Thalassemia
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Thalassemia is an inherited blood disorder. If you have thalassemia, your body produces fewer healthy hemoglobin proteins, and your bone marrow produces fewer healthy red blood cells. The condition of having fewer red blood cells is called anemia. As red blood cells serve the vital role of delivering oxygen to tissues in your body, not having enough healthy red blood cells can deprive your body’s cells of the oxygen they need to make energy and thrive. Anemia is an illness that makes you feel weak and tired. Severe anemia can damage organs and lead to death.
Thalassemia is a treatable disorder that can be well-managed with blood transfusions, chelation therapy and possibly cured with bone marrow and stem cell transplant in certain cases.
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Our medical consultants will advise you on the best choice for your acoustic neuroma in one of our leading hospitals. We will evaluate your current condition, expectations and other related factors, and offer you the most suitable option, respecting your health and the individual needs of your body and lifestyle. Your health is unique and so should be your solution.
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Treatment of Thalassemia
The type of treatment a person receives depends on how severe the thalassemia is. The more severe the thalassemia, the less hemoglobin the body has, and the more severe the anemia may be. Mild forms of thalassemia don’t need treatment.
For moderate to severe thalassemia, treatments might include:
- Frequent blood transfusions. People with thalassemia intermedia (not as severe as major, but not as mild as trait) may need blood transfusions sometimes, such as when they have an infection or an illness. People with thalassemia minor or trait usually do not need blood transfusions because they either do not have anemia or have only a mild anemia. More severe forms of thalassemia often require frequent blood transfusions, possibly every few weeks. This can be done through a blood transfusion, a safe, common procedure in which you receive blood through a small plastic tube inserted into one of your blood vessels. Over time, blood transfusions cause a buildup of iron in your blood, which can damage your heart, liver and other organs. Every time a person gets a blood transfusion, their risk for a problem called “alloimmunization” goes up. Alloimmunization happens when a person’s body reacts to blood from a transfusion because it is seen as harmful by their immune system, and tries to destroy it. Persons with alloimmunization can still receive blood transfusions, but the blood they receive has to be checked and compared to their own blood to make sure that it won’t be destroyed by their immune system. This takes time and can mean that persons with alloimmunization have to wait longer for blood, or may have a harder time finding blood that won’t be destroyed by their body.
Another concern for people who receive a lot of blood transfusions is the safety of the blood they receive. Some infections, like hepatitis, can be carried in blood. In our hospitals the blood supply is screened and monitored for safety, and the risk of getting an infection from a blood transfusion is very low.
Chelation therapy. People who receive a lot of blood transfusions are at risk for iron overload. Red blood cells contain a lot of iron, and over time, the iron from all of the transfusions can build up in the body. When it builds up, the iron collects in places like the heart, liver, and brain, and can make it hard for these organs to work properly. To prevent iron overload, people with thalassemia may need chelation therapy, which is when doctors give a medicine – either a pill or a shot under the skin – to remove excess iron before it builds up in the organs. Some people with thalassemia who don’t have regular transfusions can also develop excess iron. To help rid your body of the extra iron, you might need to take an oral medication, such as deferasirox (Exjade, Jadenu) or deferiprone (Ferriprox). Another drug, deferoxamine (Desferal), is given by needle.
Bone marrow and stem cell transplant from a compatible related donor is the only treatment to cure thalassemia. For children with severe thalassemia, it can eliminate the need for lifelong blood transfusions and drugs to control iron overload. This procedure involves receiving infusions of stem cells from a compatible donor, usually a sibling. Compatibility means the donor has the same types of proteins, called human leukocyte antigens (HLA), on the surface of their cells as the person receiving the transplant. The doctor will inject bone marrow stem cells from your donor into your bloodstream during the procedure. The transplanted cells will start to make new, healthy blood cells within one month.
