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Transcript of Haemochromatosis
Genetic mutation resulting in excessive absorption Iron loading anemia, chronic liver disease
Iron input exceeds body requirements
Eg blood transfusion 30 Minutes
Special Haemochromatosis Interviewer Patient Epidemiologist Pathologist - normally 3g/day in women or 5g/day in men
- up to 20g/day if untreated
- Excess iron
- Inappropriate levels of iron absorption
- Iron deposits in organs: liver, pancreas, heart Haemochromatosis - Dietary regulator
- Erythropoeitic regulator
- Crypt cell programming
- Hepcidin/HFE model Hepcidin: Degrades ferroportin (iron transporter) Mutation in HFE!
False signal - "Iron is low"
- Less hepcidin Most common presenting symptoms - fatigue, weakness
Most common signs: "bronze diabetes" - i.e. diabetes mellitus, haemochromatosis, liver cirrhosis
Diagnosed after routine blood tests or via family screening between the ages of 30-60years old Complications Complications arise due to excess iron stores depositing in parenchymal cells of the organs and altering their normal function.
Liver - liver cirrhosis, hepatomegaly, liver cancer
Pancreas - pancreatitis, T2DM
Heart - congestive heart failure, arrhythmias (atrial fibrillaiton/flutter)
Impairs pituitary gland - hypogonadism (Loss of libido, impotence, testicular atrophy) Treatment: Definition of
iron overload - Iron regulatory gene mutation
- Autosomal recessive
Mutated gene needed from both parents Two main disease causing mutations
- C282Y (90% of those diagnosed)
- H63D (rarely causes full haemochromatosis) 40-70% of people with C282Y mutation develop symptoms Symptoms mostly develop post middle age Genetics Hereditary haemochromatosis Northern European Decent Secondary iron overload Iron regulation 10-12.5 per cent of carriers of C282Y mutation
Higher in Irish and Celtic populations Origin Northern Europe 60-70 years ago
Low iron diets 1-3% carriers of C282Y in the rest of Europe
HFE mutations negligible amongst other ethnicities In Australia Relatively large population of Northern European decent Secondary iron overload disorders Iron overload anaemias
Chronic transfusion therapy
African iron overload
Non-biliary causes of liver cirrhosis
Ineffective erythropoeisis Screening Result over-interpreted
Could lead to genetic discrimination
Coercion to have test done
Privacy and autonomy compromised Possible negatives Positives Beneficial for high-risk groups
Health, economic and social benefits Doctor Designed to find people with the mutation
Before symptoms and irreversible damage
Cost-effective to screen susceptible population
Better measure of true incidence of haemochromatosis Diagnosis 'Feeling tired' Alternate Treatment Chelation therapy:
Low venesection therapy tolerance
Secondary iron overload Iron overload is an excess absorption of iron, which can either be primary (hereditary) or secondary (e.g. blood transfusion)
Hereditary haemochromatosis is an autosomal recessive disorder due to a C282Y mutation.10-12.5% of Northern Europeans are carriers of the C282Y mutation. Men are more likely to develop symptoms than women, and symptoms usually present between 30-60 years of age.
Symptoms: fatigue/weakness, arthopathy. Features: cutaneous pigmentation, diabetes mellitus, cirrhosis (bronze diabetes)
Complications: at the liver (hepatomegaly, liver cirrhosis), at the pancreas (diabetes), heart (CHF, arrhythmias), other organs.
Iron is absorbed through the enterocytes in the duodenum. It can either then be stored as ferritin or released into plasma via ferroportin. The HFE/ β2/TfR1 complex and hepcidin regulates the dietary uptake of iron. Iron is transported around the body bound to a carrier glycoprotein, transferrin.
Hereditary haemochromatosis leads to a mutant HFE protein that impairs the TfR-mediated uptake of iron. This increased DMT1 production and therefore also iron absorption.
Diagnosis based on: Signs and symptoms, family history, and elevated serum transferring and ferritin.
Screening is advisable for: high-risk ethnic groups, those with family history or pre-disposing conditions. Screening and subsequent treatment reduces the risk of severe complications.
Venesection therapy removes excess iron stores from the body. Presentation Summary