Aplastic anaemia: symptoms, causes, treatment and outlook

NHS inform says symptoms of aplastic anaemia vary in severity and are caused by low blood counts, which affect red blood cells, white blood cells and platelets. They can include fatigue, shortness of breath, headaches, chest pains, bleeding, bruising and recurring severe infections. Some patients also report brain fog and poor concentration, which may be caused by aplastic anaemia, different treatments or other factors.

Great Ormond Street Hospital explains why in children: red blood cells carry oxygen, so a low count can make a child lack energy, look pale and become breathless; low platelets cause easy bruising, bleeding gums, nosebleeds or red pinprick spots under the skin; and low neutrophils (a type of white cell) mean more or longer infections. It says the most common symptom in children is bruising without a fall or knock.

• Feeling very tired, pale or short of breath.

• Bruising easily, nosebleeds, bleeding gums or tiny red spots on the skin.

• Infections that keep coming back or take longer to clear.

• Headaches or chest pain.

Bone marrow is found within the bones and makes blood cells. NHS inform says that in people with aplastic anaemia the bone marrow does not produce blood cells normally: the production of blood cells can slow down or stop altogether, so there are not enough in the body. There are three types of blood cell: red blood cells that carry oxygen, white blood cells that fight infection and platelets that stop bleeding and bruising.

NHS inform says healthcare professionals measure the level of blood cells to work out severity, with the condition described as very severe, severe or not severe, and that the fewer blood cells there are, the more severe the condition is likely to be.

NHS inform stresses that when people talk about anaemia they often mean iron deficiency anaemia, but aplastic anaemia is different: it is a serious bone marrow condition. It is not a blood cancer, but some of the treatments may be similar.

NHS inform says treatment is usually managed by haematologists, who are specialist blood doctors, and is tailored to how severe the condition is, your age, your general health and any underlying health conditions. The general approach involves looking for any specific cause, stopping any medications that might have contributed, providing supportive care to treat symptoms and reduce the risk of bleeding and infections, and considering definitive therapy with immunosuppression or a stem cell transplant.

For aplastic anaemia that is not severe, treatment may involve supportive care, such as stopping medicines that could be causing a low blood count, blood transfusions, or medication if you have recurring infections. Some people are offered watch and wait, also called careful monitoring, and some may be offered immunosuppressive treatment (IST) with anti-thymocyte globulin (ATG) and ciclosporin.

People with severe or very severe aplastic anaemia receive ongoing supportive care and will usually need definitive treatment to allow the bone marrow to recover, either a stem cell transplant or immunosuppressive treatment. Which one depends on age, health and the availability of a stem cell donor. NHS inform says ATG is usually given in hospital over a few days through a drip and combined with ciclosporin tablets, likely to continue for about a year, and that some people may also be offered eltrombopag.

NHS inform says that in most cases the cause of aplastic anaemia is not known. It is seen as an unusual immune disorder, because the immune system attacks the bone marrow. Healthcare professionals investigate whether it could be caused by medication, an infection (including viral infections or hepatitis), an autoimmune condition or an inherited condition.

It lists inherited conditions that can cause it, including Fanconi anaemia, dyskeratosis congenita and Shwachman-Diamond syndrome, and says a genetic test may be needed to rule out some of these causes. Great Ormond Street Hospital says that about one in ten patients with aplastic anaemia have had a recent viral infection, often hepatitis, and that the commonest inherited cause is Fanconi anaemia.

NHS inform says aplastic anaemia can sometimes be associated with another rare condition called paroxysmal nocturnal haemoglobinuria (PNH).

NHS inform says aplastic anaemia is a rare cause of low blood count, so if you have symptoms of a low blood count you will need tests to rule out other more likely reasons and find the exact cause. Most patients will need blood tests and bone marrow investigations, and some may need X-rays and other scans or genetic testing. You will also need tests to find out how severe it is, and your team will check you have enough vitamin B12 and folate to make blood cells.

Great Ormond Street Hospital says the full blood count may show that the bone marrow is not producing enough healthy blood cells, but it cannot prove aplastic anaemia, and symptoms and results can sometimes be confused with leukaemia. It says the only method of diagnosing aplastic anaemia with certainty is examining a sample of bone marrow under a microscope, which in aplastic anaemia shows fewer normal cells than usual and no abnormal cancer cells.

Great Ormond Street Hospital says aplastic anaemia is rare, with about thirty to forty children diagnosed each year, and affects males and females equally. Children are more likely than adults to have an inherited form and do better than adults with stronger treatment options such as bone marrow transplantation.

It describes a bone marrow transplant from a matched brother or sister as the best treatment for idiopathic aplastic anaemia, available to about a quarter of children. Where there is no matched sibling, immunosuppressive treatment with ATG and ciclosporin works in six out of ten children at best, and a transplant from a matched unrelated donor is another option. Parents need to discuss with their clinician which option is best for their child.

NHS inform says that if you have aplastic anaemia and a low white blood count you are at higher risk of severe infections, so you should get medical help quickly if you become unwell. People with a low platelet count are also at higher risk of bruising and bleeding.

It says patients may need to take steps to protect themselves from infections in a similar way to people being treated with chemotherapy, and that immunosuppressive treatment makes you more vulnerable to infection, so you will be monitored closely with regular blood tests.

NHS inform says aplastic anaemia can affect day-to-day life: you may need to miss work or university or ask for adjustments, and may need to avoid large gatherings and people with minor illnesses when your white count is low. It describes fatigue as an overwhelming exhaustion that does not get better with rest and sleep, and suggests building up what you do gradually, listening to your body, adjusting how you do things and avoiding doing too much on better days.

It points to the Aplastic Anaemia Trust for a support line, events and emotional wellbeing support, and suggests talking to others, relaxation techniques and self-help guides when the uncertainty is stressful. Speak to your healthcare team if you need further support managing fatigue.

On the NHS, aplastic anaemia is managed by haematologists. NHS inform says that if you live in Scotland and a stem cell transplant is being considered you will be referred to the allogeneic stem cell transplant service in Glasgow. Great Ormond Street says that in children the GP or local paediatrician usually carries out the first blood tests, and then refers to a paediatric haematologist.

Private haematology consultations are also available for assessment or a second opinion. Ask any private clinician how care and results will be shared with your NHS haematology team, because treatment is tailored to severity, age and health and needs close specialist monitoring.