Iron Overload

Question 1

What is the most widely used to test to determine iron overload?

Answer 1

Serum Ferritin

Question 2

What is the name of the toxic form of iron that occurs in severe transfusional iron overload?

Answer 2

Serum non-transferrin-bound (NTBI) iron.

Question 3

What is the best non-invasive guide to liver and cardiac iron?

Answer 3

Magnetic resonance imaging (MRI) using the T2* technique

Question 4

What diagnostic method is widely used to measure liver iron?

Answer 4

A commercial Ferriscan MRI technique

Question 5

Which diagnostic method can be used for serial screening in hepatocellular carcinoma in patients with known iron over- load?

Answer 5

Serum alpha fetoprotein and liver ultrasound

Question 6

What is Hereditary Haemochromatosis?

Answer 6

Hereditary or genetic haemochromatosis is a group of diseases in which there is from birth excessive absorption of iron from the gastrointestinal tract leading to iron overload of the parenchymal cells, dominantly of the liver

Question 7

True or False? In hereditary iron overload, the macrophages are also iron overloaded.

Answer 7

FALSE!! The macrophages are not iron overloaded in Hereditary Haemochromatosis

Question 8

What is the genetic mutation which causes Hereditary Haemochromatosis?

Answer 8

Most patients are homozygous for a missense mutation in the HFE gene, which leads to insertion of a tyrosine residue rather than cysteine in the mature protein (C282Y).

Question 9

What is the serum Ferritin levels in affected individuals with Hereditary Haemochromatosis?

Answer 9

Serum ferritin greater than 1000μg/L

Question 10

True or False? In Hereditary Haemochromatosis , A second mutation resulting in a histidine to aspartic acid substitution H63D is found with the C282Y mutation in approximately 5% of patients with genetic haemochromatosis.

Answer 10

TRUE!!

Question 11

Which metacarpophalangeals are commonly affected in Genetic Haemochromatosis?

Answer 11

The second and third metacarpophalangeals.

Question 12

What are the laboratory findings for Genetic Haemochromatosis?

Answer 12

• Increased Serum Ferritin
• Serum transferrin saturation and Ferritin
• Fatigue
• Loss of libido
• Arthralgias

Question 13

Fill ins the blanks. “ The diagnosis of Hereditary Haemochromatosis is diagnosed by __________.”

Answer 13

Testing for the HFE mutation

Question 14

What is the treatment for Hereditary Haemochromatosis?

Answer 14

Treatment is with regular venesection, initially at 1–2- week intervals, with each unit of blood removing 200–250 mg of iron.

Question 15

What is the treatment for Transfusional Iron overload?

Answer 15

Iron Chelation Therapy

Question 16

What are the oral drugs used for Iron Chelation Therapy?

Answer 16

Deferasirox and Deferiprone

Question 17

What is the parenterally iron chelation drug used for Chelation Therapy?

Answer 17

Deferoxamine

Question 18

What are the main side effects of Deferasirox ?

Answer 18

Skin rashes, Transient Liver enzyme changes & Rise in Serum creatinine

Question 19

Which iron chelation therapy drug is the Most effective in removing cardiac iron?

Answer 19

Deferiprone

Question 20

What are the side effects of Deferiprone?

Answer 20

Arthropathy, agranulocytosis (in about 1%), neutropenia, gastrointestinal disturbance and, rarely in patients with diabetes, zinc deficiency.