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Beginning of the chapterIron metabolism and genetics
(Iron Sensor)
59
SENSORS
IRON SENSOR
Iron storage diseaseHemochromatosis
GENETICS
Iron storage disease and preventionIr
on in
the
bloo
dIr
on in
the
bloo
d
Age (years)Age (years)10 20 30 40 50 60 7010 20 30 40 50 60 70
Susceptibility to infection
Susceptibility to infectionJoint painsJoint pains
DiabetesDiabetes
Cirrhosis of the liver
Cirrhosis of the liver
Cirrhosis of the liver, Cirrhosis of the liver, diabetes, etc. diabetes, etc.
Genetic testGenetic testUp to 76% incorrect Up to 76% incorrect
diagnoses!!diagnoses!!
Blood letting therapyBlood letting therapy
Typical development for Typical development for MENMEN
GENETICSIr
on in
the
bloo
dIr
on in
the
bloo
d
Age (years)Age (years)10 20 30 40 50 60 7010 20 30 40 50 60 70
Susceptibility to infection
Susceptibility to infectionJoint painsJoint pains
DiabetesDiabetes
Cirrhosis of the liver
Cirrhosis of the liver
Genetic testGenetic test
Phlebotomy therapyPhlebotomy therapy
Genetic testGenetic test HealthyHealthyBlood donations 4-6 times/year Blood donations 4-6 times/year
Iron storage disease and prevention
Typical development in case of genetic PREVENTIONTypical development in case of genetic PREVENTION
INFANT MENOPAUSEMENSTRUATION
GENETICSIr
on in
the
bloo
dIr
on in
the
bloo
d
Age (years)Age (years)10 20 30 40 50 60 7010 20 30 40 50 60 70
Susceptibility to infection
Susceptibility to infectionJoint painsJoint pains
DiabetesDiabetes
Cirrhosis of the liver
Cirrhosis of the liver
Typical development for Typical development for WOMENWOMEN
Iron storage disease and prevention
IRON SENSOR
The three most common genetic variations
HFE geneHFE gene
C282YC282YS65CS65C
H63DH63D
IRON SENSOR
The three most common genetic variations
HFE geneHFE gene
C282YC282Y
Gene 1 of a personGene 1 of a person
HFE geneHFE gene
C282YC282Y
Gene 2 of a personGene 2 of a person
Homozygous Homozygous MutantMutant
Most of the disease cases are caused by Most of the disease cases are caused by this gene constellationthis gene constellation
Without treatment: approx. 50% probability of disease (men)Without treatment: approx. 50% probability of disease (men)Frequency: Approx. 1 out of 200 peopleFrequency: Approx. 1 out of 200 people
IRON SENSOR
The three most common genetic variations
HFE geneHFE gene
C282YC282Y
Gene 1 of a personGene 1 of a person
HFE geneHFE geneGene 2 of a personGene 2 of a person
HeterozygousHeterozygous
Up to 10% probability of increased iron levelsUp to 10% probability of increased iron levelsFrequency: Approx. 1 out of 10 peopleFrequency: Approx. 1 out of 10 people
IRON SENSOR
The three most common genetic variations
HFE geneHFE geneGene 1 of a personGene 1 of a person
HFE geneHFE geneGene 2 of a personGene 2 of a person
HeterozygousHeterozygous
Up to 10% probability of increased iron levelsUp to 10% probability of increased iron levelsFrequency: Approx. 1 out of 10 peopleFrequency: Approx. 1 out of 10 people
S65CS65C
IRON SENSOR
The three most common genetic variations
HFE geneHFE geneGene 1 of a personGene 1 of a person
HFE geneHFE geneGene 2 of a personGene 2 of a person
HeterozygousHeterozygous
Up to 10% probability of increased iron levelsUp to 10% probability of increased iron levelsFrequency: Approx. 1 out of 10 peopleFrequency: Approx. 1 out of 10 people
H63DH63D
IRON SENSOR
The three most common genetic variations
HFE geneHFE gene
H63DH63D
Gene 1 of a personGene 1 of a person
HFE geneHFE gene
C282YC282Y
Gene 2 of a personGene 2 of a person
CompoundCompoundHeterozygousHeterozygous
Disease probableDisease probableFrequency: Approx. 1 out of 200 peopleFrequency: Approx. 1 out of 200 people
IRON SENSOR
The genetics of hemochromatosis
IRON SENSOR
The genetics of hemochromatosis
IRON SENSOR
Counselling example
PREVENTIONPREVENTION Regularly measure the iron levelsRegularly measure the iron levels
Donate blood 5-6 times/yearDonate blood 5-6 times/year
Avoid/reduce the amount of alcoholAvoid/reduce the amount of alcohol
Avoid dietary supplements containing ironAvoid dietary supplements containing iron
End of the chapterIron metabolism and genetics
(Iron Sensor)
59
