Overview: - Thalassemia is an inherited blood disorder that causes your body to have less hemoglobin than normal. Hemoglobin enables red blood cells to carry oxygen. Thalassemia can cause anemia, leaving you fatigued.
If you have mild thalassemia, you might not need treatment. But more severe forms might require regular blood transfusions. You can take steps to cope with fatigue, such as choosing a healthy diet and exercising regularly.
SYMPTOMS: -
There are several types of thalassemia. The signs and symptoms you have depend on the type and severity of your condition.
Thalassemia signs and symptoms can include:
Some babies show signs and symptoms of thalassemia at birth; others develop them during the first two years of life. Some people who have only one affected hemoglobin gene don't have thalassemia symptoms.
INTRODUCTION: -
Thalassemia is an inherited (genetic) condition affecting the blood. There are different types of thalassemia. Depending on which type you have, thalassemia may cause no illness at all, or may be a serious lifelong condition requiring treatment.
CAUSES OF THALASSAEMIA: -
The cause is an inherited (genetic) change, involving the genes which tell the body how to make an important chemical called hemoglobin. Hemoglobin is the chemical which carries oxygen in the blood - it is the one which gives blood its red color. Hemoglobin is located in cells called red blood cells which are part of the blood.
Hemoglobin is made out of different parts. The main parts are called alpha chains and beta chains which are put together to make the hemoglobin molecule. In thalassemia, part of the hemoglobin is faulty - usually either the alpha chains or the beta chains. This means that some of the hemoglobin does not work properly.
As a result, there is not enough normal hemoglobin and the red blood cells break down easily. This makes the person lacking in hemoglobin (anemic), with various symptoms. Meanwhile, the body tries to make more hemoglobin 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 thalassemia, the amount of abnormal hemoglobin varies. It can be most of the body's hemoglobin, or only a small proportion. This is mainly what determines how severe the thalassemia is. There are also other individual factors involved. So, two people with the same type of thalassemia may have a different severity of illness from the same condition.
TYPES OF THALASSAEMIA: -
The main types of thalassemia are called alpha thalassemia and beta thalassemia. (The alpha and beta refer to which hemoglobin gene is affected, and which of the hemoglobin chains is faulty.) There are some rarer types too.
Each type of thalassemia (alpha and beta) is then classified into more types, according to how severe the condition is. This mainly depends on how many thalassemia genes are involved.
The mildest types are called thalassemia trait (or thalassemia minor).
The more severe beta types are beta thalassemia major (BTM) and beta thalassemia intermedia (BTI).
The more severe alpha forms are Hb Barts (very severe) and HbH disease (moderate).
There are also some rarer types of thalassemia such as delta beta thalassemia, or combinations of a beta-thalassemia gene with another abnormal hemoglobin gene such as HbE.
THALASSEMIA TRAIT: -
This means that you carry a thalassaemia gene but can still make enough normal haemoglobin. So, you will usually not have any or just relatively mild symptoms or problems from the thalassaemia. You may not know you have it unless you have a special blood test. However, it can be useful to know your diagnosis because:
Some types of thalassaemia trait give you a very mild type of anaemia, where your red blood cells are smaller and paler than usual (described in laboratory reports as 'microcytic and hypochromic'). This can be mistaken for iron deficiency.
Your children can inherit the gene. By itself this is not a problem. However, if your partner also has a similar gene, your children might get a double dose of the abnormal hemoglobin gene and could inherit a severe form of thalassemia. It is possible to arrange tests for parents or for an unborn baby, to see whether the baby could be affected.
THE DIFFERENT TYPES OF THALASSAEMIA TRAIT ARE:
Alpha plus thalassemia trait: Alpha plus thalassemia trait. This means that you have one missing alpha hemoglobin gene. (Normally there are four of these genes.) This trait can only cause a problem if your partner has alpha zero thalassemia trait - in which case your children might inherit HbH disease (explained below). Apart from that situation, it will not affect you or your children.
Alpha zero thalassemia trait: This means you have two missing alpha hemoglobin genes (out of the normal four alpha genes). It will not make you ill, but if your partner also has alpha zero thalassemia trait, your children might inherit a severe condition called Hb Barts (explained below). Or, if your partner has alpha plus thalassemia trait then your children might inherit HbH disease (see below).