Complications of Thalassemia
Complications
Types
Causes
Symptoms
Diagnosis
Complications
Both thalassemia major and thalassemia intermedia can cause more than just anemia. The complications associated with thalassemia are partially determined by the severity of your particular type of thalassemia and the treatment you require. Because thalassemia is a blood disorder, any organ can be affected. Receiving regular medical care is key to screening for these complications and initiating early treatment.
Skeletal Changes
Red blood cell (RBC) production occurs primarily in the bone marrow. In the case of thalassemia, this RBC production is ineffective. One way the body attempts to improve production is by expanding the available space in the bone marrow. This most notably occurs in the bones of the skull and face. People can develop what is called “thalassemic facies”—chipmunk-like cheeks and a prominent forehead. Early initiation of chronic transfusion therapy can prevent this from occurring.
Osteopenia (weak bones) and osteoporosis (thin and brittle bones) can occur in adolescents and young adults. It is not understood why these changes occur in thalassemia. The osteoporosis may be severe enough to cause fractures, particularly vertebral fractures.
Splenomegaly
The spleen is capable of producing red blood cells (RBC); it generally loses this function around the fifth month of pregnancy. In thalassemia, the ineffective RBC production in the bone marrow can trigger the spleen to resume production. In an attempt to do this, the spleen grows in size (splenomegaly).
This RBC production is not effective and does not improve anemia. Early initiation of transfusion therapy can prevent this. If the splenomegaly causes an increase in transfusion volume and/or frequency, splenectomy (surgical removal of the spleen) may be required.
Gallstones
Thalassemia is a hemolytic anemia, meaning the red blood cells are destroyed more rapidly than they can be produced. Destruction of the red blood cells releases bilirubin, a pigment, from the red blood cells. This excessive bilirubin may result in the development of multiple gallstones.
In fact, more than half of people with beta thalassemia major will have gallstones by age 15. If the gallstones cause significant pain or inflammation, gallbladder removal (cholecystectomy) may be required.
Iron Overload
People with thalassemia are at risk for developing iron overload, also called hemochromatosis. Excessive iron comes from two sources: repeated red blood cell transfusions and/or increased absorption of iron from foods.
Iron overload can cause significant medical problems in the heart, liver, and pancreas. Medications called iron chelators can be used to remove iron from the body.
Aplastic Crisis
People with thalassemia (as well as other hemolytic anemias) require a high rate of new red blood cell production. Parvovirus B19 is a virus that causes a classic illness in children called Fifth Disease.
Parvovirus infects the stem cells in the bone marrow, preventing RBC production for 7 to 10 days. This decrease in RBC production in a person with thalassemia leads to the development of severe anemia and usually the need for RBC transfusion.
Endocrine Problems
The excessive iron overload in thalassemia can result in iron being deposited in the endocrine organs, such as the pancreas, thyroid, and sex organs. Iron in the pancreas can result in the development of diabetes mellitus. Iron in the thyroid can cause hypothyroidism (low thyroid hormone levels), which may result in fatigue, weight gain, cold intolerance (feeling cold when others do not), and coarse hair. Iron in the sex organs may lead to symptoms that include decreased libido and impotence in men and lack of menstrual cycles in women.
Heart and Lung Issues
Heart issues are not uncommon in people with beta thalassemia major. Enlargement of the heart occurs early in life due to anemia. With less blood, the heart needs to pump harder, causing enlargement. Transfusion therapy can help prevent this from occurring. Long-term iron overload in the heart muscle is a major complication. Iron in the heart can cause an irregular heartbeat (arrhythmia) and heart failure. Starting iron chelation therapy early is crucial to preventing these life-threatening complications.
Although the reasons why are not completely understood, people with thalassemia appear to be at risk for developing pulmonary hypertension, or high blood pressure in the lungs. When blood pressure is elevated in the lungs, it makes it more difficult for the heart to pump blood into the lungs, which can lead to heart complications. Symptoms can be subtle, and screening tests are crucial so that treatment can be started early.
Types
There are 2 main types of thalassemia: alpha and beta. Different genes are affected for each type.
