Medicina: Ematologia: Talassemie e trapianto del midollo osseo
| English |
| beta-thalassemia major |
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| Attestation |
3
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| Part of speech |
Noun syntagm
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| Grammatical label |
Countable
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| Definition |
b-thalassemia major is a transfusion-dependent, inherited, chronic anemia caused by deficient production of b-globin chains that combine to form hemoglobin; consequently, free a-chains precipitate within red blood cells and most erythroid cells die in the bone marrow. Reduced hemoglobin synthesis, ineffective erythropoiesis and short erythrocyte survival in patients with b-thalassemia major lead to severe anemia and tissue hypoxemia which can, however, be partially corrected by regular transfusions aimed at mantaining the mean Hb level around 11-12 g/dL. In b-thalassemia major transfusion treatment increases the iron load thereby determining hemosiderosis in major organs such as the heart, liver and endocrine glands. Iron chelation with desferrioxamine (DFO) has become standard therapy to reduce these complications in patients with thalassemia major. Since patients´ survival has greatly improved over the last 10 years, multi-organ impairment due to hemosiderosis often occurs. The lungs may also be involved.
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| Definition source |
Piatti, G., et al. (1999). ‘Beta-thalassemia and pulmonary function’. Haematologica 84(9):804-8. (RISCEN40)
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| Context |
The most severe form of this disease is b-thalassemia major, which becomes manifest several months after birth, when the fetal to adult hemoglobin switch is complete.
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| Context source |
Sadiq, MF., et al. (2001). ‘Spectrum of beta-thalassemia in Jordan: identification of two novel mutations’. American Journal of Hematology 68(1):16-22. (RISCEN163)
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| Figure source |
http://www.emedicine.com/
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| Synonym |
Cooley´s anemia, Beta-microcythemia major, homozygous beta-microcythemia, homozygous beta-thalassemia
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| Subject field |
Haemopoiesis
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| Sub-field (level 1) |
Thalassemias
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| Generic concept |
Beta-thalassemias, homozygosity b0/b0, double heterozygosity b0/b+, homozygosity b+/b +
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| Coordinate concept |
Beta-thalassemia intermedia, beta-thalassemia minor
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| it |
Beta-talassemia maior
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| Reliability code |
3
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