Below we have listed all the frequently asked questions related to Sickle Cell or Thalassaemia, under each section heading click on the drop down to find answers to any questions you may have about your diagnosis.
We also have a selection of PDF leaflets that you can download, just visit our Patient leaflets page .
In the UK, about 12,500 people have SCD. It is more common in people whose family origins are African, African-Caribbean or (less commonly in the UK) Asian or Mediterranean. It is rare in people of North European origin. On average, 1 in 2,400 babies born in England have SCD, but rates are much higher in some urban areas - about 1 in 300 in some places.
SCD is now one of the most common inherited conditions in babies born in the UK.
The cause is inherited (genetic). It is a change in the genes which tell the body how to make an important protein called haemoglobin. To get SCD, you need to have two altered haemoglobin genes, one from each parent. If you only have one of these genes, you will have sickle cell trait, which is very much milder.
The most common type of SCD occurs where you have two sickle cell genes (sickle cell anaemia). The medical shorthand for this is haemoglobin SS (or HbSS). Other types of SCD involve one sickle cell gene plus another abnormal haemoglobin gene of a different type. These include: haemoglobin SC; haemoglobin S/beta thalassaemia; haemoglobin S/Lepore; haemoglobin SO Arab.
The symptoms, diagnosis and treatment are similar for all the sickle cell conditions.
Sickle cell genes affect the production of an important chemical called haemoglobin. Haemoglobin is located in red blood cells, which are part of the blood. Haemoglobin carries oxygen and gives blood its red colour.
The sickle cell genes make the body produce abnormal haemoglobin called HbS. (Normal haemoglobin is called HbA.) HbS behaves differently from HbA. Under certain conditions, HbS makes the red blood cells change shape - instead of the normal doughnut shape, they become sickle-shaped, like a crescent moon. This is called sickling. Conditions which trigger sickling are cold, infection, lack of fluid in the body (dehydration), low oxygen, and acid (acid is produced in hard physical exercise).
The sickle cells containing mostly HbS are harder and less flexible than normal red blood cells. So, they can get stuck in small blood vessels and block them. This can happen quite suddenly, causing various symptoms which are known as a sickle cell crisis (explained below). Repeated blockages can also lead to complications occurring.
The sickle cells are destroyed more easily than normal red blood cells. This means that people with SCD tend to be short of red blood cells and have a moderate and persistent anaemia. A moderate anaemia is not usually a problem because the HbS (the different haemoglobin) carries oxygen well, and the body can compensate. However, you may get bouts of severe anaemia for various reasons. For example, if too much blood goes to the spleen, if too many red blood cells break down at the same time, or due to certain infections which stop blood cells being made. A severe anaemia can make you very ill.
Sickle cell disease is usually detected during pregnancy or soon after birth.
Blood tests can also be carried out at any time to check for the condition or to see if you're a sickle cell carrier and are at risk of having a child with the condition.
Screening to check if a baby's at risk of being born with sickle cell disease is offered to all pregnant women in England.
In parts of England where sickle cell disease is more common, pregnant women are offered a blood test to check if they carry sickle cell.
In areas where sickle cell disease is less common, a questionnaire about your family origins is used to work out whether you should have a blood test for sickle cell.
You can also ask to have the blood test even if your family origins do not suggest your baby would be at high risk of sickle cell disease.
Screening should ideally be carried out before you're 10 weeks pregnant so you and your partner have time to consider the option of further tests to find out if your baby will be born with sickle cell disease.
In England screening for sickle cell disease is offered as part of the newborn blood spot test (heel prick test).
This can help to:
If newborn screening suggests your baby may have sickle cell disease, a second blood test will be carried out to confirm the diagnosis.
A blood test can be done at any time to find out if you carry sickle cell and are at risk of having a child with sickle cell disease.
This is also known as having the sickle cell trait.
Getting tested can be particularly useful if you have a family history of sickle cell disease or your partner is known to carry the sickle cell trait.
If you think you could be a carrier, talk to a GP about having the test.
Both men and women can have the test.
As a rule, SCD cannot be cured, so lifelong treatment and monitoring are needed. There are a number of different treatments which help to prevent sickling episodes, or prevent related problems such as infection.
