Rare anaemias information
Anaemia is a condition where the number of red blood cells or the amount of haemoglobin in red blood cells is less than normal.
Red blood cells contain haemoglobin. This is the substance that makes blood red. Its main purpose is to carry oxygen around the body. If the body does not receive enough oxygen, various symptoms occur. These include tiredness, weakness and lack of energy. If the anaemia becomes more severe, it can become life threatening.
Anaemia can be caused by many things, including losing a lot of blood after surgery or an accident, a decrease in the number of red cells being produced in the bone marrow or an increase in the number of red cells being destroyed by the body.
What is hereditary spherocytosis?It is a common cause of the destruction of red blood cells and of haemolytic anaemia. The red blood cells have an abnormal covering, which does not hold them in shape, so they become sphere shaped. This means they have difficulty passing through the spleen (which removes abnormal cells) and are destroyed prematurely.
How common is it? It occurs in approximately 1 in every 5000 people of North European ancestry. It is the most common inherited abnormality of the red blood cell membrane that is present at birth.
Is it inherited? It is usually inherited as an autosomal dominant trait. For more information on how your child inherited the condition, please ask to see a genetic counsellor.
What are the symptoms? It may cause haemolytic disease in a newborn child. This may show up as anaemia and jaundice which may be serious enough to need a transfusion or phototherapy. Some people do not have symptoms until they are adults or at all, others may be very pale, jaundiced or suffer fatigue especially after exercise. After infancy, the spleen may become enlarged and gallstones may form. Children with the condition are also susceptible to periods of more severe anaemia where no or too few blood cells are produced, due to infection with a virus called a parvovirus.
How is it treated? Some children do not need any treatment at all. However, for severe hereditary spherocytosis, the best form of treatment is removal of the spleen (splenectomy). After the spleen is removed, there will still be misshapen red blood cells but the anaemia and jaundice will improve. Splenectomy is not advised in early childhood, as there is an increased risk of infection. However, some children do require early splenectomy for severe hereditary spherocytosis.
What is Fanconi’s Anaemia?This is an inherited anaemia, which is present at birth, although it may not be diagnosed straightaway. It is a blood condition caused by the bone marrow failing. This means that new blood cells of all types are not produced very well, which can lead to a variety of symptoms. Children with Fanconi’s Anaemia often have other symptoms present at birth, such as problems with their lower arms or hands. As they get older, they may not grow as well as they should. These effects are not usually life threatening.
How common is it?It is the most commonly reported type of inherited bone marrow failure condition although it is still very rare. Around 1200 cases have been reported in the medical literature since it was discovered in the 1920s.
How is it inherited?Fanconi’s Anaemia is inherited as an autosomal recessive trait. This means that both parents have to pass on the faulty gene(s) for Fanconi’s Anaemia for their child to run the risk of having the condition. For more information on how your child inherited the condition, please ask to see a genetic counsellor.
What are the symptoms?The symptoms of the condition develop because the bone marrow is failing and not producing enough new blood cells to replace those naturally destroyed by the body. Fanconi’s Anaemia affects all types of blood cell. Having too few red blood cells in circulation can lead to a child looking pale and tiring easily. A low number of white blood cells can make it harder for a child to fight infection. Platelets are responsible for blood clotting so low numbers of these can lead to bruising and bleeding.
How is it treated?Initially, transfusions of the various types of blood cell might be needed to boost the numbers in circulation. Which transfusions are needed is decided on the results of regular blood testing. Medicines such as G-CSF (Granulocyte Colonisation Stimulating Factor) can help improve blood cell numbers by stimulating the bone marrow to produce more.
In severe cases, bone marrow or stem cell transplantation is the treatment of choice and will be explored if family members are potential donors. Brothers and sisters (and other relatives) of a child with Fanconi’s Anaemia should be tested both to see if they are potential donors and also to confirm or rule out whether they have inherited the condition as well.
If there are no potential bone marrow donors available, then the symptoms of Fanconi’s Anaemia can sometimes be controlled by androgens (male hormones). These work by stimulating the bone marrow to produce more cells, especially red blood cells. An unrelated bone marrow done search will also begin.
Regular check ups are necessary for children with Fanconi’s Anaemia. These will often consist of blood tests to see how many blood cells are in circulation and to monitor effects of treatment. More general check ups are also need to detect any long-term effects, as unfortunately, children with Fanconi’s Anaemia seem to be at a higher risk of developing leukaemia or some cancers than other children.
What is Diamond-Blackfan Anaemia?This is an inherited anaemia, which is present at birth, although it may not be diagnosed straight away. Most are diagnosed by the age of two years. It is a blood condition caused by a failure of the bone marrow. Affected children do not produce many red blood cells and so may be pale, weak and lethargic.
How common is it?It is very rare, affecting approximately 125 people in the UK and only 600 to 700 people worldwide.
