1. Beginning of the chapter Iron metabolism and genetics (Iron Sensor) 59

2. SENSORS IRON SENSOR Iron storage disease Hemochromatosis

3. GENETICS Iron storage disease and prevention Iron in the blood Age (years) 10 20 30 40 50 60 70 Susceptibility to infection Joint pains Diabetes Cirrhosis of the liver Cirrhosis of the liver, diabetes, etc. Genetic test Up to 76% incorrect diagnoses!! Blood letting therapy Typical development for MEN

4. GENETICS Iron in the blood Age (years) 10 20 30 40 50 60 70 Susceptibility to infection Joint pains Diabetes Cirrhosis of the liver Genetic test Phlebotomy therapy Genetic test Healthy Blood donations 4-6 times/year Iron storage disease and prevention Typical development in case of genetic PREVENTION

5. INFANTMENOPAUSEMENSTRUATION GENETICS Iron in the blood Age (years) 10 20 30 40 50 60 70 Susceptibility to infection Joint pains Diabetes Cirrhosis of the liver Typical development for WOMEN Iron storage disease and prevention

6. IRON SENSOR The three most common genetic variations HFE gene C282YS65C H63D

7. IRON SENSOR The three most common genetic variations HFE gene C282Y Gene 1 of a person HFE gene C282Y Gene 2 of a person Homozygous Mutant Most of the disease cases are caused by this gene constellation Without treatment: approx. 50% probability of disease (men) Frequency: Approx. 1 out of 200 people

8. IRON SENSOR The three most common genetic variations HFE gene C282Y Gene 1 of a person HFE gene Gene 2 of a person Heterozygous Up to 10% probability of increased iron levels Frequency: Approx. 1 out of 10 people

9. IRON SENSOR The three most common genetic variations HFE gene Gene 1 of a person HFE gene Gene 2 of a person Heterozygous Up to 10% probability of increased iron levels Frequency: Approx. 1 out of 10 people S65C

10. IRON SENSOR The three most common genetic variations HFE gene Gene 1 of a person HFE gene Gene 2 of a person Heterozygous Up to 10% probability of increased iron levels Frequency: Approx. 1 out of 10 people H63D

11. IRON SENSOR The three most common genetic variations HFE gene H63D Gene 1 of a person HFE gene C282Y Gene 2 of a person CompoundHeterozygous Disease probable Frequency: Approx. 1 out of 200 people

12. IRON SENSOR The genetics of hemochromatosis

13. IRON SENSOR The genetics of hemochromatosis

14. IRON SENSOR Counselling example PREVENTION Regularly measure the iron levels Regularly measure the iron levels Donate blood 5-6 times/year Donate blood 5-6 times/year Avoid/reduce the amount of alcohol Avoid/reduce the amount of alcohol Avoid dietary supplements containing iron Avoid dietary supplements containing iron

15. End of the chapter Iron metabolism and genetics (Iron Sensor) 59