Stem cell transplant is the only available treatment that can cure SCD. It is only used for severe SCD. Its use is limited by side-effects of the procedure and the availability of suitable donors.
Crizanlizumab for preventing sickle cell crises in sickle cell disease
The National Institute for Health and Care Excellence (NICE) has recommended that specialist teams can apply to offer crizanlizumab to some patients over 16 as an option for preventing sickle cell crises. Crizanlizumab is a new intravenous treatment option that can be taken on its own or alongside hydroxycarbamide. In studies, crizanlizumab cut the number of crises people experienced by almost half.
Factors which can trigger sickling include:
So it can help to:
The vast majority of people who have a sickle cell crisis do not need to be admitted to hospital for treatment. If the pain is mild and there is no fever then it can be possible to be treated at home. Treatment usually involves:
People with SCD should try to avoid any potential triggers for a sickle cell crisis as much a possible. For example, try to keep warm in cold weather, try to avoid becoming dehydrated and take precautions if you undergo extreme exercise.
Blood transfusion is a useful treatment for some situations, such as acute chest syndrome or severe anaemia. It can also be used to help prevent or treat certain complications. The transfusion helps because it adds normal red blood cells to the blood. This corrects anaemia and reduces the effects of sickling. There are potential side-effects from blood transfusions such as iron overload and problems with the immune system. Therefore, transfusions are given for a specific need, rather than routinely.
For acute chest syndrome, some of the treatment is the same as for sickling episodes (above) - painkillers, hydration and antibiotics. Also, you may need a blood transfusion and oxygen. A type of chest physiotherapy called incentive spirometry also helps.
Hydroxycarbamide (also called hydroxyurea), taken regularly, may help to reduce the amount of symptoms such as pain episodes and acute chest syndrome. Hydroxycarbamide can have serious side-effects and needs monitoring with blood tests. It may be an option but you and your doctor need to think about the pros and cons of taking it.
Sickle cell disease (SCD) is a serious, inherited condition affecting the blood and various organs in the body. It affects the red blood cells, causing episodes of 'sickling', which produce episodes of pain and other symptoms. In between episodes of sickling, people with SCD are normally well. Long-term complications can occur. Good treatment, started early in life, can prevent complications. So, early diagnosis and specialist treatment are advised for SCD. Sickle cell Trait is not the same as sickle cell disease .
In SCD, the red blood cells have a tendency to go out of shape and become sickle-shaped (like a crescent moon) - instead of their normal disc shape. This can cause various problems - as described later. In between the episodes of illness, people with SCD feel well.
SCD is therefore a group of conditions that cause red cells to become sickle-shaped.
Sickle cell trait is not the same as SCD or sickle cell anaemia. Sickle cell trait means you carry a single sickle cell gene, but it does not normally cause illness. Read more about sickle cell trait.
The rest of this leaflet will discuss SCD, which includes sickle cell anaemia and the other less common disorders.
In the UK, about 12,500 people have SCD. It is more common in people whose family origins are African, African-Caribbean or (less commonly in the UK) Asian or Mediterranean. It is rare in people of North European origin. On average, 1 in 2,400 babies born in England have SCD, but rates are much higher in some urban areas - about 1 in 300 in some places.
SCD is now one of the most common inherited conditions in babies born in the UK.
The cause is inherited (genetic). It is a change in the genes which tell the body how to make an important protein called haemoglobin. To get SCD, you need to have two altered haemoglobin genes, one from each parent. If you only have one of these genes, you will have sickle cell trait, which is very much milder.
The most common type of SCD occurs where you have two sickle cell genes (sickle cell anaemia). The medical shorthand for this is haemoglobin SS (or HbSS). Other types of SCD involve one sickle cell gene plus another abnormal haemoglobin gene of a different type. These include: haemoglobin SC; haemoglobin S/beta thalassaemia; haemoglobin S/Lepore; haemoglobin SO Arab.
The symptoms, diagnosis and treatment are similar for all the sickle cell conditions.
Sickle cell genes affect the production of an important chemical called haemoglobin. Haemoglobin is located in red blood cells, which are part of the blood. Haemoglobin carries oxygen and gives blood its red colour.
