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Thalassemias

Thalassemias are inherited blood disorders. Thalassemias cause the body to make fewer healthy red blood cells and less hemoglobin than normal. Hemoglobin is an iron-rich protein in red blood cells.

PubMed Health Glossary
(Source: NIH - National Heart, Lung, and Blood Institute)

Thalassemias

Thalassemias (thal-a-SE-me-ahs) are inherited blood disorders. "Inherited" means that the disorder is passed from parents to children through genes.

Thalassemias cause the body to make fewer healthy red blood cells and less hemoglobin (HEE-muh-glow-bin) than normal. Hemoglobin is an iron-rich protein in red blood cells. It carries oxygen to all parts of the body. Hemoglobin also carries carbon dioxide (a waste gas) from the body to the lungs, where it's exhaled.

People who have thalassemias can have mild or severe anemia (uh-NEE-me-uh). Anemia is caused by a lower than normal number of red blood cells or not enough hemoglobin in the red blood cells.

Overview

Normal hemoglobin, also called hemoglobin A, has four protein chains—two alpha globin and two beta globin. The two major types of thalassemia, alpha and beta, are named after defects in these protein chains.

Four genes (two from each... Read more about Thalassemias

What works? Research summarized

Evidence reviews

Using psychological treatments to help people manage thalassaemia

Thalassaemia is a group of genetic blood disorders. Blood transfusion is needed to treat severe forms of the condition, but this results in a high level of iron in the body. This excess iron is usually removed by drugs through 'chelation therapy'. Other less usual treatments are bone marrow transplantation, which is restricted by age, and hydroxyurea, a drug designed to raise the level of foetal haemoglobin and reduce anaemia. Psychological support would seem suitable to manage thalassaemia which is a chronic disease with a considerable role for self‐management. We were not able to find any trials to include in this review. There are some reports that teaching people about their condition improves adherence to chelation therapy. However, from the information currently available, we can not recommend the use of specific psychological therapies in thalassaemia. We believe there is a need for large trials to assess the value of psychological therapies for thalassaemia.

Deferasirox for managing transfusional iron overload in people with thalassaemia

Thalassaemia is a hereditary anaemia due to a defect in the production of haemoglobin. Regular red blood cell transfusions are needed, particularly for the severe form of the disease, thalassaemia major. This results in secondary iron overload. Since the human body has no means of actively getting rid of excessive iron, drug treatment (iron chelators) is needed. Several years ago, a new oral iron chelator, deferasirox, was introduced. However, it is not known whether deferasirox offers advantages compared to deferoxamine or deferiprone with regard to effectiveness and safety.

Transplantation of blood‐forming stem cells for people with ß‐thalassaemia major

Thalassaemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form of haemoglobin (the protein in red blood cells that carries oxygen). The disorder results in excessive destruction of red blood cells, which, without blood transfusions, leads to anaemia and causes significant mortality and morbidity. The anaemia can be treated effectively with regular blood transfusions. However, these lead to the accumulation of iron, which, unless treated with regular iron chelation, causes multiorgan disease and early death. Although ß‐thalassaemia major responds to this conventional treatment to correct haemoglobin status, the treatment does not provide a cure. The use of hematopoietic (blood‐forming) stem cell transplantation involves replacing the unhealthy hematopoietic stem cells with normal hematopoietic stem cells from a healthy donor. These stem cells then produce normal red blood cells containing normal amounts of globin chains. Stem cells can be derived from either the bone marrow or blood (umbilical cord blood or peripheral blood) of a healthy individual. The review authors did not find any randomised controlled trials assessing the effectiveness and safety of different types of stem cell transplantation in people with severe transfusion‐dependant ß‐thalassaemia major or ß0/+‐ thalassaemia variants requiring chronic blood transfusion.