Beta-thalassemia trait: - This means you have one abnormal beta-hemoglobin gene (out of the normal two beta genes). It will not make you ill. But, if your partner also has beta-thalassemia trait then your children could inherit BTM or BTI (see below). Beta-thalassemia trait can also interact with other abnormal hemoglobin genes which are not thalassemia's. For example, if your partner has a gene for sickle cell anemia then your children might inherit a serious condition called sickle cell/beta thalassemia (see below).
THALASSAEMIA MAJOR: -
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.
BETA THALASSAEMIA INTERMEDIA (BTI):-
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.
SICKLE CELL/BETA THALASSAEMIA: -
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 thalassaemia. This condition behaves like sickle cell anaemia (not like thalassaemia) and is treated in the same way as sickle cell anaemia. See the separate leaflet called Thalassaemia (Sickle Cell Anaemia) for more detail.
HBH DISEASE:-
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.
HB BARTS: -
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.
HOW COMMON IS THALASSAEMIA: -
Worldwide, thalassemia is one of the most common inherited diseases. However, the number of people with thalassemia is very variable between people from different parts of the world. It is much more common in people from the Mediterranean, Middle East, Central Asia, Indian Subcontinent, Far East and Africa. The highest recorded rates occur in Cyprus and Sardinia.
Beta thalassemia is common in areas around the Mediterranean, in the Middle East, in Central, South and Southeast Asia, and in Southern China.
Alpha thalassemia is common in Southeast Asia, Africa, and India.
The World Health Organization (WHO) estimates that about 3 people in every 200 of the world's population may be beta thalassemia carriers and that at least 60,000 severely affected people are born each year.
PEOPLE PRONE TO THALASSAEMIA: -
Anyone may carry a thalassemia gene. On average, 3 in 100 of the world's population have a thalassemia gene (and therefore have a thalassemia trait). The chance of having a thalassemia gene varies, depending on your family origin.
Thalassemia is most common in people whose family origins are Mediterranean or Asian. It can be diagnosed from a blood test. For example, beta thalassemia genes are carried by: 1 in 7 Greek Cypriots, 1 in 12 Turks, 1 in 20 Asians, 1 in 20-50 Africans/Afro-Caribbean's (depending on which part of Africa your family comes from) and 1 in 1,000 English of North European origin.
Pregnant women and couples planning a family are advised to have a test for thalassaemia, because early diagnosis can be helpful. In England, all pregnant women and newborn babies are now offered a thalassaemia test, but you can ask for a test before you become pregnant.
THALASSAEMIA TEST: The diagnosis is made by a blood test. The blood sample is analyzed to see what type of hemoglobin is present in the blood.
In some cases, extra tests such as DNA (genetic) tests are needed to diagnose the exact type of thalassemia. It may help to test other family members where possible.
Thalassemia 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 thalassemia trait.
TESTS FOR PREGNANT WOMEN: -
Policies for screening pregnant women and babies vary throughout the UK - see the UK Screening Portal link under 'Further Reading and References', below. If the result shows that you carry a thalassemia gene, then a test is also offered to the baby's father (if possible). The results of both parents' tests will help to decide whether the baby could be affected by thalassemia. The results will be explained to you.
If there is a chance that the baby could be affected, you will be offered counselling to discuss whether you would like to have a further test for the unborn baby (a prenatal test). This test finds out whether the unborn baby actually has thalassemia - and which type. You will be given information about how this could affect the baby. If the baby has a severe form of thalassemia, you will be offered counselling to discuss whether you want to continue with the pregnancy.
BEST TIME TO HAVE A TEST: -
If you are pregnant, the best time to have a thalassemia blood test for yourself is before you are 10 weeks pregnant. This allows more time to test your partner or your baby, if needed. You can ask your doctor for a test early in pregnancy, if it is not already offered to you at that time. However, tests can still be done at a later stage.
A prenatal test (on the unborn baby) can be done from 10 weeks of pregnancy onwards, depending on the type of test used. The usual tests offered are chorionic villus sampling (CVS) or amniocentesis.
DIAGNOSIS: -
Most children with moderate to severe thalassemia show signs and symptoms within their first two years of life. If your doctor suspects your child has thalassemia, he or she can confirm a diagnosis with blood tests.
Blood tests can reveal the number of red blood cells and abnormalities in size, shape or color. Blood tests can also be used for DNA analysis to look for mutated genes.