The sickle cell genes make the body produce abnormal haemoglobin called HbS. (Normal haemoglobin is called HbA.) HbS behaves differently from HbA. Under certain conditions, HbS makes the red blood cells change shape - instead of the normal doughnut shape, they become sickle-shaped, like a crescent moon. This is called sickling. Conditions which trigger sickling are cold, infection, lack of fluid in the body (dehydration), low oxygen, and acid (acid is produced in hard physical exercise).
The sickle cells containing mostly HbS are harder and less flexible than normal red blood cells. So, they can get stuck in small blood vessels and block them. This can happen quite suddenly, causing various symptoms which are known as a sickle cell crisis (explained below). Repeated blockages can also lead to complications occurring.
The sickle cells are destroyed more easily than normal red blood cells. This means that people with SCD tend to be short of red blood cells and have a moderate and persistent anaemia. A moderate anaemia is not usually a problem because the HbS (the different haemoglobin) carries oxygen well, and the body can compensate. However, you may get bouts of severe anaemia for various reasons. For example, if too much blood goes to the spleen, if too many red blood cells break down at the same time, or due to certain infections which stop blood cells being made. A severe anaemia can make you very ill.
The diagnosis is made by a blood test. The blood sample is analysed to see what type of haemoglobin is present in the blood (using a test called haemoglobin electrophoresis or other methods). This can diagnose most cases of sickle cell trait and sickle cell disease (SCD). Sometimes, the result is unclear and extra tests such as DNA (genetic) tests are needed.
The diagnosis is made by a blood test. The blood sample is analysed to see what type of haemoglobin is present in the blood.
Symptoms of SCD come and go. Usually there are bouts (episodes) of symptoms but, in between episodes, you feel well. The reason that symptoms come and go is that the red blood cells can behave normally for much of the time - but if something makes too many of them sickle, the sickle cells cause symptoms. If there are severe and sudden symptoms due to sickling, this is called a sickle cell crisis.
There is a lot of individual variation in symptoms - how many and how often you get them. Some people with SCD have frequent symptoms, while others have very few and their SCD is hardly noticeable. For most people, symptoms are somewhere in between these two extremes. Most people with SCD have a few episodes of sickle cell crisis each year.
Symptoms usually begin after a few months of age. (Before that age, the baby has a different haemoglobin, called fetal haemoglobin, which is not affected by the sickle cell gene.)
The various symptoms that can occur if you have SCD include:
These are also called a pain crisis or a vaso-occlusive crisis. They occur when sickle cells block small blood vessels in bones, which causes pain. Pain usually occurs in bones and joints. The pain can vary from mild to severe, and may come on suddenly.
A common symptom in babies and young children is small bones in the fingers and toes becoming swollen and painful - this is known as dactylitis.
Episodes of tummy (abdominal) pain can occur if sickle cells block blood vessels in your abdomen.
This occurs when there are blocked blood vessels in the lungs and can sometimes occur with a lung infection.
The symptoms can include chest pain, high temperature (fever) and shortness of breath. Babies and young children may have more vague symptoms and look generally unwell, be lacking in energy (lethargic), be restless or have fast breathing. Acute chest syndrome is very serious and, if it is suspected, you should be treated urgently in hospital.
Acute chest syndrome can start a few days after a painful sickle crisis. It is most common in women who are pregnant or who have recently had a baby.
People with SCD are more prone to severe infections, particularly from certain types of germs (bacteria), which can cause pneumonia, meningitis, septicaemia or bone infections. (These include the pneumococcal, Haemophilus influenzae type b and meningococcal bacteria, and salmonella bacteria which can infect bones.) Symptoms of infection include fever, feeling generally ill, and pain in the affected part of the body.
Children with SCD have a high risk of getting severe or life-threatening infections. It is important to see a doctor quickly if you suspect an infection or feel unwell.
Note: a fever can occur in a sickle cell crisis without having an infection.
Anaemia is a lack of haemoglobin in the blood. As mentioned above, people with SCD will usually have a moderate anaemia, which does not usually cause problems. However, at times, people with SCD can get a severe anaemia, which can be serious. It may come on very suddenly or more gradually. Urgent treatment may be needed.
