AMDAMD

1) WHAT IS AMD (AGE-RELATED MACULAR DEGENERATION)? Age-related macular degeneration (AMD) is a hereditary ophthalmic pathology. AMD is a disease associated with aging that gradually destroys sharp, central vision (which allows seeing fine detail). AMD affects the macula, the part […]

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Beta -ThalassemiaThalassemia

I. Disease Thalassemias are a group of genetic disorders characterized by an abnormality in the synthesis of the globin chains, compounds of the hemoglobin (oxygen-transport protein). Hemoglobin (Hb) is normally composed by : 97 % Hb A (2 α chains […]

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Cystic Fibrosis

I. Disease Cystic fibrosis (CF) is the most common inherited fatal disease in Caucasians. It is a hereditary disease, with recessive autosomal transmission, due to an alteration in the CFTR protein, provoking an anomaly in the transportation trans-epithelial of chloride and […]

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Thrombophilia

I. Disease Thrombophilia or thromboembolic disease describes clinical situations where venous thromboses (early, recurrent or unusual location), are observed, associated to a biological test in hypercoagulability. II. Causes/risk This disease is a very frequent/common disease.Risk factors include: Acquired risk factors […]

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