Atransferrinaemia (Q86828): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
A atransferrinemia congênita é uma anemia constitucional devido à síntese anormal de transferrina, uma proteína plasmática que transporta o ferro pelo sangue. Anemia microcítica hipocrômica grave, retardo de crescimento e infecções recorrentes são os primeiros sinais clínicos da doença. A sobrecarga de ferro ocorre principalmente no fígado, coração, pâncreas, tireóide, rins e articulações ósseas, levando a sintomas leves a graves de insuficiência hepática e cardíaca, artropatia e hipotireoidismo. | |||
| description / en | description / en | ||
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. | |||
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 |
|---|---|---|---|
| default for all languages | ID_1897167257 |
||
| 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. |