Symptoms of severe anaemia are:
As a rule, SCD cannot be cured, so lifelong treatment and monitoring are needed. There are a number of different treatments which help to prevent sickling episodes, or prevent related problems such as infection.
Stem cell transplant is the only available treatment that can cure SCD. It is only used for severe SCD. Its use is limited by side-effects of the procedure and the availability of suitable donors.
Crizanlizumab for preventing sickle cell crises in sickle cell disease
The National Institute for Health and Care Excellence (NICE) has recommended that specialist teams can apply to offer crizanlizumab to some patients over 16 as an option for preventing sickle cell crises. Crizanlizumab is a new intravenous treatment option that can be taken on its own or alongside hydroxycarbamide. In studies, crizanlizumab cut the number of crises people experienced by almost half.
Factors which can trigger sickling include:
So it can help to:
The vast majority of people who have a sickle cell crisis do not need to be admitted to hospital for treatment. If the pain is mild and there is no fever then it can be possible to be treated at home. Treatment usually involves:
People with SCD should try to avoid any potential triggers for a sickle cell crisis as much a possible. For example, try to keep warm in cold weather, try to avoid becoming dehydrated and take precautions if you undergo extreme exercise.
Blood transfusion is a useful treatment for some situations, such as acute chest syndrome or severe anaemia. It can also be used to help prevent or treat certain complications. The transfusion helps because it adds normal red blood cells to the blood. This corrects anaemia and reduces the effects of sickling. There are potential side-effects from blood transfusions such as iron overload and problems with the immune system. Therefore, transfusions are given for a specific need, rather than routinely.
For acute chest syndrome, some of the treatment is the same as for sickling episodes (above) - painkillers, hydration and antibiotics. Also, you may need a blood transfusion and oxygen. A type of chest physiotherapy called incentive spirometry also helps.
Hydroxycarbamide (also called hydroxyurea), taken regularly, may help to reduce the amount of symptoms such as pain episodes and acute chest syndrome. Hydroxycarbamide can have serious side-effects and needs monitoring with blood tests. It may be an option but you and your doctor need to think about the pros and cons of taking it.
An operation or anaesthetic is one of the things that can trigger sickling. Therefore, always tell your anaesthetist, surgeon and other healthcare staff that you have SCD, so that precautions can be taken to reduce the risk of sickling. For example, sometimes a blood transfusion before the operation or anaesthetic may be advised.
Growth, development and nutrition
As with any long-term illness, a child with SCD may grow more slowly than usual, or be undernourished if the illness affects their appetite. Your child's growth, development and nutrition should be checked regularly, and nutritional supplements may be given if needed.
Some children with SCD take longer than usual to gain control of their bladder at night, so may wet the bed (nocturnal enuresis). Various treatments can help.
For teenagers, puberty may start about 2-3 years later than average.
The growth of bones can also be affected. For example, there may be changes in the hip or shoulder joints due to blocked blood vessels in that part of the bone. If a joint is severely affected, surgery may be needed.
Stroke or brain injury
This is a serious complication and affects about 1 in 10 children or teenagers with SCD. If sickle cells block blood vessels in the brain, this may cause a stroke. There may be symptoms of stroke such as weakness of the face or limb, or speech difficulty. For some children, there may be no obvious symptoms. However, many tiny strokes may cause a subtle brain injury and make learning more difficult.
Strokes are treated with blood transfusion, which improves blood flow to the brain. Also, research has found that regular blood transfusions help to prevent strokes. An ultrasound test called a transcranial Doppler can be used to look at the blood flow to the brain. This helps doctors to decide whether your child needs blood transfusions for prevention. Children aged 3 years should be offered these scans.
Spleen problems
The spleen is an organ located in the tummy (abdomen), in the top left-hand side. Its function is to help the immune system. Sickle cells can block blood vessels in the spleen. This can make the spleen swell up suddenly with blood - in effect, it is like losing blood into the spleen. This is one cause of sudden and severe anaemia, when your child becomes suddenly ill. The medical term is splenic sequestration. It needs urgent treatment with a blood transfusion.
