Thalassemia is a genetic (inherited) conditions affecting the blood. There are different types of thalassemia.

Beta Thalassemia

[Wolverhampton University]

Introduction

Thalassemia is a genetic (inherited) conditions affecting the blood. There are different types of thalassemia. Depending what you have, thalassemia can cause disease at all, or it could be a serious life condition requiring treatment.

What causes thalassemia?

The cause is genetic changes, including the genes that indicate the body as an important chemical called hemoglobin. Hemoglobin is a chemical which carries oxygen in the blood - is the one who gives blood its red color. Hemoglobin is in the cells, called "red blood cells, which are an integral part of blood. (Nassar, Rechdan, 2006) Hemoglobin is made from various parts. The main part is called "Alpha chains and beta chains, which are put together to make a molecule of hemoglobin. In thalassemia, a part of hemoglobin is damaged - usually either the alpha chain or beta-chain. This means that some of the hemoglobin is not working properly. As a result, not enough normal hemoglobin and red blood cells break down easily. This makes a person "anemic" (not in hemoglobin), with different symptoms. Meanwhile, the body trys to make more hemoglobin and red blood cells. Thus, the blood is in the 'surplus' mode, which can lead to symptoms and complications. (Nassar, Rechdan, 2006)

Depending on the type of thalassemia, the number of abnormal hemoglobin is different. This can be a big part of the body of hemoglobin, and only a small percentage. This is basically what determines how serious to have thalassemia. There are also other individual factors. Thus, two people with the same type of thalassemia may have different severity of the disease from one state. (Nassar, Rechdan, 2006)

Beta-thalassemia major

Anyone with beta-thalassemia major, two genes of beta-thalassemia. Most of their hemoglobin is abnormal and does not work. This leads to severe anemia, beginning around age 4-6 months. Until the child is not affected. This is because until the age of 3-6 months, the child makes a different type of hemoglobin called fetal hemoglobin, which are not affected by the gene of thalassemia. In beta-thalassemia major, you need regular blood transfusions, as well as another treatment to prevent complications. (Nassar, Rechdan, 2006)

Beta-thalassemia intermedia

As the name implies, this type is less severe than the beta-thalassemia major. Do you have a two-gene beta thalassemia, but can do some of hemoglobin, which works quite well. This may be because your particular combination of genes of thalassemia is (because of) less serious, or because some other protective factors. Although less severe than thalassemia major, thalassemia intermedia is a need to regularly monitor the life and often requires a specific treatment to prevent complications. (Aessopos, Meletis, 2007)

Sickle cell / beta-thalassemia

This can happen if one parent has the gene of beta-thalassemia, ...

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Beta-thalassemia intermedia

Sickle cell / beta-thalassemia

This can happen if one parent has the gene of beta-thalassemia, while the other parent has the gene of a hemoglobin disorder called sickle cell anemia. If a child inherits one of each gene, the combination is called a sickle cell / beta-thalassemia - also known as "sickle cell disease." This condition behaves as sickle-cell anemia (not like thalassemia), and is seen in the same manner as the sickle-cell anemia. See separate leaflet called "sickle-cell anemia and sickle-cell anemia 'for more information.

As beta-thalassemia major treated?

There are two main treatments: blood transfusion and chelation therapy. Blood transfusion started, if you (or your child) had anemia, as well as other symptoms such as poor growth, and not feeding well or other problems. If you only have anemia or other to do so, your doctor may recommend only monitoring the situation for some time. This is because some people believe BTM be able to have a mild beta-thalassemia intermedia, and may not need transfusions. (Aessopos, Meletis, 2007)

Blood transfusion given normal red blood cell-to-face with the BTM. This correction of anemia at some time, which improves health and helps children to develop normally. However, red blood cells have a limited lifespan. So, as a rule, the transfusion should be repeated every 3-4 weeks. Chelation therapy is important for the removal of iron from the body. In thalassemia, the body becomes overloaded with iron. This is partly from a blood transfusion, and because the thalassemia itself makes the body absorbs more iron from food. If excess iron is not removed, it can cause damage to internal organs and cause complications. Chelation helps the body rid itself of excess iron. This treatment is very important to prevent complications.

There are various forms of chelation: deferiprone (Ferriprox ®) and deferasirox (Exjade ®) are taken into the mouth, the desferrioxamine (Desferral ®) is given through an infusion of (a 'drip') inserted under the skin. Every form of chelation has its pros and cons, and sometimes a combination. Your doctor can discuss options and help you decide which is most suitable for you. Chelation usually begins within a year or two after the transfusion. (Aessopos, Meletis, 2007)

BTM Treatment should ideally be given by experts team who have experience in the treatment of thalassemia. If this is difficult because of where you live, you should consult specialist doctors who are treating you, and you should see a specialist at least once a year. Regular reviews and surveys, in fact, it is important that your treatment fit your needs, to check for side effects and prevent complications.

