Haemochromatosis in Norway Tanya Dholoo Karoline Lind Mjanger

Definition: he·mo·chro·ma·to·sis : “a hereditary disorder of metabolism involving the deposition of iron- containing pigments in the tissues that is characterized especially by joint or abdominal pain, weakness, and fatigue and that may lead to bronzing of the skin, arthritis, diabetes, cirrhosis, or heart disease if untreated”  Iron overload Primary Mutation (gene HFE, chromosome 6) Recessive genes: test family members Secondary No mutation (something wrong in erythropoiesis? Diet?)

First, why is iron necessary? Hemoglobin – bind to oxygen Enzymes We have no mechanism for the synthesis of iron, so all our iron must come from our diets. Removal: sweat, dead skin cells, urine, bleeding, menstruation. Iron overload = HAEMOCHROMATOSIS

Frequency 11.6% of the population in Norway. NB: Mutation or primary haemochromotosis is the most typical reason for this disorder. There are various different point-mutations on chromosome 6 (HFE-gene)! It is common in many parts of Northern Europe and virtually unheard of in Africa and Asia.

Causes Hypothesis 1: Vikings from the west coast of Norway – diet poor in iron so to protect against deficiency, MUTATION AROSE. Therefore primarily found in Caucasians. Why we still have it today? 1975 – realising the mutation 1996 – DNA testing introduced Pathological accumulation of iron over 40 years = g

Symptoms Symptoms differ due to age and gender, some can even be asymptomatic: Slower progress in women due to mensuration In Norway, out of people with “symptoms”, only 1% had this disease (Nord- Trøndelag) With early detection vague symptoms include: Joint paint Erectile dysfunction in men Loss of libido Accumulation of the iron in larger amounts causes: Liver failure Memory loss Failure of endocrine organs Failure in cardiac muscle Bronze skin colour and testicles

Diagnosis and Treatment To diagnose a blood test is used– however this may not be sufficient: Measuring ferritin (normal ng/mL) DNA test required for primary heamochromatosis Change diet Treatment normally entails a method known as blood letting: ml possibly every week

Sources 368/ 368/ - Norweigan Doctors Society

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