Aplastic anaemia. Information for patients. Networked Services

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1 Networked Services Aplastic anaemia Information for patients This leaflet explains aplastic anaemia and how it is treated. If you have any queries or concerns, please speak to the specialist team caring for you. 1

2 What is aplastic anaemia (AA)? It is a rare but serious blood disorder in which your bone marrow fails to produce enough blood cells. What causes AA? There are two types of AA acquired and inherited and the causes of each are different. Acquired: this is the most common type of AA. You develop the condition and are not born with it. Acquired AA is usually idiopathic, which means we do not know the cause. Inherited: you can inherit a faulty gene, which causes you to develop AA later in life. Inherited AA is rare. There are a number of types, including Fanconi anaemia. If you are born with this faulty gene, you are most likely to develop AA between the ages of 10 and 15 or over 60. How does my body make blood? Your blood cells are made from special cells called stem cells. Stem cells grow into all the different blood cells red and white blood cells and platelets that your body needs. Stem cells are made by your bone marrow, a spongy material found in all the long bones in your body, such as your thigh, hip and breast bones. It is your blood cell production factory. Normal Severe aplastic anaemia Figure 1 Figure 2 2 Bone Marrow Figure 1: A normal bone marrow sample (trephine) Figure 2: A bone marrow sample lacking cells, which suggests AA.

3 What do the different types of blood cells do? Red blood cells carry oxygen around your body. White blood cells do several things, depending on their type: neutrophils fight bacterial infections, while lymphocytes help fight viruses such as chicken pox and measles. Platelets stop you from bleeding and bruising. What happens if I have AA? Your bone marrow becomes damaged and starts to produce fewer blood cells and platelets. Your immune system, which normally monitors your body and helps it to fight infections and bugs, then starts to attack your bone marrow because it thinks there is something wrong with it, or that it is foreign and not part of your body. It stops your bone marrow from healing and working normally. Treatment for AA aims to slow down or dampen your immune system, to allow your bone marrow to heal and start producing blood cells normally again. What are the symptoms of AA? If your bone marrow does not produce enough blood cells, you may have a number of symptoms. A low number of red blood cells causes anaemia. This leads to low energy levels, headaches, and shortness of breath when you are doing moderate exercise such as going up stairs or light work/activity. You can sometimes have palpitations, where you notice your heartbeats and your heart may feel like it is pounding, fluttering or beating irregularly for a few seconds or minutes. If your anaemia is severe, you may even have chest pain. You usually need regular blood transfusions to increase the number of red cells in your blood and improve your energy levels. 3

4 A low number of white blood cells especially neutrophils, which fight bacterial infections makes you more prone to fevers, bacterial and fungal infections, and sometimes serious infections which means you have to be admitted to hospital. Common infections include: o a sore throat that will not go away or keeps coming back o skin infections o chest infections. A low number of platelets can make you bruise and bleed more easily. You often need platelet transfusions to help prevent bleeding and bruising. Common signs include: o bleeding gums, particularly during or after brushing your teeth o nose bleeds o periods that are heavy or last longer than usual o blood blisters in your mouth o bruised skin, sometimes when you have not knocked yourself o a rash made up of small red spots known as petechiae or purpura, mostly on your legs. Figure 1 Figure 2 Some examples of bleeding caused by low platelets Figure 1: Bruised skin on arms/hands Figure 2: Blood blisters in the mouth 4

5 How do you measure the severity of AA? The degree to which your bone marrow fails can vary from mild to very severe. This means that some people have more severe AA than others and become more ill. AA can be divided into three groups: non-severe aplastic anaemia (NSAA), severe aplastic anaemia (SAA) and very severe aplastic anaemia (VSAA). The blood counts you can expect with each grouping are shown in the table on page 6. Knowing the number of cells in your bone marrow, as well as how low your blood counts are when you are diagnosed, is very important because it helps doctors to work out the severity of your AA and the best treatment. Sometimes the symptoms show slowly and get worse over time because your ability to produce stem cells gradually declines and your degree of bone marrow failure changes. How do you diagnose AA? You will have a number of tests. These are mainly to make sure you do not have any other condition that could be causing your low blood counts. Blood tests We take samples of your blood to test for AA and other conditions. They include: a full blood cell count, including checking the number of young blood cells (reticulocytes) checking your iron, vitamin B12 and folate levels to make sure your anaemia is not caused by nutritional problems screening for autoantibodies 5

