Haemochromatosis

​Understanding Haemochromatosis

By Lye Hui Ling (22471993)

Learning Objective

• Who is the Target Audience?

• What is the "Hidden Rust" in my body?

• Why is my body storing too much iron?

• Could my fatigue be more than just ageing?

• Do my children and siblings need to worry?

• How do we drain the excess iron safely?

A Quick Question

Open Ended

What do you think is Haemochromatosis?

Purpose and Target Audience

• Purpose:

  • Raise awareness about haemochromatosis

  • Promote early detection and prevention

• Key information:

  • Haemochromatosis occurs more commonly in men

  • Women are generally protected until menopause

    • Menstrual blood loss reduces iron levels, as iron is stored in red blood cells (RBCs)

The Body's Hidden Rust

• Haemochromatosis is a condition where your body is too good at absorbing iron from your food

• Your body has a faulty 'off switch', causing excess iron and cannot be secrete out

Basic Question

Multiple Choice

Iron is important for your body?

• True

• Only in large amounts

• False

• Not necessary for health

• TOO MUCH irons leads to toxicity

• Extra Iron build up over the years like rust in machine

Excess Iron

• Primarily Buildup in Liver

• Aids the red blood cells to carry oxygen from your lungs to every parts of your body

• Without Oxygen, Organs will start to fail

Iron Function

Relation of Iron to Haemochromatosis

Mainly from food consumption

Where does iron come from?

Quiz 1

Fill in the Blank

Haemochromatosis is often nicknamed as body's ____
(Hint: This is the term we use for the damaging buildup of excess iron in the body, just like metal does when exposed to air and moisture)

Quiz 2

Multiple Choice

The excess iron from this condition first starts to collect in the...

• Stomach

• Liver

• Pancreas

• Bloodstream

The Primarily Cause: Family Hand-Me-Down

• The Most Common Type: This condition is usually Genetic(inherited).

• The Problem Gene: It comes from a faulty instruction in a gene (called HFE).

• Imagine This: You inherited a "recipe hand-me-down" from your parents.

• The Faulty Recipe: This recipe tells your body to keep the iron faucet wide open, never signaling to stop absorption!

Secondary Causes (Acquired): Iron from other sources

• Secondary Haemochromatosis is much less common.

• It means the iron overload is not caused by the faulty gene.

• The iron build-up comes from other health conditions or treatments.

• Examples: High Iron-intake diet, Iron Supplement, Frequent Blood Transfusions (each transfusion introduces more iron).

Image Sources:
Kendall, M. (2025, April 28). Examples of high-iron foods [Image]. Optimising Nutrition. https://optimisingnutrition.com/iron-rich-foods/
Primbet, D., & Embleton, F. (2025, May 7). Iron supplement variants [Image]. Glamour UK. https://www.glamourmagazine.co.uk/article/iron-supplements
Centre for Clinical Haematology. (n.d.). Patient receiving blood transfusion [Image]. CFCH. https://cfch.com.sg/blood-transfusion/

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• The liver normally makes a hormone called hepcidin. Think of it as a “stop sign” for iron – it tells the body when to stop taking in iron from food.

• Ferroportin is like a gate in your gut that lets iron into the blood.

• Normally, hepcidin closes the iron gate, but in haemochromatosis, low hepcidin keeps it open, causing excess iron absorption -> Body will absorb too much iron from food

• Over time, the extra iron builds up in organs like the liver and heart, which can cause damage.

Quiz 3

Multiple Choice

If you are diagnosed with the genetic type, who should you talk to about getting tested?

• No One

• My Immediate Family

• Doctor

• My Partner

Quiz 4

Multiple Select

Acquired factors for excess iron could be due to the following(s):

• Iron Supplements

• High Iron-intake Diet

• Repeated Blood Transfusion

• Age

The Overflow & Silent Alarm

 

• The main "vault" (the Liver) overflows because the body keeps depositing iron.

• The excess iron spills into other sensitive organs, causing damage.

• Slow onset for symptoms to show, hard to detect.

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Target Organs of Iron Overflow:

• Pancreas: Can affect sugar levels (diabetes)

• Joints: Leads to pain and stiffness (arthritis)

• Liver: Causes liver failure (Jaundice & cirrhosis liver cancer)

• Heart: Damage heart muscles (Heart Failure)

• Skin & Others: Bronzing, fatigue and hormonal issues 

 

Quiz 5

Multiple Select

Haemochromatosis affects which organs?

• Liver

• Pancreas

• Skin

• Heart

• Joints

Why Early Detection Matters?

• Symptoms are often vague and mistaken for "just getting older."

• If you catch it early, you can live a normal, healthy life without the serious complications like liver disease, diabetes, or heart trouble etc.

• Prevention for immediate family and future generations.

