?What Is Thalassemia   Thalassemia is an inherited blood disorder    that causes mild or severe anemia (uh-NEE-    me-uh)...
   In people with thalassemia, the genes that    code for hemoglobin are missing or    variant (different than the normal...
The two main types of thalassemia   alpha and beta, are named for the two protein    chains that make up normal hemoglobi...
Alpha thalassemia   occurs when one or more of the four genes    needed for making the alpha globin chain of    hemoglobi...
Beta thalassemia   occurs when one or both of the two genes    needed for making the beta globin chain of    hemoglobin a...
Alpha Thalassemias   Alpha thalassemia “silent carrier”   Mild alpha thalassemia, also called alpha    thalassemia minor...
Beta Thalassemias   Beta thalassemia minor, also called    thalassemia minor or thalassemia trait   Beta thalassemia int...
Cooley ’s anemia   Cooley’s anemia is another name for the    severe form of beta thalassemia. The name is    sometimes u...
   Thalassemia is caused by variant or missing    genes that affect how the body makes    hemoglobin. Hemoglobin is the p...
   Many possible combinations of variant genes    cause the various types of thalassemia.    Thalassemia is always inheri...
   Hemoglobin includes two kinds of protein    chains called alpha globin chains and beta    globin chains. If the proble...
Alpha ThalassemiaFour genes are involved in making the alpha globin part of hemoglobin—two from each parent. Alpha thalass...
   People with only one gene affected are called    silent carriers and have no sign of illness.   People with two genes...
   If two people with alpha thalassemia trait    (carriers) have a child, the baby could have    a mild or severe form of...
Beta ThalassemiaTwo genes are involved in making the beta globin part of hemoglobin—one from each parent. Beta thalassemia...
   If one gene is affected, a person is a carrier and    has mild anemia. This condition is called beta    thalassemia tr...
If two people with beta thalassemia trait (carriers) have a               :baby, one of three things can happen   The bab...
?Who Is At Risk for Thalassemia1.   Thalassemia is passed from parents to children     through their genes.2.   Thalassemi...
What Are the Signs and Symptoms of           ?Thalassemia   The symptoms of thalassemia depend on the    type and severit...
   “Silent carriers” and persons with alpha    thalassemia trait or beta thalassemia trait    (also called carriers) usua...
In more severe types of thalassemia, such as Cooley’s anemia,     signs of the severe anemia are seen in early childhood a...
   Babies with all four genes affected (a condition    called alpha thalassemia major, or hydrops fetalis)    usually die...
?How Is Thalassemia Diagnosed1.   Thalassemia is diagnosed using blood tests, including a     complete blood count (CBC) a...
Cooley’s anemia   is usually diagnosed in early childhood because of    signs and symptoms, including severe anemia.    S...
   To distinguish anemia caused by iron deficiency    from anemia caused by thalassemia, tests of the    amount of iron i...
   Family genetic studies are also helpful in    diagnosing thalassemia. This involves    taking a family history and doi...
?How Is Thalassemia TreatedTreatment for thalassemia depends on the type and severity  of the disease. People who are car...
Those with severe thalassemia have aserious and life-threatening illness. Theyare treated with regular blood transfusions,...
1. Blood Transfusions   Severe forms of thalassemia are treated by    regular blood transfusions. A blood    transfusion,...
   Transfusion therapy, while lifesaving, is    expensive and carries a risk of transmitting viral    and bacterial disea...
2-Iron Chelation Therapy   Iron chelation therapy uses medicine to    remove the excess iron that builds up in the    bod...
   The medicine, deferoxamine (deh-fer-ROX-uh-    meen), works best when given slowly under the    skin, usually with a s...
Surgery-3   Surgery may be needed if body organs, such as    the spleen or gall bladder, are affected. For    example, if...
A-Bone Marrow or Stem Cell               Transplants   Bone marrow or stem cell transplants have    been used successfull...
Other Treatments-4   People with severe thalassemia are more likely    to get infections that can worsen their anemia.   ...
Gene therapy-5   Someday, it may be possible to cure    thalassemia in an unborn child by inserting a    normal gene into...
Fetal hemoglobin-6   Researchers are studying ways to enhance    production of fetal hemoglobin in people with    thalass...
How Can Thalassemia Be Prevented?   Although thalassemia cannot be prevented,    it can be identified before birth by pre...
Living With Thalassemia1.   The Cooley’s Anemia Foundation offers     support to people with various types of     thalasse...
   Follow your treatment plan. See your doctor regularly    for checkups and treatment.   If you must have regular blood...
Key Points   Thalassemia is an inherited blood disorder that    can cause mild to severe anemia.   Thalassemia involves ...
