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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Search Bing for all related images. In some severe cases, you may need a bone marrow transplant.
Transmission is autosomal recessive. Tjalassemie Cluster of Autosomal Recessive hematologic disorders affecting Hemoglobin Globin chain abnormalities result in unbalanced red cells that are susceptible to Hemolysis.
Doctors diagnose thalassemias using blood tests. Feeding problems, diarrhea, irritability, recurrent bouts of fever, and progressive enlargement of the abdomen caused by splenomegaly and hepatomegaly may occur.
The most common severe type in the United States is called Cooley’s anemia. Treatments include blood transfusions and treatment to remove excess iron from the body. Treatment is based on lifelong transfusions to correct anemia, suppress erythropoiesis, and inhibition of gastrointestinal iron absorption, which occurs in non-transfused patients due to increased, although ineffective, erythropoiesis. People with it may have severe anemia, slowed growth and delayed puberty, and problems with the spleen, liver, heart, or bones.
Diagnostic methods Diagnosis is suspected in infants younger than 2 years of age with thalaassemie microcytic anmue, mild jaundice and hepatosplenomegaly. Some people have no symptoms or mild anemia. Another, mobile version is also available which should function on both newer and thalasdemie web browsers. Health care resources for this disease Expert centres Diagnostic tests Patient organisations 46 Orphan drug s Although access to this website is not restricted, the information found here is intended for use by medical providers.
Definition MSH A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more thalassdmie polypeptide chains. National Heart, Lung, and Blood Institute.
Diagnosis is suspected in infants younger than 2 years of age with severe microcytic anemia, mild jaundice and hepatosplenomegaly. If you have one, your body makes fewer healthy red blood cells and less hemoglobin.
The most common severe type in the United States is called Cooley’s anemia. InfancyNeonatal ICD Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.
Males and females affected equally Prevalence of Thalassemia World wide: Summary and related texts. If you have mild symptoms or no symptoms, you may not need treatment. Background Thalassemia is derived from Greek word “thalassa” for sea. Hematology and Oncology – Hemoglobinopathies Pages.
Detailed information Article for general public Svenska Both disease-causing alleles must be identified before prenatal testing can be performed. Untreated or poorly transfused patients show growth retardation, pallor, jaundice, poor musculature, genu valgum, leg ulcers, formation of masses due to extramedullary hematopoiesis, and skeletal changes including deformities in the long bones of the legs and typical craniofacial changes such as bossing of the skull, prominent malar eminence, depression of the bridge of the nose, tendency to a mongoloid slant of the eye, and maxillae hypertrophy, which tends to expose upper teeth.
Clinical description Onset is during infancy with severe anemia, failure to thrive and progressive pallor. Anemia results from this abnormal hemoglobin formation.
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Blood analysis shows reduced Hb levels 50 12 Differential diagnosis Differential anmiie 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.
Specialised Social Services Eurordis directory. Some people have no symptoms or mild anemia. Thalassemias are inherited blood disorders.
Pharmacology Chapter related topics Hydroxyurea. An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Thalassemias can be mild or severe. Prenatal diagnosis is possible by amniocentesis. Other complications are hypersplenism, venous thrombosis and osteoporosis. For all other comments, please send your remarks via thalaxsemie us. The documents contained in this web site are presented for information purposes only.
BT is caused by point mutations or, more rarely, deletions in the HBB amie 11p Genetic counseling Transmission is autosomal recessive.
Content is updated monthly with systematic literature reviews and conferences. References Muncie Am Fam Physician 80 4: An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin.
There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia. Patients should address specific medical concerns with their physicians. Page Contents Page Contents