Haemachromatosis Flashcards

1
Q

Why would free iron exist in the body?

A

If it exceeds binding capacity of transferrin in blood

exists as free iron

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2
Q

Why is free iron in the body dangerous?

A

Produces free radicals

  • hydroxyl
  • lipid
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3
Q

What happens to the free iron in the body?

A

Deposits in tissues as haemosiderin

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4
Q

What is haemachromatosis?

A

Excess iron
deposits in tissues
giving end organ damage

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5
Q

Where does free iron deposit? What are the effects?

A

Heart - cardiomyopathy

Liver - cirrhosis

Pancreas - diabetes mellitus

Gonads - hypogonadism

Joints - arthropy

Skin - pigmentation

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6
Q

What are the types of haemachromatosis?

A

Hereditary

Transfusion-associated

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7
Q

How is hereditary haemachromatosis inherited?

A

Autosomal recessive pattern

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8
Q

Which gene is affected in hereditary haemachromatosis?

A

HFE gene

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9
Q

How is the HFE protein affected in hereditary haemachromatosis?

A

Dysfunctional

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10
Q

What does the normal HFE protein do?

A

Competes with iron-transferrin
for transferrin receptor
so less iron-transferrin binds
reducing iron uptake by cell

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11
Q

How does the dysfunctional HFE protein cause excess iron?

A

Can’t bind to transferrin rceptor
so more iron-transferrin binds
more iron taken up by cell

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12
Q

How is hereditary haemachromatosis treated?

A

Venesection - removal of blood

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13
Q

What causes transfusion-associated haemachromatosis?

A

Regular transfusions

gives gradual accumulation of iron

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14
Q

How is transfusion-associated haemachromatosis controlled?

A

Using iron-chelating agents

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15
Q

What is an example of an iron-chelating agent?

A

Des ferri oxamine

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16
Q

What is the disadvantage of using an iron-chelating agent in terms of iron overload?

A

Doesn’t prevent iron overload

simply delays it

17
Q

What conditions require regular transfusions as part of treatment?

A

Thalassaemias

Myelodysplastic syndrome