• Diagnosis: blood test to check iron levels

• Treatment: Phlebotomy - donating blood (This removes extra iron safely and keeps your organs healthy)

• That’s why if you’re a middle-aged man with a family history, or if you’ve been feeling unusually tired or stiff, it’s worth getting tested early to avoid any serious complications over time.

Simple Diagnosis & Treatment

Quiz 6

Multiple Choice

Why is the fatigue caused by Haemochromatosis often ignored or missed?

• It feels like a common cold

• It usually improve with a nap

• It is often mistaken as a normal sign of aging

• It only happens after an intense exercise

Quiz 7

Multiple Choice

What simple test can be can spot iron overload early, before major damage occurs?

• A standard Blood Test

• A simple X-ray

• An expensive CT Scan

• A skin allergy test

Quiz 8

Fill in the Blank

What is the treatment for excess iron?

​References

1. Adams, P. C. (2015). Epidemiology and diagnostic testing for hemochromatosis and iron overload. International Journal of Laboratory Hematology, 37(Suppl 1), 25–30. https://doi.org/10.1111/ijlh.12347

2. Atkins, J. L., Pilling, L. C., Masoli, J. A. H., et al. (2020). Association of hemochromatosis HFE p.C282Y homozygosity with hepatic malignancy. JAMA, 324(20), 2048–2057. https://doi.org/10.1001/jama.2020.21566

3. Bartnikas, T. B. (2014). Liver not making hepcidin? Hemochromatosis! Blood, 123(23), 3535–3536. https://doi.org/10.1182/blood-2014-04-565499

4. Delatycki, M. B., & Allen, K. J. (2024). Population screening for hereditary haemochromatosis—Should it be carried out, and if so, how? Genes, 15(8), 967. https://doi.org/10.3390/genes15080967

5. Fonseca, P. F. S., Cançado, R. D., Naoum, F. A., et al. (2018). Quality of life scores differ between genotypic groups of patients with suspected hereditary hemochromatosis. BMC Medical Genetics, 19, 3. https://doi.org/10.1186/s12881-017-0513-5

​References

6. Ginzburg, Y. Z. (2019). Hepcidin–ferroportin axis in health and disease. In Vitamins & Hormones (Vol. 110, pp. 17–45). Academic Press. https://doi.org/10.1016/bs.vh.2019.01.002

7. Goyal, A., Mohan, B., Saggar, K., & Wander, G. S. (2020). Primary haemochromatosis resulting in dilated cardiomyopathy arising out of mutation in HJV gene in Indian patients: A rare scenario. BMJ Case Reports, 13(9), e235650. https://doi.org/10.1136/bcr-2020-235650

8. Hentze, M. W., Muckenthaler, M. U., & Andrews, N. C. (2004). Balancing acts: Molecular control of mammalian iron metabolism. Cell, 117(3), 285–297. https://doi.org/10.1016/S0092-8674(04)00343-5

9. Kew, M. C. (2014). Hepatic iron overload and hepatocellular carcinoma. Liver Cancer, 3(1), 31–40. https://doi.org/10.1159/000343856

10. Kremastinos, D. T., & Farmakis, D. (2011). Iron overload cardiomyopathy in clinical practice. Circulation, 124(20), 2253–2263. https://doi.org/10.1161/CIRCULATIONAHA.111.050773

​References

11. Latunde-Dada, G. O. (2024). Iron intake and human health. Nutrients, 16(2), 206. https://doi.org/10.3390/nu16020206

12. Li, D., Li, J., Zhang, H., Zhu, Q., Wang, T., Zhao, W., Zhao, S., & Li, W. (2024). Hereditary hemochromatosis caused by a C282Y/H63D mutation in the HFE gene: A case report. Heliyon, 10(6), e28046. https://doi.org/10.1016/j.heliyon.2024.e28046

13. Milman, N. T. (2021). Managing genetic hemochromatosis: An overview of dietary measures, which may reduce intestinal iron absorption in persons with iron overload. Gastroenterology Research, 14(2), 66‑80. https://doi.org/10.14740/gr1366

14. Pinyopornpanish, K., & Brissot, P. (2023). Secondary iron overload and the liver: A comprehensive review. Journal of Clinical and Translational Hepatology, 11(2), 145–155. https://doi.org/10.14218/JCTH.2022.00420

15. Walter, K. (2022). What is hereditary hemochromatosis? JAMA, 328(18), 1879. https://doi.org/10.1001/jama.2022.19462

16. Wang, K., Chen, J., Zhu, X., Gui, X., Xu, S., Li, Z., … Qian, J. (2022). Genetic effects of iron levels on liver injury and risk of liver disease. Frontiers in Nutrition, 9. https://doi.org/10.3389/fnut.2022.964163