6 checking your chromosomes for certain inherited types of AA, such as Fanconi anaemia checking to see how well your liver is working and for viruses such as hepatitis A, B and C, HIV, Epstein-Barr virus (EBV) and parvovirus screening for a rare blood condition called paroxysmal nocturnal haemoglobinuria (PNH). AA types Non-severe AA (NSAA) 6 Blood counts and bone marrow cells Counts are not as low as severe/very severe AA. Severe AA (SAA) Bone marrow cells <25%, or 25-50% with less than 30% of stem cells in your bone marrow. Very severe AA (VSAA) You have two out of the following three: platelets <20 x 10 9 /L reticulocyte <60* x 10 9 /L neutrophils <0.5 x 10 9 /L. Same as severe AA but neutrophils <0.2 x 10 9 /L. What this means Your blood counts are low but not bad enough for you to have severe AA. You may need transfusions of red blood cells but not usually platelets. You are not usually at risk of infection. You have two of the following: a low platelet count less than 20 (the normal range is between 150 and 400) a young red blood cell (reticulocyte) count of less than 25 the normal range is between 50 and 150 an absolute neutrophil count of less than 0.5 the normal range is between The same as for severe AA but your absolute neutrophil count is very low, at less than 0.2. *60x10 9 /L using automated reticulocyte count, 20 x 10 9 /L using manual reticulocyte count

7 Bone marrow tests We take a sample of your bone marrow from inside one of your bones usually the hip bone using a needle (bone marrow aspirate) along with a sample of the bone itself (bone marrow trephine). We test these samples to establish a diagnosis of AA. How is AA treated? There are two types of treatment: (i) Supportive therapy treats the symptoms of AA. If you have a low red blood cell count you will have blood transfusions and if you have a low platelet count you will have platelet transfusions. We also give you antibiotics and antifungal drugs to prevent and treat infections. (ii) Definitive therapy aims to get your bone marrow working again so you do not need blood transfusions, are no longer at risk of bleeding or infections and can lead a fairly normal life. It can take a few months and sometimes longer to see a response to definitive therapy. It is important to continue having regular follow-up appointments with your medical team and supportive care during this time, as you may still be at risk of problems with anaemia, bruising, bleeding and infections. You will need some type of definitive therapy unless you have non-severe AA and you do not need any blood or platelet transfusions. The main types of definitive therapy are: Immunosuppressive treatment: we can give you drugs to dampen down your immune system and allow your bone marrow to heal, start working properly again and make all blood cells. 7

8 The drugs antithymocyte globulin and cyclosporine suppress your faulty immune system and stop it from attacking your stem cells. This treatment gives you a good chance of long-term survival and a near-normal to normal quality of life. Stem cell/bone marrow transplants: a bone marrow transplant replaces your empty bone marrow and abnormal immune cells with stem cells received from a donor, either a matched relative or an unrelated donor, which then makes the blood cells and also provides a new immune system. Not all patients are suitable for a transplant and this treatment is more successful in children, young adults and those who are under 50 and otherwise fit and well. But this does not mean that if you are over 50 you cannot have a transplant. This treatment is becoming more successful and is being assessed in patients in their 60s if they are otherwise fit and well. As the risk of complications after transplant increase with age, we assess each patient individually, based on their general health and fitness. We will discuss with you in detail all the risks and benefits. If a matched bone marrow donor is not available, there may be other methods that can be tried such as using cord blood stem cells or bone marrow stem cells from a family member who is half-matched. Other treatments Other treatments include anabolic steroids (androgens) and alemtuzumab (antibody-based therapy). Growth factors for blood cells such as erythropoietin (Epo) and G-cSF are usually not very beneficial or effective in the treatment of AA. 8

9 Who do I contact with queries and concerns? If you have any queries or concerns, please contact the aplastic anaemia and bone marrow failure team: Consultant Haematologists Tel or Clinical Nurse Specialists Tel Where can I get more information? Joint AA/MDS/AML Support Group The AA/MDS Support Group meets three times a year. These meetings give you a chance to talk to others with rare blood conditions and find out more. Doctors, nurses and other healthcare professionals come along to share any new developments and answer general questions. For the date of the next meeting, go to the Patient Support section on the Aplastic Anaemia Trust web site: Leukaemia CARE This leaflet was written by the following members of King s College Hospital NHS Foundation Trust s Department of Haematological Medicine: Nana Benson-Quarm, CNS, AA and Bone Marrow Failure Syndromes; Professor Judith Marsh, Professor of Clinical Haematology, Lead Consultant; Dr Austin Kulasekararaj, Consultant Haematologist; and Dr Shreyans Gandhi, Senior Clinical Research Fellow. 9

10 Sharing your information We have teamed up with Guy s and St Thomas Hospitals in a partnership known as King s Health Partners Academic Health Sciences Centre. We are working together to give our patients the best possible care, so you might find we invite you for appointments at Guy s or St Thomas. To make sure everyone you meet always has the most up-to-date information about your health, we may share information about you between the hospitals. Care provided by students We provide clinical training where our students get practical experience by treating patients. Please tell your doctor or nurse if you do not want students to be involved in your care. Your treatment will not be affected by your decision. PALS The Patient Advice and Liaison Service (PALS) is a service that offers support, information and assistance to patients, relatives and visitors. They can also provide help and advice if you have a concern or complaint that staff have not been able to resolve for you. The PALS office is located on the ground floor of the Hambleden Wing, near the main entrance on Bessemer Road - staff will be happy to direct you. Tel: Fax: You can also contact us by using our online form at If you would like the information in this leaflet in a different language or format, please contact PALS on

11 Your notes: 11

12 Corporate Comms: 0827 PL647.1 February 2015 Review date February 2018

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