If this problem happens more than once then one option is surgery to remove the spleen. However, by adulthood the problem normally resolves because the spleen becomes hard (fibrosed) and cannot swell.
Parvovirus infection
Parvovirus is a common infection in childhood. Normally it causes a mild illness with high temperature (fever), flushed cheeks and a rash. With SCD, the virus can upset the bone marrow, which then stops making blood for a while. This causes a severe anaemia and needs treating with blood transfusions until the bone marrow recovers.
Complications of blood transfusions
Transfusions can cause blood reactions. These are less likely if the blood is carefully matched to your blood type. Infections such as hepatitis B and C can be transmitted by transfusion. This is less likely in the UK and countries where donor blood is tested for infections. Hepatitis B vaccination is also recommended.
Repeated blood transfusions can overload the body tissues with iron. You may need tests to measure the iron level in the body. If iron levels get high, you may need treatment called chelation, which helps the body get rid of excess iron.
Damage to various organs can develop gradually during teenage and adult years, due to repeated, small blockages of tiny blood vessels. The amount of complications varies from person to person.
Lungs, heart and kidneys
Any of these organs may suffer some damage. Therefore, you will normally be offered regular checks on your heart, lungs and kidney function. Various treatments can help.
Eyes
Regular eye checks are important. SCD may cause changes to blood vessels in the back of the eye (retina); this is called retinopathy. For retinopathy, laser treatment is given to prevent further damage.
Also, sickle cells may cause sudden blockage of a blood vessel in the eye. If this happens, you will have a sudden reduction in your vision. This needs immediate treatment. So, always see a doctor quickly if your vision reduces suddenly in any way.
Unwanted erections
Some teenage boys and men with SCD may get unwanted erections of the penis, which may be painful. The medical name for this is priapism. This can be quite brief but if an erection does not subside within one hour then urgent treatment is needed. There are various treatments to relieve or prevent unwanted erections.
Gallstones
Stones in the gallbladder are more common in people with SCD, and can cause bouts of pain in the upper right side of the abdomen. They may need treatment which is usually an operation to remove the gallbladder.
Leg ulcers
Leg ulcers can occur with SCD but are not common. Treatment is with dressings, and zinc supplements may help.
Complications of blood transfusions
These are explained above for children, and also apply to adults.
Sickle cell disease (SCD) is a serious condition which may shorten life. Without treatment, people with SCD may die in childhood, from problems such as infection. Good treatment makes a great difference. Improvements in treatment mean that life expectancy has increased.
Even with modern treatment, SCD can still cause serious or life-threatening problems. Dangerous problems are severe infection, acute chest syndrome and sudden severe anaemia. Awareness of symptoms and early treatment are important.
There is a lot of individual variation in the severity and outlook (prognosis) for SCD. Some people get very few problems from their SCD; others have more symptoms or more complications.
The treatment of sickle cell anaemia is a developing area of medicine. New treatments continue to be developed and the information on outlook above is very general. The specialist who knows your case can give more accurate information about the outlook for your particular situation.
 |
Thalassaemia is an inherited condition affecting the blood. There are different types, which vary from a mild condition with no symptoms, to a serious or life-threatening condition. For the more severe forms of thalassaemia, modern treatment gives a good outlook, but lifelong monitoring and treatment are needed. Good treatment is important to prevent complications developing. |
Thalassaemia is an inherited (genetic) condition affecting the blood. There are different types of thalassaemia. Depending on which type you have, thalassaemia may cause no illness at all, or may be a serious lifelong condition requiring treatment.
The cause is an inherited (genetic) change, involving the genes which tell the body how to make an important chemical called haemoglobin. Haemoglobin is the chemical which carries oxygen in the blood - it is the one which gives blood its red colour. Haemoglobin is located in cells called red blood cells which are part of the blood.
Haemoglobin is made out of different parts. The main parts are called alpha chains and beta chains which are put together to make the haemoglobin molecule. In thalassaemia, part of the haemoglobin is faulty - usually either the alpha chains or the beta chains. This means that some of the haemoglobin does not work properly. As a result, there is not enough normal haemoglobin and the red blood cells break down easily. This makes the person lacking in haemoglobin (anaemic), with various symptoms. Meanwhile, the body tries to make more haemoglobin and more red blood cells. So, the blood system goes into overproduction mode which can cause more symptoms and complications.
