Haemochromatosis2025-06-23T20:31:55+01:00

Haemochromatosis

A condition where the body absorbs too much iron from the diet. This excess iron builds up in organs — especially the liver, heart, and pancreas — and can cause serious damage over time. A condition where the body absorbs too much iron from the diet. This excess iron builds up in organs such as the liver, heart, and pancreas and can cause damage over time.

Haemochromatosis Overview

Understanding Causes, Symptoms, and Risk Factors

Causes

Genetic Haemochromatosis (Hereditary)
Caused by

  • mutations in the HFE gene (most commonly C282Y and H63D mutations).
  • Inherited in an autosomal recessive pattern — both parents must pass on the faulty gene.
  • Most common in people of Northern European descent.

Secondary (Acquired) Haemochromatosis

Caused by other conditions such as

  • Repeated blood transfusions
  • Chronic liver disease
  • Certain types of anaemia (e.g. thalassaemia, sideroblastic anaemia)
  • Excessive iron supplements (rare)

Symptoms

  • Fatigue, weakness or joint pain
  • Bronze, greyish skin tone
  • Enlarged liver, cirrhosis, liver damage
  • Diabetes
  • Irregular heartbeat, heart failure
  • Loss of libido, erectile dysfunction, menstrual irregularities
  • Arthritis like symptoms

Risk Factors

Having two copies of the mutated HFE gene (C282Y)

In men between the ages of 30-40 and women after menopause.

More common in men. Women tend to lose iron through menstruation and pregnancy.

Conditions like hepatitis C or fatty liver disease.

Can Haemochromatosis be prevented?

Hereditary haemochromatosis cannot be prevented due to it being a genetic condition but complications can be prevented or minimised.

Early Detection and managing symptoms before they start is key.
Genetic Screening – If you have a family history of haemochromatosis then you can be tested for the HFE gene mutation.
Routine Blood tests – Testing for ferritin and transferrin saturation can detect iron overload before symptoms start.

How Chequers can help Diagnose and Treat

Venesection

Patient having an iron infusion by a clinician

An effective treatment for haemochromatosis


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    Frequently Asked Questions

    A pelvic ultrasound is a non-invasive imaging test used to assess organs and structures in the pelvic area. It is commonly used to examine the uterus, ovaries, bladder, and other surrounding tissues

    A pelvic scan can help investigate symptoms such as pelvic pain, irregular periods, bloating, or unusual bleeding. It can also support monitoring of known conditions like ovarian cysts or fibroids.

    No. While commonly used in women’s health, pelvic scans can also be performed on men to evaluate the bladder, prostate, or other pelvic concerns.

    Transabdominal scans are performed over the lower abdomen using external ultrasound.

    Transvaginal scans involve inserting a small probe into the vagina for clearer imaging of internal pelvic organs. This is optional and requires your consent.

    You may be asked to drink water before the scan to ensure a full bladder, which helps improve visibility. Specific instructions will be provided when booking.

    Most pelvic scans are painless. You may feel slight pressure during the procedure. Transvaginal scans may feel a little uncomfortable, but should not be painful.

    The scan typically lasts between 15 to 30 minutes, depending on the areas being assessed and the type of scan performed.

    While a pelvic scan can detect certain abnormalities, such as masses or cysts, it is not a cancer screening test. Any unusual findings will usually be referred for further specialist investigation.

    The scan images are reviewed by a reporting clinician or radiologist. The results are typically sent to the referring clinician, who will discuss them with you during a follow-up consultation.

    Ultrasound is considered very safe. It does not involve ionising radiation and is commonly used in pregnancy and routine diagnostic imaging.

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