive pallor.