   Two main types of thalassemia are alpha and    beta thalassemia. Alpha thalassemia occurs    when there is a problem w...
   The most common severe form of thalassemia    seen in the United States is beta thalassemia    major, or Cooley’s anem...
   Severe thalassemia is treated with frequent    blood transfusions and iron chelation    therapy to remove excess iron ...
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What is thalassemia

  1. 1. ?What Is Thalassemia Thalassemia is an inherited blood disorder that causes mild or severe anemia (uh-NEE- me-uh). The anemia is due to reduced hemoglobin (HEE-muh-glow-bin) and fewer red blood cells than normal. Hemoglobin is the protein in red blood cells that carries oxygen to all parts of the body.
  2. 2.  In people with thalassemia, the genes that code for hemoglobin are missing or variant (different than the normal genes). Severe forms of thalassemia are usually diagnosed in early childhood and are lifelong conditions.
  3. 3. The two main types of thalassemia alpha and beta, are named for the two protein chains that make up normal hemoglobin. The genes for each type of thalassemia are passed from parents to their children. Alpha and beta thalassemias have both mild and severe forms.
  4. 4. Alpha thalassemia occurs when one or more of the four genes needed for making the alpha globin chain of hemoglobin are variant or missing. Moderate to severe anemia results when more than two genes are affected. The most severe form of alpha thalassemia is known as alpha thalassemia major. It can result in miscarriage.
  5. 5. Beta thalassemia occurs when one or both of the two genes needed for making the beta globin chain of hemoglobin are variant. The severity of illness depends on whether one or both genes are affected and the nature of the abnormality. If both genes are affected, anemia can range from moderate to severe. The severe form of beta thalassemia is also known as Cooley’s anemia. Cooley’s anemia is the most common severe form of thalassemia in the United States.
  6. 6. Alpha Thalassemias Alpha thalassemia “silent carrier” Mild alpha thalassemia, also called alpha thalassemia minor or alpha thalassemia trait Hemoglobin H disease Hydrops fetalis, or alpha thalassemia major
  7. 7. Beta Thalassemias Beta thalassemia minor, also called thalassemia minor or thalassemia trait Beta thalassemia intermedia, also called thalassemia intermedia or mild Cooley’s anemia Beta thalassemia major, also called thalassemia major or Cooley’s anemia Mediterranean anemia
  8. 8. Cooley ’s anemia Cooley’s anemia is another name for the severe form of beta thalassemia. The name is sometimes used to refer to any type of thalassemia that requires treatment with regular blood transfusions.
  9. 9.  Thalassemia is caused by variant or missing genes that affect how the body makes hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. People with thalassemia make less hemoglobin and fewer circulating red blood cells than normal. The result is mild or severe anemia
  10. 10.  Many possible combinations of variant genes cause the various types of thalassemia. Thalassemia is always inherited (passed from parents to children). People with moderate to severe forms of thalassemia received variant genes from both parents. A person who inherits a thalassemia gene or genes from one parent and normal genes from the other parent is a carrier (thalassemia trait). Carriers often have no signs of illness other than mild anemia, but they can pass the variant genes on to their children.
  11. 11.  Hemoglobin includes two kinds of protein chains called alpha globin chains and beta globin chains. If the problem is with the alpha globin part of hemoglobin, the disorder is alpha thalassemia. If the problem is with the beta globin part, it is called beta thalassemia. There are both mild and severe forms of alpha and beta thalassemia. Severe beta thalassemia is often called Cooley’s anemia.
  12. 12. Alpha ThalassemiaFour genes are involved in making the alpha globin part of hemoglobin—two from each parent. Alpha thalassemia occurs when one or more of these genes is variant or missing.
  13. 13.  People with only one gene affected are called silent carriers and have no sign of illness. People with two genes affected (called alpha thalassemia trait, or alpha thalassemia minor) have mild anemia and are considered carriers. People with three genes affected have moderate to severe anemia, or hemoglobin H disease. Babies with all four genes affected (a condition called alpha thalassemia major, or hydrops fetalis) usually die before or shortly after birth.
  14. 14.  If two people with alpha thalassemia trait (carriers) have a child, the baby could have a mild or severe form of alpha thalassemia or could be healthy.
  15. 15. Beta ThalassemiaTwo genes are involved in making the beta globin part of hemoglobin—one from each parent. Beta thalassemia occurs when one or both of the two genes are variant.
  16. 16.  If one gene is affected, a person is a carrier and has mild anemia. This condition is called beta thalassemia trait, or beta thalassemia minor. If both genes are variant, a person may have moderate anemia (beta thalassemia intermedia, or mild Cooley’s anemia) or severe anemia (beta thalassemia major, or Cooley’s anemia). Cooley’s anemia, or beta thalassemia major, is a rare condition. A survey in 1993 found 518 Cooley’s anemia patients in the United States. Most of these persons had the severe form of the illness, but there may be more who are not diagnosed.
