Iron Metabolism Disorders

Question 1

What three ways can iron be manhandled?

Answer 1

Iron deficiency
Iron malutilisation
Iron overload

Question 2

What can cause iron deficiency?

Answer 2

Insufficient intake

Blood loss

Question 3

What can cause an insufficient iron intake?

Answer 3

Diet

Malabsorption- Coeliac’s disease

Question 4

Where can blood be lost from?

Answer 4

Bleeding
Menorrhagia
Gastrointestinal- Tumours, Ulcers, NSAIDs, Parasites
Haematuria

Question 5

What are the symptoms of iron deficiency?

Answer 5

Epithelial changes
-Skin
-Koilonychia
-Brittle nails
-Angular stomatitis
-Brittle hair
Hypochromic microcytic anaemias 
Dysphagia and glottitis

Question 6

What are some epithelial changes seen in iron deficiency?

Answer 6

• Dry skin
• Koilonychia
• Brittle nails
• Angular stomatitis
• Brittle hair

Question 7

How do you confirm iron deficiency?

Answer 7

Combination of anaemia (decreased functional iron) and decreased iron stores (low serum ferritin)

Question 8

How do you diagnose iron deficiency?

Answer 8

Blood count and film

Decreased serum ferritin

Question 9

What is seen in blood count and film in iron deficiency?

Answer 9

Microcytic hypochromatic cells
Misshapen cells
Condocytes (target cells)

Question 10

What causes iron malutilisation?

Answer 10

Anaemia of chronic disease- inflammation increases ferritin and hepcidin synthesis (blocks iron release).

Question 11

Describe iron malutilisation

Answer 11

Increases iron stores and decreases functional iron. Occurs to reduce supply of iron to pathogens.

Question 12

What are the two forms of iron overload?

Answer 12

Primary

Secondary

Question 13

Describe primary iron overload/what causes it

Answer 13

Long term excessive iron absorption with excess being stored in tissues over macrophages.

Question 14

Give a primary iron overload condition

Answer 14

Hereditary haemochromatosis

Question 15

Describe hereditary haemochromatosis

Answer 15

Due to HFE gene mutations leading to decreased hepcidin resulting in increased iron absorption.

Question 16

What are the symptoms of hereditary haemochromatosis

Answer 16

Weakness/fatigue
Joint pains
Impotence
Arthritis
Cirrhosis
Diabetes
Cardiomyopathy
Presents in middle to late age
Iron >5g

Question 17

What serum ferritin levels characterise hereditary haemochromatosis?

Answer 17

> 300microg/l men

>200microg/l women

Question 18

How do you diagnose hereditary haemochromatosis?

Answer 18

Genetic testing- HFE gene mutations
Transferrin saturation >50%- sustained over multi visits
Increased iron stores
Liver biopsy

Question 19

How do you treat hereditary haemochromatosis?

Answer 19

Weekly venesection- remove 500ml blood. Aim to reduce iron stored.

Question 20

Who should be screened for hereditary haemochromatosis?

Answer 20

First degree relatives

Children

Question 21

Why should you screen for hereditary haemochromatosis?

Answer 21

As may be asymptomatic until end stage organ damage has occurred.

Question 22

What can cause secondary iron overload?

Answer 22

Transfusion

Iron loading anaemia

Question 23

What two forms iron loading anaemia are there?

Answer 23

Massive ineffective erythropoiesis
Refractory hypoplastic anaemias
Red cell aplasia
Myelodysplasia (MDS)

Question 24

Give some examples of missive ineffective erythropoiesis

Answer 24

Thalassaemia

Sideroblastic anaemias

Question 25

Give some examples of refractory hypoplastic anaemias

Answer 25

Red cell aplasia

Myelodysplasia (MDS)

Question 26

How do you treat secondary iron overload?

Answer 26

Iron chelating agents

Question 27

Give some examples of iron chelating agents

Answer 27

Desferrioxamine
Deferiprone
Deferasirox