How is it inherited?Unlike Fanconi’s anaemia, there is nothing abnormal with the chromosomes. It is not clear how it is inherited, some cases develeop for no reason, some by an autosomal dominant or autosomal recessive trait. In up to 25 per cent of children with Diamond-Blackfan Anaemia, there is a fault within the RPS19 gene. Further research into how Diamond-Blackfan Anaemia is inherited is ongoing. For more information about this, please ask to see a genetic counsellor.
What are the symptoms? The symptoms of the condition develop because the number of red blood cells produced in the bone marrow is lower than usual. We do not understand why this happens, although research is always being carried out into the condition.
Symptoms of the condition include unusual weakness, pallor, lethargy and poor appetite and feeding. This is usually noticed in early infancy. Children with Diamond-Blackfan Anaemia may have some physical differences, but most show none of these or minor abnormalities to their facial features. Physical abnormalities that have been reported include lack of normal growth, a snub nose, widely spaced eyes and a protruding upper lip. The neck may be webbed or shorter than usual and immobile due to the bones in the neck being fused. The shoulder blades may be more prominent than usual and the hand may not be formed properly.
How is it treated? Initially, in order to increase the number of red cells circulating in the body, a blood transfusion may be needed. Steroids should start as early as possible. These work in a way which is not yet fully understood, but possibly through interfering with the body’s immune system. Some children do not respond to steroids at all or do to begin with but then stop. These children will then require regular blood transfusions.
There are some side effects of multiple blood transfusions, which in turn can affect the liver and heart and cause a build up of iron in the tissues of the body. If too much iron builds up, your child will need another drug (deferoxamine) to prevent this. Infections and viruses can make this condition worse.
Bone marrow transplants are becoming a more popular choice for a curative treatment for patients who do not respond to steroids and are severely affected, requiring regular blood transfusions and chelation therapy. Rarely, some people recover from Diamond-Blackfan Anaemia completely but this is uncommon and impossible to predict.
What is sideroblastic anaemia? Sideroblastic anaemia is a disorder where the body produces enough iron but is unable to put it into the haemoglobin. A sideroblast is a cell in which there is an abnormally large build up or iron.
How common is it?Again, sideroblastic anaemia is a rare disorder.
Is it inherited? Some forms of the condition are inherited as an X-linked trait. Some forms, usually seen in adults, are acquired by exposure to alcohol, lead or drugs. Others are not inherited but appear for no reason (idiopathic) but these tend to affect older people. For more information about the inherited forms of sideroblastic anaemia, please ask to see a Genetic Counsellor.
What are the symptoms? Symptoms include weakness, fatigue and difficulty in breathing. The build up of iron in the body can cause an enlarged spleen or liver, and abnormal heart rhythms. The symptoms tend to be mild in childhood but become more severe in adulthood.
How is it treated? There are various drugs that are used to treat sideroblastic anaemia, including pyridoxine. Iron overload can be treated by another drug, deferoxamine. Blood transfusions are also used to treat the condition.
Congenital Dyserythopoietic Anaemias (CDAs)
What are CDAs?They are a rare group of hereditary anaemias, where the body cannot produce red blood cells effectively. The word ‘dyerythopoiesis’ was originally used to describe unrecognised congenital anaemias. More recent research has confirmed three main types: CDA I, CDA II and CDA III. These types are diagnosed by looking in depth at the way red blood cells are produced and how they function. The symptoms of all three types are similar.
How common is it? Only about 300 cases of the various types of CDAs have been reported in the world. It is likely, however, that CDAs are more common than this, but that many people who have no symptoms or little or no sign of anaemia, have not been diagnosed with the condition. CDA III is the rarest type with only around 50 cases documented, mainly in the same three families.
Is it inherited? CDAs are inherited conditions. CDA I and II are inherited as an autosomal recessive trait, and CDA III as an autosomal dominant trait. For more information on how your child inherited the condition, please ask to see a Genetic Counsellor.
What are the symptoms? Children with CDA are usually taken to the doctor because they have some degree of anaemia. Severe anaemia can cause your child to look pale and tired and have a poor appetite. When your child is examined, he or she may have an enlarged spleen and may appear jaundiced.
How is it treated? Blood transfusion may be needed in children who have severe anaemia, or when their anaemia becomes worse due to infection. Red blood cell levels will be monitored to check whether they need a transfusion. As the red blood cells do not function well in a child with CDA, iron may begin to build up in his or her body. The level of iron can be monitored by a blood test and a drug called desferioxamine can reduce high levels of iron. Folate supplements may also be prescribed to help prevent any further damage to red blood cells. In some cases of CDA II, removal of the spleen has led to a vast improvement in health.
If you have any questions about rare anaemias and their treatments, please call the Haematology Clinical Nurse Specialist on 020 7829 7990.
You can learn more about our clinical specialties by visiting haemotology
The only rare anaemia with its own support group is Diamond-Blackfan Anaemia:
Diamond Blackfan Anaemia Support Group
For other rare anaemias, the Haemophilia Society may be able to offer help and advice:
Helpline: 0800 018 6068
Compiled in collaboration with the Child and Family Information Group
Last reviewed at Great Ormond Street Hospital on: April 2007