Depending on the type of thalassaemia, the amount of abnormal haemoglobin varies. It can be most of the body's haemoglobin, or only a small proportion. This is mainly what determines how severe the thalassaemia is. There are also other individual factors involved. So, two people with the same type of thalassaemia may have a different severity of illness from the same condition.
The main types of thalassaemia are called alpha thalassaemia and beta thalassaemia. (The alpha and beta refer to which haemoglobin gene is affected, and which of the haemoglobin chains is faulty.) There are some rarer types too.
Each type of thalassaemia (alpha and beta) is then classified into more types, according to how severe the condition is. This mainly depends on how many thalassaemia genes are involved. The mildest types are called thalassaemia trait (or thalassaemia minor). The more severe beta types are beta thalassaemia major (BTM) and beta thalassaemia intermedia (BTI). The more severe alpha forms are Hb Barts (very severe) and HbH disease (moderate). These are explained below. There are also some rarer types of thalassaemia such as delta beta thalassaemia, or combinations of a beta-thalassaemia gene with another abnormal haemoglobin gene such as HbE.
This means that you carry a thalassaemia gene but can still make enough normal haemoglobin. So, you will usually not have any symptoms or problems from the thalassaemia. You will not know you have it unless you have a special blood test. However, it can be useful to know your diagnosis because:
The different types of thalassaemia trait are:
A person with beta thalassaemia major (BTM) has two beta-thalassaemia genes (ie two abnormal beta-haemoglobin genes). Most of their haemoglobin is abnormal and does not work. This causes severe anaemia starting around the age of 4-6 months. Before that, the baby is not affected. This is because until age 3-6 months the baby makes a different type of haemoglobin, called fetal haemoglobin, which is not affected by the thalassaemia gene. With BTM, you need regular blood transfusions, plus other treatment to prevent complications.
As the name suggests, this type is less severe than BTM. You have two beta-thalassaemia genes but can make some haemoglobin which works reasonably well. This may be because your particular combination of thalassaemia genes is (in effect) less severe, or because of some other protective factor. Although less severe than thalassaemia major, thalassaemia intermedia does need regular monitoring for life and often needs some treatment to prevent complications.
This can occur if one parent has a beta-thalassaemia gene, and the other parent carries a gene for a different haemoglobin disorder called sickle cell anaemia. If their child inherits one of each gene, the combination is called sickle cell/beta thalassaemia - also called sickle cell disease. This condition behaves like sickle cell anaemia (not like thalassaemia) and is treated in the same way as sickle cell anaemia. See the FAQ about Sickle Cell for more detail.
This is a type of alpha thalassaemia. It is due to having three missing alpha-haemoglobin genes (normally each person has four of these genes). This can happen if one parent has alpha plus thalassaemia and the other has alpha zero thalassaemia. It usually causes a mild but persistent anaemia. Sometimes HbH causes more symptoms and is similar to BTI (explained below). Some people with HbH disease need blood transfusions.
This is the most severe form of thalassaemia, where all the alpha-haemoglobin genes are abnormal or missing. It occurs if a baby inherits two alpha zero thalassaemia genes. In this condition, no normal haemoglobin can be made, even before birth. It is the most serious form of thalassaemia - so serious that the baby will usually die in the womb from severe anaemia. There have been rare cases where the baby has been saved by blood transfusions being given in the womb, with the transfusions then continuing after birth.
Thalassemia affects about 4 in every 10,000 live births throughout the world.
A child inherits haemoglobin genes from both parents. For example, if both parents have beta-thalassaemia trait, there is: a 1 in 4 chance of the child having normal haemoglobin genes; a 1 in 2 chance of the child having beta-thalassaemia trait; and a 1 in 4 chance the child will have BTM or BTI.
The diagram below this sentance shows how Thalassamia is inherited from both parents.
Anyone may carry a thalassaemia gene. On average, 3 in 100 of the world's population have a thalassaemia gene (and therefore have a thalassaemia trait). The chance of having a thalassaemia gene varies, depending on your family origin. Thalassaemia is more common in people whose origins are Mediterranean, Asian or African.
