Hereditary hemochromatosis type I: apropos of four confirmed cases

Revista Cubana de Hematología, Inmunología y Hemoterapia

Lavaut-Sánchez, Kalia¹  Valledor-Tristá, Roberto³  Cervera García, Ismael²  Fernández-Delgado, Norma D¹  Forrellat Barrios, Mariela¹ 

[1] Instituto de Hematología e Inmunología, La Habana, Cuba;Centro Nacional de Genética Médica, La Habana, Cuba;Hospital General Docente Enrique Cabrera, La Habana, Cuba

关键词: hereditary hemochromatosis;    HFE;    C282Y mutation;    iron overload;   

DOI  :  

学科分类：生理学与病理学

来源: SciELO

【 摘 要 】

Hereditary hemochromatosis is a genetic disorder. Detailed studies on its physiopathology and diagnosis have been carried out over the last years. The syndromes are characterized by iron overload and several subtypes are distinguished according to the existing mutation. Among them, the mutations in HFE gene or hereditary hemochromatosis type I is the most common. This disease has a great morbidity and mortality associated to mineral overload. For the first time in Cuba, we report four patients with confirmed mutations in HFE genes.

【 授权许可】

Unknown