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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.

Zinc supplements for thalassaemia and sickle cell disease

Zinc is an essential micronutrient, which is needed so that the immune system works at its best and helps the body fight off infection. People may not get enough zinc from food alone. Researchers have therefore looked at zinc supplements as a way of reducing anaemia and preventing infections and complications. The review authors searched the medical literature for randomised controlled studies in which people with sickle cell disease or thalassaemia received either zinc supplements or no supplements. We included nine trials in the review (459 participants). In people with thalassaemia, there is no evidence to indicate any benefit of zinc supplements on serum zinc level. However, there was an improvement in height in those who received the supplements. There is mixed evidence on the benefit of using zinc supplements in people with sickle cell disease. For instance, there is evidence that when supplements are given for one year the serum zinc levels increased; however, haemoglobin levels and body mass index did not differ significantly between groups. We also found that people with sickle cell disease who received zinc supplements (at both three months and at one year) had fewer sickle cell crises and infections. However, given that the total number of trials is small, these results should be treated with caution.

The use of the iron chelator deferiprone in people with thalassaemia who are dependent on blood transfusions

In thalassaemia sometimes the body cannot produce enough haemoglobin. Regular blood transfusions can manage this, but may lead to excess iron in the body, which, if not removed, may damage major organs. Iron chelation therapy removes excess iron; one common chelator is deferiprone. Questions exist about whether deferiprone is as good and safe as the most widely‐used iron chelator, desferrioxamine. Desferrioxamine is administered by a needle under the skin or into a vein, and was the standard monotherapy for 20 years.

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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.

Zinc supplements for thalassaemia and sickle cell disease

Zinc is an essential micronutrient, which is needed so that the immune system works at its best and helps the body fight off infection. People may not get enough zinc from food alone. Researchers have therefore looked at zinc supplements as a way of reducing anaemia and preventing infections and complications. The review authors searched the medical literature for randomised controlled studies in which people with sickle cell disease or thalassaemia received either zinc supplements or no supplements. We included nine trials in the review (459 participants). In people with thalassaemia, there is no evidence to indicate any benefit of zinc supplements on serum zinc level. However, there was an improvement in height in those who received the supplements. There is mixed evidence on the benefit of using zinc supplements in people with sickle cell disease. For instance, there is evidence that when supplements are given for one year the serum zinc levels increased; however, haemoglobin levels and body mass index did not differ significantly between groups. We also found that people with sickle cell disease who received zinc supplements (at both three months and at one year) had fewer sickle cell crises and infections. However, given that the total number of trials is small, these results should be treated with caution.

The use of the iron chelator deferiprone in people with thalassaemia who are dependent on blood transfusions

In thalassaemia sometimes the body cannot produce enough haemoglobin. Regular blood transfusions can manage this, but may lead to excess iron in the body, which, if not removed, may damage major organs. Iron chelation therapy removes excess iron; one common chelator is deferiprone. Questions exist about whether deferiprone is as good and safe as the most widely‐used iron chelator, desferrioxamine. Desferrioxamine is administered by a needle under the skin or into a vein, and was the standard monotherapy for 20 years.

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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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