2. What Is Thalassemia?
Thalassemia is a group of inherited disorders of hemoglobin synthesis characterized by a reduced or absent output of one or more of the globin chains of adult hemoglobin .
The name is derived from the Greek words Thalasso = Sea" and "Hemia = Blood" in reference to anemia of the sea.
Reduction of α or β chain synthesis causes α or β-thalassaemia respectively.

3. What Is Thalassemia?
It is an inherited atuosomal recesive blood disorder that causes mild or severe anemia .
The anemia is due to reduced hemoglobin and fewer red blood cells than normal.
Hemoglobin is the protein in red blood cells that carries oxygen to all parts of the body.

4. 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.

5. The two main types of thalassemia
There are two types;
Alpha,  chain of Hgb I saffected, and
beta,  chain is affected (more common).
The genes for each type of thalassemia are passed from parents to their children.
Alpha and beta thalassemias can be classified into:
Mild (minor/trait),
Moderate (intermediate)
and severe (major forms.

9. 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 (incompatible with life). It can result in miscarriage.

10. 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

11. 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

12. Transmission of ß thalassemia
If a carrier (thalassemia minor) marries a non-carrier, on average half of their children will be carriers, but none will develop thalassemia major.
abdullah ali alqarni

13. Transmission ß of thalassemia- Cont
However if two carriers marry, in each pregnancy there is a 25% chance of a non-carrier child, a 50% chance of a carrier child (thalassemia minor), and a 25% chance of a child with thalassemia major.
abdullah ali alqarni

14. An example of inheritance: a carrier married to a normal person
Source: Emirates Thalassemia Society
abdullah ali alqarni

15. abdullah ali alqarni

16. An example of inheritance- Cont: marriage between two carriers
Source: Emirates Thalassemia Society
abdullah ali alqarni

17. abdullah ali alqarni

18. abdullah ali alqarni

19. Types of ß thalassemia- Cont
Thalassemia Intermedia.
Caused by the reduced availability of beta chains in hemoglobin and
abdullah ali alqarni

20. Beta Thalassemias
Beta thalassemia minor, also called thalassemia minor or thalassemia trait.
Such people usually practice normal life, but may suffer from a mild form of anemia.
Beta thalassemia intermedia, also called thalassemia intermedia or mild Cooley’s anemia . Can lead to moderate to severe anemia and an array of complications including bone deformities and splenomegaly.

21. Beta thalassemia major, also called thalassemia major or Cooley’s anemia
Mediterranean 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.leading to iron-overload which is treated with chelation therapy to prevent death from organ failure.

22. If one gene is affected, a person is a carrier and has mild anemia
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.

23. 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).

24. 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).

25. “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.

26. Fatigue (feeling tired) and weakness
In more severe types of thalassemia, such as Cooley’s anemia, signs of the severe anemia are seen in early childhood and may include:
Fatigue (feeling tired) and weakness
Pale skin or jaundice (yellowing of the skin)
Protruding abdomen, with enlarged spleen and liver
Dark urine
Abnormal facial bones and poor growth

27. Babies with all four genes affected (a condition called alpha thalassemia major, or hydrops fetalis) usually die before or shortly after birth

28. How Is Thalassemia Diagnosed?
Thalassemia is diagnosed using blood tests, including a complete blood count (CBC) and special hemoglobin studies.
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.
Hemoglobin studies measure the types of hemoglobin in a blood sample.

29. 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.

30. 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.

31. Family genetic studies are also helpful in diagnosing thalassemia
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.

32. How Is Thalassemia Treated?
Treatment 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.

33. 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.

34. 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.

35. 3-Surgery
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.

36. 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.

37. 4-Other Treatments
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.

38. 5-Gene therapy
Someday, it may be possible to cure thalassemia in an unborn child by inserting a normal gene into the child’s stem cells.

39. 6-Fetal hemoglobin
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.

40. 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.

41. Living With Thalassemia
The Cooley’s Anemia Foundation offers support to people with various types of thalassemia through its Thalassemia Action Group.
If you have moderate or severe thalassemia, you need to take care of your overall health.

42. Follow your treatment plan
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

43. 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).

44. Two main types of thalassemia are alpha and beta thalassemia
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.

45. 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.

46. 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.

47. 1
THANK YOU