What it is
Severe types need regular blood transfusions and medicines to remove extra iron from the body (chelation therapy). A stem cell transplant can cure it in some people.
Carriers do not need treatment, but it is important to know, as it can affect children if both parents are carriers. Carriers should not take iron unless iron levels are low.
Common signs
- Tiredness and weakness
- Shortness of breath
- Pale or yellow skin
- Delayed growth in children
- Changes to the bones of the face
How it is usually diagnosed
- Blood tests, including haemoglobin studies
- Screening in pregnancy
- Newborn screening
- Genetic tests
Records worth keeping
Keeping these together makes each appointment easier, especially when you see a new doctor:
- Full blood count and haemoglobin study results
- Transfusion records
- Iron levels and chelation records
- Haematology letters
Questions to ask your doctor
- Am I a carrier or do I have the condition?
- Should my partner be tested?
- How often will I need transfusions?
When to get help right away
Call 112 or go to the nearest emergency department if you have:
- Severe breathlessness, chest pain, a high temperature or very pale skin: get urgent help, call 112
This page is general information. It is not a diagnosis and does not replace a doctor who knows your history. Medfold keeps your records organised; it does not interpret them.