Beta thalassemia syndromes are a group of hereditary disorders inherited as an autosomal recessive disorder. characterized by a genetic deficiency in the synthesis of beta-globin chains. In the homozygous state, beta thalassemia (ie, thalassemia major) causes severe, transfusion-dependent anemia. In the heterozygous state, the beta thalassemia trait (ie, thalassemia minor) causes mild to moderate microcytic anemia.. Signs and symptoms the spleen is often enlarged and frequently removed and gallstones. These complications are mostly found in thalassemia major and intermedia patients.Abdominal pain due to hypersplenism and splenic infarction and right-upper quadrant pain caused by gallstones are major clinical manifestations Individuals with beta thalassemia major usually present within the first two years of life with severe anemia, poor growth and skeletal abnormalities during infancy. Untreated thalassemia major eventually leads to death, usually by heart failure; Excess iron causes serious complications within the liver, heart and endocrine glands. Severe symptoms include liver cirrhosis, liver fibrosis . Heart failure, growth impairment, diabetes and osteoporosis are life-threatening contributors brought upon by TM. The main cardiac abnormalities seen to have resulted from thalassemia and iron overload include left ventricular systolic and diastolic dysfunction, pulmonary hypertension, valveulopathies, arrhythmias and pericarditis. ........Diagnosis.................tests include complete blood count; hemoglobin electrophoresis; serum transferrin, ferritin, Fe Binding Capacity; urine urobilin and urobilogen; peripheral blood smear; hematocrit; and serum bilirubin..........................................Treatment Major Affected children require regular lifelong blood transfusions. Bone marrow transplants can be curative for some children. Surgically removed spleen of a Thalassemic child. It is about 15 times larger than normal. Patients receive frequent blood transfusions that lead to or potentiate iron overload. Iron chelation treatment is necessary to prevent damage to internal organs. . Popular chelators include deferoxamine and deferiprone. Of the two, deferoxamine is preferred; it is more effective and is associated with fewer side-effects The most common patient deferoxamine complaint is that they are painful and inconvenient. The oral chelator deferasirox was approved for use in 2005 in some countries. It offers some hope with compliance at a higher cost. Bone marrow transplantation is the only cure and is indicated for patients with severe thalassemia major.
Posted on: Wed, 29 Oct 2014 08:48:27 +0000
Recently Viewed Topics
© 2015