  17. 17. If two people with beta thalassemia trait (carriers) have a :baby, one of three things can happen The baby could receive two normal genes (one from each parent) and have normal blood (1 in 4 chance, or 25 percent). The baby could receive one normal gene from one parent and one variant gene from the other parent and have thalassemia trait (2 in 4 chance, or 50 percent). The baby could receive two thalassemia genes (one from each parent) and have a moderate to severe form of the disease (1 in 4 chance, or 25 percent).
  18. 18. ?Who Is At Risk for Thalassemia1. Thalassemia is passed from parents to children through their genes.2. Thalassemia affects both males and females.3. Beta thalassemias affect people of Mediterranean origin or ancestry (Greek, Italian, Middle Eastern) and people of Asian and African descent.4. Alpha thalassemias mostly affect people of Southeast Asian, Indian, Chinese, or Filipino origin or ancestry.
  19. 19. What Are the Signs and Symptoms of ?Thalassemia The symptoms of thalassemia depend on the type and severity of the disease. Symptoms occur when not enough oxygen gets to various parts of the body due to low hemoglobin and a shortage of red blood cells in the blood (anemia).
  20. 20.  “Silent carriers” and persons with alpha thalassemia trait or beta thalassemia trait (also called carriers) usually have no symptoms. Those with alpha or beta thalassemia trait often have mild anemia that may be found by a blood test.
  21. 21. In more severe types of thalassemia, such as Cooley’s anemia, signs of the severe anemia are seen in early childhood and :may include1. Fatigue (feeling tired) and weakness2. Pale skin or jaundice (yellowing of the skin)3. Protruding abdomen, with enlarged spleen and liver4. Dark urine5. Abnormal facial bones and poor growth
  22. 22.  Babies with all four genes affected (a condition called alpha thalassemia major, or hydrops fetalis) usually die before or shortly after birth
  23. 23. ?How Is Thalassemia Diagnosed1. Thalassemia is diagnosed using blood tests, including a complete blood count (CBC) and special hemoglobin studies.2. A CBC provides information about the amount of hemoglobin and the different kinds of blood cells, such as red blood cells, in a sample of blood. People with thalassemia have fewer red blood cells than normal and less hemoglobin than normal in their blood. Carriers of the trait may have slightly small red blood cells as their only sign.3. Hemoglobin studies measure the types of hemoglobin in a blood sample.
  24. 24. Cooley’s anemia is usually diagnosed in early childhood because of signs and symptoms, including severe anemia. Some people with milder forms of thalassemia may be diagnosed after a routine blood test shows that they have anemia. Doctors suspect thalassemia if a child has anemia and is a member of an ethnic group that is at risk for thalassemia.
  25. 25.  To distinguish anemia caused by iron deficiency from anemia caused by thalassemia, tests of the amount of iron in the blood may be done. Iron- deficiency anemia occurs because the body doesn’t have enough iron for making hemoglobin. The anemia in thalassemia occurs not because of a lack of iron, but because of a problem with either the alpha globin chain or the beta globin chain of hemoglobin. Iron supplements do nothing to improve the anemia of thalassemia, because missing iron is not the problem.
  26. 26.  Family genetic studies are also helpful in diagnosing thalassemia. This involves taking a family history and doing blood tests on family members. Prenatal testing can determine if an unborn baby has thalassemia and how severe it is likely to be.
  27. 27. ?How Is Thalassemia TreatedTreatment for thalassemia depends on the type and severity of the disease. People who are carriers (they have thalassemia trait) usually have no symptoms and need no treatment. Those with moderate forms of thalassemia (for example, thalassemia intermedia) may need blood transfusions occasionally, such as when they are experiencing stress due to an infection. If a person with thalassemia intermedia worsens and needs regular transfusions, he or she is no longer considered to have thalassemia intermedia; instead, the person is said to have thalassemia major, or Cooley’s anemia.
  28. 28. Those with severe thalassemia have aserious and life-threatening illness. Theyare treated with regular blood transfusions,iron chelation (ke-LAY-shun) therapy, andbone marrow transplants. Withouttreatment, children with severe thalassemiado not live beyond early childhood. Peoplewith severe thalassemia who are able tocontinue therapy successfully may liveinto their thirties, forties, and beyond.
  29. 29. 1. Blood Transfusions Severe forms of thalassemia are treated by regular blood transfusions. A blood transfusion, given through a needle in a vein, provides blood containing normal red blood cells from healthy donors. In thalassemia treatment, blood transfusions are done on a schedule (often every 2–4 weeks) to keep hemoglobin levels and red blood cell numbers at normal levels. Transfusion therapy can allow a person with severe thalassemia to feel better, enjoy normal activities, and live longer.
