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Thalassemia is an inherited blood disease (meaning that at least one parent must be a carrier of the disease) in which the body produces an abnormal form of hemoglobin. Hemoglobin is an iron-rich protein found in red blood cells that carries oxygen from the lungs to the rest of the body. Insufficient red blood cells lead to anemia, which can cause fatigue, weakness, or shortness of breath. People with thalassemia may have mild or severe anemia. Severe anemia can affect organs and lead to death.

CAUSES OF THALASSEMIA

Hemoglobin contains four protein molecules: two of alpha globulin and two of beta globulin. If your body does not produce these molecules at all or they are abnormal, the red blood cells will not form properly and will not have enough oxygen.

You have thalassemia when you inherit genetic mutations from one or both parents. If both parents are carriers of thalassemia, then the risk is to inherit a more serious form of the disease.

TYPES OF THALASSEMIA

The type of thalassemia you have depends on the type and number of genes you inherited from your parents.

There are two main types of thalassemia: alpha thalassemia and beta thalassemia, named after the protein molecules.

  • Alpha thalassemia: This type of thalassemia involves four genes (two from your mother, two from your father). If you have a single modified gene, you will not have any symptoms of thalassemia, but you can pass this gene on to your children. If you have two modified genes, you will have mild symptoms. If you have three modified genes, you will have moderate to severe symptoms. A baby who inherits all four modified genes will be very ill and probably will not live long after birth.
  • Beta thalassemia: This type of thalassemia involves two genes (one from your mother, one from your father). If you have a single modified gene, you will have mild symptoms of thalassemia. If you have two modified genes, you will have moderate to severe symptoms. They usually develop in the first two years of life.

PREVENTION OF THALASSEMIA

Because thalassemia is a genetic disease, there is no way to prevent it. However, there are ways you can manage the disease to help prevent complications. Thalassemia can affect both men and women.

Some ethnic groups are at higher risk:

  • Alpha thalassemia most often affects people in Southeast Asia, the Middle East, China, or Africa.
  • Beta thalassemia most often affects people of Mediterranean origin (Greek, Italian, and Middle Eastern), Asian, or African.

If you have thalassemia, it is important to have up-to-date vaccines: influenza vaccine, haemophilus influenzae type b vaccine, pneumococcal vaccine, meningococcal vaccine.

SYMPTOMS OF THALASSEMIA

Lack of oxygen in the bloodstream causes the symptoms of thalassemia. Lack of oxygen occurs because the body does not produce enough healthy red blood cells and hemoglobin. The severity of the symptoms depends on the type of thalassemia.

The symptoms of thalassemia can vary. Some of the most common include:

  • In children, slow growth, and delayed puberty
  • Bone deformities, especially on the face
  • Excessive fatigue
  • Yellow or pale skin
  • Lack of appetite
  • Dark urine
  • Enlarged spleen, liver, or heart
  • Shortness of breath

Babies born with thalassemia may have symptoms immediately or may appear later. Most symptoms usually appear in the first two years of life. Untreated thalassemia can cause heart failure and infection.

DIAGNOSIS OF THALASSEMIA

The doctor will perform a physical examination and ask you about your medical history. Thalassemia can only be diagnosed with blood tests. Some tests measure the number and size of red blood cells or the amount of iron in the blood. The sample will be sent to a laboratory to be tested for anemia and abnormal hemoglobin. The laboratory technician can also perform an analysis known as hemoglobin electrophoresis.

TREATMENT FOR THALASSEMIA

The treatment for thalassemia depends on the type and severity of the disease. The less hemoglobin the body produces, the more severe the anemia will be.

  • Folic acid supplements: People with thalassemia are often prescribed folic acid (vitamin B9) to help treat anemia. Folic acid can help with the development of red blood cells.
  • Blood transfusions: This treatment provides healthy red blood cells with normal hemoglobin. People with major thalassemia need regular blood transfusions because their bodies produce small amounts of hemoglobin. People with intermediate thalassemia may sometimes need blood transfusions, for example when they have an infection or disease. People with minor thalassemia usually do not need blood transfusions because they either do not have anemia or have only mild anemia. Blood transfusions will help you feel better and enjoy normal activities. This treatment is lifesaving, but it is expensive and carries a risk of transmitting infections and viruses (such as hepatitis).
  • Chelation therapy: If you have had many blood transfusions, too much iron may build up in your blood. To prevent this damage, doctors use chelation therapy to remove excessive iron from the body. For this therapy, two medicines are used: deferoxamine (solution for injection) and deferasirox (a pill).
  • Blood and bone marrow stem cell transplant: A blood and bone marrow stem cell transplant replaces defective stem cells with healthy ones from another person (a donor). A stem cell transplant is the only treatment that can cure thalassemia.

COMPLICATIONS OF THALASSEMIA

Thalassemia can lead to other health problems:

  • Enlarged spleen: The spleen helps the body fight infections and filters damaged blood cells. If you have thalassemia, the spleen may enlarge because it is trying to produce red blood cells.
  • Infections: People with thalassemia are more prone to infections, especially if they have had blood transfusions. People who have removed their spleen have an even higher risk because they no longer have this organ to fight infections.
  • Osteoporosis: Many people with thalassemia have bone problems, including osteoporosis. This is a disease in which the bones are fragile and break easily.
  • Too much iron in the blood: This can cause damage to the heart, liver, or endocrine system.

LIFESTYLE IF YOU HAVE THALASSEMIA

You can manage the disease so that you have a good quality of life:

  • Follow the treatment plan: It is important to follow the doctor’s recommendations and do blood transfusions, take the medicine recommended for chelation therapy and/or folic acid supplements.
  • Go for regular medical check-ups and get the tests/vaccines recommended by your doctor.
  • Choose a low-fat diet, limit iron-rich foods if you already have high levels of iron in your blood (fish, meat, grains, bread, and juices), eat greens and vegetables that contain folic acid.
  • Avoid infections (especially if you have had your spleen removed): Wash your hands often, avoid crowds during the cold and flu season, take proper care of the area where you have had blood transfusions, contact your doctor if you have a fever.

HOW DOES TALASEMIA AFFECT PREGNANCY?

This disease affects the development of the reproductive organs. Because of this, women with thalassemia may suffer from infertility. If you are pregnant, iron levels will need to be monitored closely. Prenatal testing for thalassemia can be done at 11 and 16 weeks of pregnancy. This is done by taking fluid samples from the placenta.

If you want to find out about types of cells, check out our article on this topic: 14 different types of cells in the human body.

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