Atransferrinaemia (Q86828): Difference between revisions
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Revision as of 12:23, 15 August 2026
Congenital atransferrinaemia is a constitutional anaemia due to abnormal synthesis of transferrin, a plasma protein that transports iron through the blood. Severe microcytic hypochromic anaemia, growth retardation and recurrent infections are the first clinical signs of the disease. Iron overload occurs mainly in the liver, heart, pancreas, thyroid, kidney and bone joints, leading to mild to severe symptoms of liver and heart failure, arthropathy and hypothyroidism.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1897167257 |
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| English | Atransferrinaemia |
Congenital atransferrinaemia is a constitutional anaemia due to abnormal synthesis of transferrin, a plasma protein that transports iron through the blood. Severe microcytic hypochromic anaemia, growth retardation and recurrent infections are the first clinical signs of the disease. Iron overload occurs mainly in the liver, heart, pancreas, thyroid, kidney and bone joints, leading to mild to severe symptoms of liver and heart failure, arthropathy and hypothyroidism. |