  30. 30.  Transfusion therapy, while lifesaving, is expensive and carries a risk of transmitting viral and bacterial diseases (for example, hepatitis). Transfusion also leads to excess iron in the blood (iron overload), which can damage the liver, heart, and other parts of the body. To prevent damage, iron chelation therapy is needed to remove excess iron from the body.
  31. 31. 2-Iron Chelation Therapy Iron chelation therapy uses medicine to remove the excess iron that builds up in the body when a person has frequent blood transfusions. If the iron is not removed, it damages body organs, such as the heart and liver.
  32. 32.  The medicine, deferoxamine (deh-fer-ROX-uh- meen), works best when given slowly under the skin, usually with a small portable pump overnight. This therapy is demanding and sometimes is mildly painful, so some people stop chelation therapy. A pill form of iron chelation therapy, deferasirox, was approved in November 2005 for use in the United States. People who have iron overload should not take vitamins or other supplements that contain iron.
  33. 33. Surgery-3 Surgery may be needed if body organs, such as the spleen or gall bladder, are affected. For example, if the spleen becomes inflamed and enlarged, it may be removed. If gallstones develop, the gall bladder may be removed.
  34. 34. A-Bone Marrow or Stem Cell Transplants Bone marrow or stem cell transplants have been used successfully in some children with severe thalassemia. This is a risky procedure, but it offers a cure for those children who qualify.
  35. 35. Other Treatments-4 People with severe thalassemia are more likely to get infections that can worsen their anemia. They should get an annual flu shot and the pneumonia vaccine to help prevent infections. Folic acid is a B vitamin that helps build red blood cells. People with thalassemia should take folic acid supplements. Researchers are also studying other treatments, such as gene therapy and fetal hemoglobin.
  36. 36. Gene therapy-5 Someday, it may be possible to cure thalassemia in an unborn child by inserting a normal gene into the child’s stem cells.
  37. 37. Fetal hemoglobin-6 Researchers are studying ways to enhance production of fetal hemoglobin in people with thalassemia. Fetal hemoglobin is the type of hemoglobin made by the body before birth. After birth, the body usually switches from making fetal hemoglobin to the adult form of hemoglobin. Some children have a gene variant that prevents the switch, and their continuing production of fetal hemoglobin lessens the severity of their illness. Researchers are testing ways to enhance fetal hemoglobin production after birth.
  38. 38. How Can Thalassemia Be Prevented? Although thalassemia cannot be prevented, it can be identified before birth by prenatal diagnosis. People who have or believe that they may carry the thalassemia genes can receive genetic counseling to avoid passing the disorder to their children.
  39. 39. Living With Thalassemia1. The Cooley’s Anemia Foundation offers support to people with various types of thalassemia through its Thalassemia Action Group.2. If you have moderate or severe thalassemia, you need to take care of your overall health.
  40. 40.  Follow your treatment plan. See your doctor regularly for checkups and treatment. If you must have regular blood transfusions and iron chelation therapy, it is important to continue with treatment as recommended. If you have regular blood transfusions, you should avoid taking vitamins or other supplements containing iron. Maintain a healthy diet. Your doctor may also give you a supplement of folic acid (a B vitamin) every day to help your body make new red blood cells. Get a flu shot every year and the pneumococcal vaccine to prevent infect
  41. 41. Key Points Thalassemia is an inherited blood disorder that can cause mild to severe anemia. Thalassemia involves problems with the production of hemoglobin in red blood cells. As a result, a person with thalassemia doesn’t have enough hemoglobin or red blood cells to carry oxygen throughout the body (anemia).
  42. 42.  Two main types of thalassemia are alpha and beta thalassemia. Alpha thalassemia occurs when there is a problem with the alpha globin chain that is part of hemoglobin. Beta thalassemia occurs when there is a problem with the beta globin chain. Mild, moderate, and severe forms of thalassemia occur. Severe beta thalassemia is often called Cooley’s anemia.
  43. 43.  The most common severe form of thalassemia seen in the United States is beta thalassemia major, or Cooley’s anemia. It mainly affects people from Mediterranean countries and Asia. Some people are “silent carriers” with no symptoms. Other carriers have mild anemia but usually need no treatment. Carriers can pass thalassemia genes on to their children.
  44. 44.  Severe thalassemia is treated with frequent blood transfusions and iron chelation therapy to remove excess iron that builds up in the body from the transfusions. Bone marrow or stem cell transplants have cured thalassemia in some children, but this treatment is not available for most people with thalassemia. Researchers are studying new treatments, including ways to cure thalassemia through stem cell and gene therapies.
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