A healthy lifestyle is also recommended for thalassemia. Avoid smoking and excessive alcohol consumption. Good nutrition and regular exercise can help (there is a booklet on nutrition in the UK thalassemia Community Site - see further below). You may need extra vitamins, such as folic acid, vitamin D and zinc.

Complications of anemia and transfusion

Untreated anemia can affect the growth and development of bones, as bone marrow expanded to try to make more blood cells. Anemia may also result in splenomegaly (the spleen is an organ in the abdomen, which is part of the immune system). Big spleen disease may do even worse, so you may need surgery to remove the spleen. If your spleen removed, you may need additional vaccinations and daily penicillin to protect against certain infections (pneumococcal infection and meningitis).

Blood transfusions, can cause reactions. They are less likely if the blood is carefully matched to be as close as possible to your blood. Infections such as hepatitis B and C can be transmitted by transfusion. This is less than in the UK and the donor blood, which is tested for infection. Hepatitis B vaccination is also recommended.

Complications of iron overload

Before chelation therapy in iron overload is a serious problem for people with BTM. Chelation has reduced the complications of iron overload, but they can still happen. Thus, you will need regular monitoring to check levels of iron and possible complications.

Iron overload can cause damage to various organs in the body. For example: heart, liver, hormone glands, the pancreas (causing diabetes), and bones. Therefore, you need regular blood tests and checks to verify the function of these organs. For children, growth and development are also controlled. If any bodies are suffering from iron overload, you may need to increase the chelation therapy or other procedures. If the hormone glands suffer, replacement hormones can be taken. (Borgna, 2007)

Complications chelation

Chelation treatment have different possible side effects. Side effects may be associated with the blood, liver, kidneys, eyes, ears, and bones. So, if you are having chelation, you will need regular blood and urine, as well as checks for eye, hearing and growth of the child. If you get a side effect from chelation, the dose may need adjustment, or you may need another chelator. (Borgna, 2007)

Infections

People with BTM may be more prone to serious bacterial infection (for different reasons). Therefore, to get medical advice quickly if you feel more unwell than usual, or if you have symptoms of infection such as fever. Some types of infection (from bacteria and called Yersinia Klebsiella) are more prevalent than usual, due to iron overload or chelation therapy. Yersinia causes abdominal (stomach) pain, diarrhea and fever. Sometimes it can mimic appendicitis. Klebsiella causes fever and severe illness. Therefore, to obtain medical advice urgently if you have these symptoms. (Borgna, 2007) Tell the doctors and nurses about the treatment of thalassemia, and you are taking. Non-specialist physicians as thalassemia should consult a specialist for advice if you are unwell.

Bone problems

With BTM, bone problems may arise in connection with thalassemia itself or with chelation therapy. In addition, osteoporosis (thinning of the bones) can occur at a younger age than usual. Thus, your growth (if one child) and bone health will require verification. Good reception of vitamin D and calcium helps prevent osteoporosis. Various medications may help treat osteoporosis. If your bones were severely damaged, you may need to consult specialists. (Borgna, 2007)

What are the prospects for BTM?

Untreated, BTM is a severe disease with worsening anemia, infections and heart failure. Without treatment, this usually leads to death before the age of five. In his address, the perspective is good because of anemia and complications can be controlled by transfusion and chelation therapy. Currently, the treatment of thalassemia, usually successfully, with patients living into adulthood and, in general, can be career, relationships and children. (Borgna, 2007) In the long run depends on how well the complications can be prevented, in particular iron overload. Early death may occur, and children sometimes develop complications such as poor growth. What makes the most difference in Outlook good chelation therapy. In addition, patients treated at the Center specialists have better outcomes. Specialist treatment is now recommended for all patients with thalassemia in the UK. In the future, probably will continue to improve because of recent advances in chelation treatment.

References

Aessopos, A, Kati, M, Meletis, J. Thalassemia intermedia today: should patients regularly receive transfusions?. Transfusion 2007; 47:792.

Borgna-Pignatti, C. Modern treatment of thalassaemia intermedia. Br J Haematol 2007; 138:291.

Nassar, AH, Usta, IM, Rechdan, JB, et al. Pregnancy in patients with beta-thalassemia intermedia: outcome of mothers and newborns. Am J Hematol 2006; 81:499.