publication . Conference object . 2012

Prevalence of alpha-1 antitrypsin deficiency and hereditary hemochromatosis gene mutations in Algarve, Portugal

Barreto da Silva, Marta; Gaio, Vânia; Fernandes, Aida; Mendonça, Francisco; Horta Correia, Filomena; Beleza, Álvaro; Gil, Ana Paula; Bourbon, Mafalda; Vicente, A.M.; Dias, Carlos Matias;
Open Access English
  • Published: 01 Oct 2012
  • Publisher: Instituto Nacional de Saúde Doutor Ricardo Jorge, IP
  • Country: Portugal
Abstract
Alpha-1 antitrypsin (AAT) deficiency and hereditary hemochromatosis (HH) are two of the most fatal genetic disorders in adult life, affecting million individuals worldwide. They are often under-diagnosed conditions and diagnosis is only made when the patient is already in the advanced stages of damage. AAT deficiency results from mutations in one highly pleiomorphic gene located on chromosome 14, SERPINA 1, being Z and S mutations the most relevant clinically. These mutations will lead to an AAT deficit that compromises the lungs protection, originating emphysema, chronic bronchitis, asthma or even chronic obstructive pulmonary disease (COPD) and it is also stro...
Subjects
free text keywords: Alpha-1 Antitrypsin Deficiency, Hereditary Hemochromatosis, Public Health Genetics, Gene Variants, Determinantes da Saúde e da Doença, Doenças Cardio e Cérebro-vasculares
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