Maestría Académica en Microbiología
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Examinando Maestría Académica en Microbiología por Autor "Cordero Gómez, Carlos Alberto"
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Ítem Frecuencias de las mutaciones C282Y y H63D en el gen HFE asociado a la hemocromatosis hereditaria en familiares y pacientes con hemacromatosis, cirrosis criptogénica y diabetes tipo I que acuden a los servicios del Hospital San Juan de Dios, Costa Rica(2010) Cordero Gómez, Carlos Alberto; Salazar Sánchez, LizbethRecently a number of new genes involved in iron metabolism have been identified like participants in the molecular mechanisms of iron absorption, transport and reserve. The loss of regulation of iron absorption in the intestine is relates to the HFE gene mutation, this causes overload states in patients with classical hereditary hemochromatosis type l. C282Y homozygous mutation in the HFE gene is the most genetic disorder in patients with overload iron, represent 85% of hereditary hemochromatosis cases, causes damage organs and complications such as cirrhosis, diabetes and arthritis, among others. This study determined a frequency of 0.054 for C282Y homozygous mutation and a frequency of 0,027 for the mutation heterozygous H63D in patients diagnosed clinically with hereditary hemochromatosis, cryptogenic cirrhosis and type 1 diabetes mellitus from San Juan de Dios Hospital. Also could determine a frequency of 0,559 for the C282Y heterozygous mutation in relatives of patients who tested positive for mutations. The impact of this research is to make available health services a molecular laboratory test to help early diagnosis and appropriate for the type 1 hemochromatosis and be the first study on determined the presence of C282Y and H63D mutations in HFE gene in Costa Rica.