Question

A middle-aged female patient, with a history of diabetes, was seen for anorexia with weight loss and fatigue. As a part of her examination, the physician noted a bronze-coloring to her skin and an enlarged liver upon palpation. Her chemistry panel results are as follows:

albumin (3.8-5.0 g/dL)	3.7 g/dL
AST (14-50 U/L)	180 U/L
ALT (10-60 U/L)	200 U/L
Total Bilirubin (0.2-1.2 mg/dL)	2.5 mg/dL
Iron (45-150 μg/dL)	180 μg/dL

Noting that her iron level was elevated, the physician ordered further tests:

Transferrin (200-380 mg/dL)	210 mg/dL
Ferritin (10-250 μg/L)	300 μg/L
% Transferrin saturation (20-50)	80%

Genetic testing did confirm that the patient has an HFE3 gene mutation and was diagnosed with HH.

Questions:

1. Are these test results consistent with iron deficiency or toxicity?

2. Are these conditions this patient is dealing with typical of hemochromatosis?

3. What is a treatment plan for iron overload and what is the main goal of such treatment(s)?

Answer 1

1. The results are consistent with iron toxicity

-serum iron is 180 microgram/dl which is more than normal

-serum ferritin is 300 microgram/L which is also more than normal.

- transferrin saturation above 45% is siggestive of iron overload. here it is 80%

- Finally the genetic study shows HFE3 mutation with homozygous gene.

All this findings are indicating possibility haemochromatosis

2. Yes, each of symptoms are consistent with haemochromatosis

- Middle- age (more than 40 years) is the commonest time of presentation

- Patient have type 2 diabetes

- Anorexia, weight loss are features of liver disease. enlarged liver on palpation confirms the same

- Bronze pigmentation is due to excess melanin

( The condition is also called Bronzed diabetes)

3. Treatment

Goal of the treatment is to reduce iron in the body, thereby reducing the damage caused by iron deposition in organs.

aim: To keep ferritin level under 50 microgram/L and Haemoglobin level of 11

Rx:-

Venesection of 500 mL of blood(250mg iron) weekly

continue until serum iron is normal- usually take 2- 3 years.