For example, beta thalassaemia genes are carried by: 1 in 7 Greek Cypriots, 1 in 12 Turks, 1 in 20 Asians, 1 in 20-50 Africans/Afro-Caribbeans (depending on which part of Africa your family comes from) and 1 in 1,000 English of North European origin.
The diagnosis is made by a blood test. The blood sample is analysed to see what type of haemoglobin is present in the blood.
In some cases, extra tests such as DNA (genetic) tests are needed to diagnose the exact type of thalassaemia. It may help to test other family members where possible.
Thalassaemia trait may be suspected from the results of an ordinary blood test called a full blood count. If the result shows red blood cells that are smaller and paler than usual, this may be due to iron deficiency or to thalassaemia trait.
The rest of this leaflet explains more about beta thalassaemia major (BTM) and beta thalassaemia intermedia (BTI). These are the more common types of thalassaemia needing treatment.
Ideally, BTM will be diagnosed and treated early in order to prevent symptoms and reduce complications. So with good care, there may be few symptoms.
If untreated, symptoms of BTM start at around age 4-6 months. Symptoms come on gradually and are:
Without treatment, symptoms of BTM become gradually worse. Untreated, children with BTM usually die from infection or heart failure in childhood.
A possible cure is a stem cell transplant. This means either a bone marrow transplant, or a cord blood transplant. These treatments take normal blood-making cells from a donor, and give them to the person with thalassaemia. If the transplant is successful, these cells last for life and make normal haemoglobin - a lifelong cure. However, a stem cell transplant is not suitable for everyone. You need a suitable donor, and there are some serious risks involved. UK guidelines recommend that all BTM patients have the opportunity to discuss stem cell transplantation with a specialist. See the separate leaflet called Stem Cell Transplant for more details.
There are two main treatments: blood transfusions and chelation treatment.
Blood transfusions are started if you (or your child) have anaemia plus other symptoms, such as poor growth, not feeding well or other problems. If you only have anaemia and are otherwise doing well, your doctor may advise just monitoring the situation for a time. This is because some people thought to have BTM turn out to have the milder condition of BTI, and may not need transfusions.
Blood transfusions give normal red blood cells to the person with BTM. This corrects the anaemia for a while, which improves health and helps children to grow normally. However, the red blood cells have a limited lifespan. So, transfusions normally have to be repeated every 3-4 weeks.
Chelation treatment is important, to remove iron from the body. With thalassaemia, the body gets overloaded with iron. This is partly from blood transfusions, and also because the thalassaemia itself makes the body take up (absorb) more iron from food. If the excess iron is not removed, it can damage internal organs and cause complications. Chelation helps the body get rid of excess iron. This treatment is really important for preventing complications.
There are different forms of chelation: deferiprone (Ferriprox®) and deferasirox (Exjade®), which are taken by mouth; however, desferrioxamine (Desferal®) is given via a drip (an infusion inserted under the skin). Each form of chelation has its pros and cons, and sometimes combinations are used. Your doctor can discuss the options and help to decide which is most suited to you. Chelation is usually started within a year or two after starting transfusions.
Treatment for BTM should ideally be given by a specialist team who have experience in treating thalassaemia. If this is difficult because of where you live then a specialist should advise the doctors who are treating you, and you should be seen by a specialist at least once a year. Regular reviews and check-ups are really important, to ensure that your treatment matches your needs, to check for side-effects and to prevent complications.
A healthy lifestyle is also advised for thalassaemia. Avoid smoking and excess alcohol. Good nutrition and regular exercise can help. You may need extra vitamins, such as folic acid, vitamin D and zinc.
Complications of anaemia and transfusions
Untreated anaemia can affect growth and bone development because the bone marrow expands to try to make more blood cells. Anaemia can also cause an enlarged spleen (the spleen is an organ in the tummy (abdomen) which is part of the immune system). A large spleen can make anaemia worse, so you may need an operation to remove the spleen. If your spleen is removed, you will need extra immunisations and daily penicillin, to protect against certain infections (pneumococcal infection and meningitis).
