Aplastic anaemia is a rare condition in which the bone marrow stops making enough red cells, white cells and platelets. It is marrow failure, not cancer, although it is treated by the same specialists who treat leukaemia.
Severity ranges from mild counts that are only watched to very severe disease that is dangerous within weeks because of infection and bleeding. Treatment choice depends on severity, age and whether a matched donor exists.
Symptoms
- Tiredness, pallor and breathlessness on exertion
- Frequent or prolonged infections and fevers
- Easy bruising and tiny red skin spots (petechiae)
- Nosebleeds and bleeding gums
- Heavy periods
- Headache or palpitations from anaemia
Causes and risk factors
In most adults the immune system attacks the marrow stem cells for no identifiable reason. Known triggers include certain medicines, benzene and other chemicals, viral hepatitis and, rarely, pregnancy. In children and young adults an inherited marrow failure syndrome such as Fanconi anaemia or a telomere disorder must be excluded, because it changes treatment doses and donor selection. The condition overlaps with paroxysmal nocturnal haemoglobinuria, and a small clone is commonly found.
How it is diagnosed
- Full blood count and reticulocytes: Show low counts in at least two cell lines with a poor marrow response.
- Bone marrow aspirate and trephine biopsy: Essential. It shows an empty, fatty marrow and rules out leukaemia and myelodysplasia.
- Cytogenetic and inherited syndrome tests: Chromosome breakage testing and telomere length in younger patients.
- PNH flow cytometry and viral screen: Look for an associated clone and for hepatitis, HIV and other triggers.
- HLA typing: Done early in anyone who might need a transplant, together with siblings.
Treatment options
- Supportive care: Irradiated, filtered blood and platelet transfusions, prompt antibiotics for fever and avoidance of unnecessary transfusion from relatives who may become donors.
- Matched sibling stem cell transplant: First choice for younger patients with severe disease and a matched brother or sister.
- Immunosuppressive therapy: Horse anti-thymocyte globulin with ciclosporin, usually combined with eltrombopag, for those without a sibling donor or who are older. Response takes 3 to 6 months.
- Unrelated or half-matched donor transplant: Used when immunosuppression fails, and increasingly earlier in children.
- Monitoring: Lifelong follow-up for relapse and for later clonal disease.
When it is urgent
A temperature of 38 degrees or higher with a low white count is an emergency and needs hospital antibiotics within the hour. Bleeding that does not stop, a severe headache, black stools or blood in vomit also need immediate local care. Someone in this state must not travel.
Travelling to Türkiye for treatment
Newly diagnosed severe aplastic anaemia should be stabilised and treated where you are, since delay and air travel with very low counts are hazardous. Travel becomes reasonable for a planned transplant once you are stable, transfusion support is arranged and a donor has been identified. Expect to stay near the transplant centre for around three months, with a carer. Donor searches in international registries are run by the transplant centre. Bring the biopsy report and slides.
Send your reports, scans and a short history and a Clinic-Y coordinator replies within 24 hours with suitable teams and written, all-inclusive proposals side by side. Reviewing your case is free.
Frequently Asked Questions
Is aplastic anaemia a cancer?
No. The marrow is empty rather than overgrown. A small proportion of patients develop clonal disease later, which is why follow-up continues.
How long does immunosuppression take to work?
Usually three to six months, and transfusions are needed in the meantime.
Can my sibling be tested abroad?
HLA typing is a blood or cheek swab test that can be done locally and the report sent on.
Can I fly with low platelets?
Only on your haematologist's advice. Many set a minimum platelet count and transfuse before travel.