Alpha thalassemia occurs when some or all of the 4 genes that make hemoglobin (the alpha-globin genes) are missing or damaged.
There are 4 types of alpha thalassemia:
Alpha thalassemia silent carrier. One gene is missing or damaged, and the other 3 are normal. Blood tests are usually normal. Your red blood cells may be smaller than normal. Being a silent carrier means you don’t have signs of the disease, but you can pass the damaged gene on to your child. This is confirmed by DNA tests.
Alpha thalassemia carrier. Two genes are missing. You may have mild anemia.
Hemoglobin H disease. Three genes are missing. This leaves just 1 working gene. You may have moderate to severe anemia. Symptoms can worsen with fever. They can also get worse if you are exposed to certain medicines, chemicals, or infectious agents. Blood transfusions are often needed. You have a greater risk of having a child with alpha thalassemia major.
Alpha thalassemia major. All 4 genes are missing. This causes severe anemia. In most cases, a baby with this condition will die before birth.
Beta thalassemia is caused by damaged or missing genes. Two specific genes are involved. There are several types of this disorder:
- Beta thalassemia major (Cooley’s anemia). There are two damaged genes. This is the most severe form of this disorder. People with this condition will need frequent blood transfusions. They may not live a normal lifespan.
- Beta thalassemia minor or thalassemia trait. Only one gene is damaged. This causes less severe anemia. People with this type have a 50% chance of passing the gene to their children. If the other parent is not affected, their children will also have this form of the disorder. This type is further divided into:
Thalassemia minima: There are few or no symptoms.
Thalassemia intermedia: This causes moderate to severe anemia.
Many people with this disorder are given iron replacement by mistake. This happens when a lack of iron is believed to cause their anemia. Too much iron can be harmful. So it is important to get the right diagnosis. You may need to see a blood disorder specialist, called a hematologist.
Causes
The gene mutations that cause thalassemia arose in humanity as partial protections against malaria. So, thalassemia affects people who have ancestral links to parts of the world where malaria is prevalent, such as Africa, Southern Europe and West, South and East Asia. Thalassemia is inherited, which means the condition is passed from a biological parent to their child.
Hemoglobin consists of four protein chains, two alpha globin chains and two beta globin chains. Each chain — both alpha and beta — contains genetic information, or genes, passed down from your parents. Think of these genes as the “code” or programming that controls each chain and (as a result) your hemoglobin. If any of these genes are defective or missing, you’ll have thalassemia.
- Alpha globin protein chains consist of four genes, two from each parent.
- Beta globin protein chains consist of two genes, one from each parent.
The thalassemia you have depends on whether your alpha or beta chain contains the genetic defect. The extent of the defect will determine how severe your condition is.
Symptoms
There are several types of thalassemia. The signs and symptoms you have depend on the type and severity of your condition.
Thalassemia signs and symptoms can include:
- Fatigue
- Weakness
- Pale or yellowish skin
- Facial bone deformities
- Slow growth
- Abdominal swelling
- Dark urine
Some babies show signs and symptoms of thalassemia at birth; others develop them during the first two years of life. Some people who have only one affected hemoglobin gene don’t have thalassemia symptoms.
Diagnosis
Moderate and severe thalassemia are often diagnosed in childhood because symptoms usually appear within the first two years of your child’s life.
the doctor may request various blood tests to diagnose thalassemia:
- A complete blood count (CBC) that includes measures of hemoglobin and the quantity (and size) of red blood cells. People with thalassemia have fewer healthy red blood cells and less hemoglobin than normal. They may also have smaller-than-normal red blood cells.
- A reticulocyte count (a measure of young red blood cells) may indicate that your bone marrow isn’t producing enough red blood cells.
- Studies of iron will indicate whether the cause of your anemia is an iron deficiency or thalassemia.
- Hemoglobin electrophoresis is used to diagnose beta thalassemia.
- Genetic testing is used to diagnose alpha thalassemia.