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Summaries for consumers

Using psychological treatments to help people manage thalassaemia

Thalassaemia is a group of genetic blood disorders. Blood transfusion is needed to treat severe forms of the condition, but this results in a high level of iron in the body. This excess iron is usually removed by drugs through 'chelation therapy'. Other less usual treatments are bone marrow transplantation, which is restricted by age, and hydroxyurea, a drug designed to raise the level of foetal haemoglobin and reduce anaemia. Psychological support would seem suitable to manage thalassaemia which is a chronic disease with a considerable role for self‐management. We were not able to find any trials to include in this review. There are some reports that teaching people about their condition improves adherence to chelation therapy. However, from the information currently available, we can not recommend the use of specific psychological therapies in thalassaemia. We believe there is a need for large trials to assess the value of psychological therapies for thalassaemia.

Deferasirox for managing transfusional iron overload in people with thalassaemia

Thalassaemia is a hereditary anaemia due to a defect in the production of haemoglobin. Regular red blood cell transfusions are needed, particularly for the severe form of the disease, thalassaemia major. This results in secondary iron overload. Since the human body has no means of actively getting rid of excessive iron, drug treatment (iron chelators) is needed. Several years ago, a new oral iron chelator, deferasirox, was introduced. However, it is not known whether deferasirox offers advantages compared to deferoxamine or deferiprone with regard to effectiveness and safety.

Transplantation of blood‐forming stem cells for people with ß‐thalassaemia major

Thalassaemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form of haemoglobin (the protein in red blood cells that carries oxygen). The disorder results in excessive destruction of red blood cells, which, without blood transfusions, leads to anaemia and causes significant mortality and morbidity. The anaemia can be treated effectively with regular blood transfusions. However, these lead to the accumulation of iron, which, unless treated with regular iron chelation, causes multiorgan disease and early death. Although ß‐thalassaemia major responds to this conventional treatment to correct haemoglobin status, the treatment does not provide a cure. The use of hematopoietic (blood‐forming) stem cell transplantation involves replacing the unhealthy hematopoietic stem cells with normal hematopoietic stem cells from a healthy donor. These stem cells then produce normal red blood cells containing normal amounts of globin chains. Stem cells can be derived from either the bone marrow or blood (umbilical cord blood or peripheral blood) of a healthy individual. The review authors did not find any randomised controlled trials assessing the effectiveness and safety of different types of stem cell transplantation in people with severe transfusion‐dependant ß‐thalassaemia major or ß0/+‐ thalassaemia variants requiring chronic blood transfusion.

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Terms to know

Anemia
A condition caused when the body does not have enough red blood cells or hemoglobin. Hemoglobin is a protein in the blood that carries oxygen.
Blood
A tissue with red blood cells, white blood cells, platelets, and other substances suspended in fluid called plasma. Blood takes oxygen and nutrients to the tissues, and carries away wastes.
Cells
The basic subunit of any living organism; the simplest unit capable of independent life. Although there are some single-celled organisms, such as bacteria, most organisms consist of many cells that are specialized for particular functions.
Genetic
Inherited; having to do with information that is passed from parents to offspring through genes in sperm and egg cells.
Hemoglobin
A protein inside red blood cells that carries oxygen from the lungs to tissues and organs in the body and carries carbon dioxide back to the lungs.
Iron
An important mineral the body needs to make hemoglobin, a substance in the blood that carries oxygen from the lungs to tissues throughout the body. Iron is also an important part of many other proteins and enzymes needed by the body for normal growth and development. It is found in red meat, fish, poultry, lentils, beans, and foods with iron added, such as cereal.
Iron-Deficiency Anemia
Iron-deficiency anemia is a common, easily treated condition that occurs if you don't have enough iron in your body. Low iron levels usually are due to blood loss, poor diet, or an inability to absorb enough iron from food.
Proteins
A molecule made up of amino acids. Proteins are needed for the body to function properly. They are the basis of body structures, such as skin and hair, and of other substances such as enzymes, cytokines, and antibodies.
Red Blood Cells (Erythrocytes)
A cell that carries oxygen to all parts of the body.

More about Thalassemias

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Also called: Thalassaemias, Thalassaemia, Thalassemia

See Also: Blood Tests

Other terms to know: See all 9
Anemia, Blood, Cells

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