| English |
| beta-thalassemia intermedia |
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|
| Attestation |
3
|
| Part of speech |
Noun syntagm
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| Grammatical label |
Countable
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| Variant |
Beta-thalassemia minor, b-thalassemia intermedia, b thalassemia intermedia, beta thalassemia intermedia
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| Definition |
Patients who are diagnosed with b -thalassemia Intermedia have a homozygous or heterozygous beta globin mutation that causes a decrease in beta chain production, but not to the degree that chronic transfusion therapy is required. The phenotype can also occur in children who have a mutation that increases production of c-globin, in children who have co-inherited alpha thalassemia and beta thalassemia, and in other rarer mutations. Patients who have thalassemia intermedia are able to maintain a hemoglobin of 7 gm/dl or slightly higher with a greatly expanded erythron and may manifest bony deformities, pathologic fractures and growth retardation. Children who have thalassemia intermedia can also have delayed pubescence, exercise intolerance, leg ulcers, inflammatory arthritis and extramedullary hematopoiesis causing spinal cord compression, a medical emergency requiring radiation therapy and transfusion. Patients can also have iron overload due to increased absorption of iron from the gastrointestinal tract and intermittent transfusion. They are at risk for the cardiac and endocrine complications of hemosiderosis, but usually at an older age than chronically transfused children. Chelation therapy is indicated for increasing ferritin and elevated liver iron.
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| Definition source |
Children’s Hospital Oakland. Medical Management. Definition of Thalassemia.
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| Context |
b-thalassemia intermedia is characterized by a milder phenotype with hemoglobin levels between 7-9 g/dL; patients with this phenotype usually do not require blood transfusions. Inefficient erythropoiesis persists in non-transfused or occasionally transfused patients with b-thalassemia intermedia and therefore there can be spleen enlargement. Moreover, in b-thalassemia intermedia iron absorption increases in the gut because of anemia and therefore accumulates.
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| Context source |
Piatti, G., et al. (1999). ‘Beta-thalassemia and pulmonary function’. Haematologica 84(9):804-8. (RISCEN40)
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| Figure source |
http://www.emedicine.com/
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| Subject field |
Haemopoiesis
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| Sub-field (level 1) |
Thalassemias
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| Generic concept |
Beta-thalassemias, b+-thalassemia, homozigous beta-thalassemia associated to alpha-thalassemias, double heterozygosity for mild beta-thalassemic genes, b0/b0 homozygosity associated to an increase in a chain synthesis
|
| Coordinate concept |
Beta-thalassemia major, beta-thalassemia minor
|
| it |
Beta-talassemia intermedia
|
| Reliability code |
3
|