PRENATAL TESTING: - Testing can be done before a baby is born to find out if he or she has thalassemia and determine how severe it might be. Tests used to diagnose thalassemia in fetuses include:
CHORIONIC VILLUS SAMPLING: - Usually done around the 11th week of pregnancy, this test involves removing a tiny piece of the placenta for evaluation.
Amniocentesis Usually done around the 16th week of pregnancy, this test involves examining a sample of the fluid that surrounds the fetus.
Lifestyle and home remedies:- You can help manage your thalassemia by following your treatment plan and adopting healthy-living habits.
Avoid excess iron. Unless your doctor recommends it, don't take vitamins or other supplements that contain iron.
Eat a healthy diet. Healthy eating can help you feel better and boost your energy. Your doctor might also recommend a folic acid supplement to help your body make new red blood cells.
To keep your bones healthy, make sure your diet contains enough calcium and vitamin D. Ask your doctor what the right amounts are for you and whether you need a supplement.
Ask your doctor about taking other supplements, as well, such as folic acid. It's a B vitamin that helps build red blood cells.
Avoid infections. Wash your hands frequently and avoid sick people. This is especially important if you've had your spleen removed.
You'll also need an annual flu shot, as well as vaccines to prevent meningitis, pneumonia and hepatitis B. If you develop a fever or other signs and symptoms of an infection, see your doctor for treatment.
COPING AND SUPPORT:-
Coping with thalassemia, your own or your child's, can be challenging. Don't hesitate to ask for help. If you have questions or would like guidance, talk with a member of your health care team.
You might also benefit from joining a support group, which can provide both sympathetic listening and useful information. Ask a member of your health care team about groups in your area.
THALASSAEMIA CARRIERS: -
Thalassemia is the name for a group of inherited conditions that affect a substance in the blood called hemoglobin.
People with thalassemia produce either no or too little hemoglobin, which is used by red blood cells to carry oxygen around the body.
This can make them very anemic (tired, short of breath and pale).
It mainly affects people of Mediterranean, south Asian, southeast Asian and Middle Eastern origin.
There are different types of thalassemia, which can be divided into alpha and beta thalassemia's. Beta thalassemia major is the most severe type.
Other types include beta thalassemia intermedia, alpha thalassemia major and hemoglobin H disease.
It's also possible to be a "carrier" of thalassemia, also known as having the thalassemia trait.
Being a beta thalassemia carrier will not generally cause you any health problems, but you're at risk of having children with thalassemia.
MORE ABOUT BETA THALASSAEMIA: -
These are the more common types of thalassemia needing treatment.
Beta thalassemia
MAJOR THALASSEMIA SYMPTOMS
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:
Thalassaemia anaemia - the baby may be pale, lacking in energy (lethargic), not feeding or growing well, and prone to infections.
Bone symptoms - the body tries to produce more red blood cells. This is a natural reaction to anaemia. However, it does not help thalassaemia much because most of the haemoglobin that is produced is abnormal. The result is over-expansion of the bone marrow, which is the body's blood cell factory. This affects bone growth including the face and jaw bones, making the forehead and upper jaw very prominent.
Without treatment, symptoms of BTM become gradually worse. Untreated, children with BTM usually die from infection or heart failure in childhood.
COMPLICATIONS OF BTM AND THEIR PREVENTION: -
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 doctors advice.
THALASSEMIA SYNDROMES COMPLICATING PREGNANCY: -
-The thalassemia syndromes are the commonly found genetic disorders of the blood. The basic defect is a reduced rate of globin chain synthesis. As a result, the red cells being formed with an inadequate hemoglobin content. There is deficient erythropoiesis, hemolysis and ultimately anemia. The major syndromes are of two groups—the alpha or beta thalassemia depending on whether the alpha or the beta globin chain synthesis of the adult hemoglobin is depressed. α and β thalassemia exist in both the homozygous (major) and heterozygous (minor) states. Overall incidence during pregnancy is 1 in 300 to 500. Alpha thalassemia is distributed amongst South East Asia and China. Alpha thalassemia major is incompatible with life. α-peptide chain production is controlled by four genes, located on chromosome 16 (two on each copy). Depending upon the degree of deficient α-peptide chain synthesis, four clinical types of syndromes have been identified: -
Parental diagnosis: All forms of α-thalassemia can be diagnosed by CVS or amniocentesis.
HOMOEOPATHIC MEDICINES FOR MANAGING THALASSEMIA SYNDROMES: -
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