Transfusions can cause blood reactions. These are less likely if the blood is very carefully matched to be as close as possible to your blood type. Infections such as hepatitis B and hepatitis C can be transmitted by transfusion. This is less likely in the UK and countries where donor blood is tested for infections. Hepatitis B immunisation is also recommended.
Complications of iron overload
Before chelation treatment, iron overload was a major problem for people with BTM. Chelation has reduced the complications of iron overload but they can still occur. So, you will need regular monitoring to check iron levels and possible complications.
Iron overload can damage various organs in the body - for example, the heart, liver, hormone glands, pancreas (causing diabetes) and bones. So you will need regular blood tests and scans to check the function of these organs. For children, growth and development are also monitored. If some organs are affected by iron overload, you may need increased chelation treatment or other treatments. If the hormone glands are affected, replacement hormones can be taken.
Complications of chelation
Chelation treatments have various possible side-effects. The side-effects may involve the blood, liver, kidneys, vision, hearing and bones. So, if you are having chelation, you will need regular blood and urine tests, plus checks for eyes, hearing and a child's growth. If you develop side-effects with chelation, the dose may need adjusting, or you may need a different chelator.
Infections
People with BTM can be more prone to serious bacterial infections (for various reasons). So, obtain medical advice quickly if you feel more unwell than usual, or if you have symptoms of infection such as a high temperature (fever). Certain types of infection (from species of germs (bacteria) called Yersinia and Klebsiella) are more common than usual, due to iron overload or chelation treatment. Yersinia causes tummy pain, diarrhoea and fever. Sometimes, this can mimic appendicitis. Klebsiella causes fever and severe illness. So obtain medical advice urgently if you have these symptoms. Tell doctors and nurses about your thalassaemia and the treatment you are taking. Non-specialist doctors should also contact your thalassaemia specialist for advice if you are unwell.
Bone problems
With BTM, bone problems can occur, due to the thalassaemia itself or from chelation treatment. Also, 'thinning' of the bones (osteoporosis) can occur at a younger age than usual. So, your growth (if a child) and bone health will need checking. A good intake of vitamin D and calcium helps to prevent osteoporosis. Various medications can help to treat osteoporosis. If your bones are severely affected, you may need specialist advice.
Untreated, BTM is a severe illness with worsening anaemia, infections and heart failure. Without treatment, this usually leads to death by the age of 5 years. With treatment, the outlook (prognosis) is good because anaemia and complications can be controlled by transfusions and chelation treatment. Nowadays, treatment of thalassaemia is usually successful, with patients living into adulthood and generally able to have careers, relationships and children.
The long-term outlook depends on how well complications can be prevented, particularly the iron overload. Early deaths can still occur, and children sometimes develop complications such as poor growth. What makes the most difference to the outlook is good chelation treatment. Also, patients treated at specialist centres have had better outcomes. Specialist treatment is now recommended for all thalassaemia patients in the UK.
The outlook will probably continue to improve, because of recent progress in chelation treatment.
BTI is like a milder form of BTM. The body can produce some functioning haemoglobin, but not as much as normal. So, you have a moderate level of anaemia, but the body can usually adjust to it without needing regular transfusions. You need to take an extra vitamin called folic acid, which helps the body make blood cells.
As with BTM, you will need regular check-ups and specialist advice, to monitor the anaemia and prevent complications.
Blood transfusions may be needed sometimes. For example, during pregnancy, before surgery, or if you have an infection (some infections can make the anaemia worse); also, if there are symptoms of anaemia, such as poor growth. Some people develop leg ulcers (due to anaemia), which can also be helped by transfusion.
Because of the anaemia, your spleen may enlarge, and an operation to remove the spleen may help (as explained above for BTM). Another possible treatment for the anaemia is a medication called hydroxycarbamide (hydroxyurea). It may help some patients but the benefits are uncertain and it can have serious side-effects.
People with BTI can have iron overload, similar to patients with BTM, although it may be less severe. This can happen, even if you do not have transfusions, because the thalassaemia causes extra iron to be absorbed from food. As with BTM, chelation treatment is important to remove excess iron and to prevent complications.
Other possible complications of BTI are: