Haemochromatosis Haeme- : ”Of Blood” Chromo- : ”in connection to genetics” Subject: Current Health Problems in Home Contries Background: -Connection to syllaby in Physiology -Connection to syllaby in Pathyphysiology -Personal Predisposition Charracteristics: • Disease connected to the Iron homeostasis • Caused by – 1. Genetic predisposition – 2. Anemia, Alcohol consumption • Primary symptoms: – Joint pain – Lack of energy – Abdominal pain • Secondary symptoms: – – – – Arthritis Liver disease Damage of Pancreas Many more • Distribution – One of the most common genetic diseases in the U.S. – 0,5% of Caucasion people of North Europen origin has the disease Iron Overload •Iron is taken up in the Small intestine al crypts the Enterocytes •During physiological function of the Iron Homestasis the Enterocytes have a way of monitoring the level of Iron in the blood •According to the Iron level, the uptake rate is regulated •In Heamochromatosis however, there is an error somewhere between the Enterocyte and the chemoreceptor sensing the Iron concentration in the blood Iron in human body •In Erythorcytes • Iron is an essential part of hemoglobin molecule •In Plasma •Iron is transported troughput the body connected to Transferrin •In Tissues •Iron is stored in various places in the body, in conjugation to the storage molucule Ferritin Iron in Patient with Hemocromatosis •Iron levels in the body are far above normal values •In case of values of Ferritin exceeding 300 ng/L, the condition is considered pathological and treatment are needed •When the Iron level are greatly increased the Iron is stored in the form of Hemosiderin •Most common places of hemosiderin depostis in case of Hemocromatosis •Liver •Pancreas •Boiny marrow •Myocardium •Can also been seen in •Lungs •Skin •Brain •Joints Liver in Hemocromatosis Hepatic tissue with Hemosiderin deposit Hemosiderin depositis Healthy liver Genetics Testing Treatment Sources and material
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