Hematology
Thalassemia
Introduction:
Thalassemia is a genetic disorder affecting the blood cells. It is characterized by decline, below the natural rate, in both the red blood cells and the level of hemoglobin. The appearance of the anemia symptoms, such as fatigue and stress, is attributed to the lack of hemoglobin, the substance in the red blood cells that carries oxygen around the body.
 
Symptoms:
The signs and symptoms of thalassemia depend on the type and severity of the disease. Some babies show symptoms of thalassemia at birth; others may develop the symptoms during the first two years of life. Some children, who have only one affected hemoglobin gene, may not experience any thalassemia symptoms.
 
Some of the main symptoms:
  • Fatigue and general weakness.
  • Shortness of breath.
  • Pale skin.
  • Yellow discoloration of skin (Jaundice).
  • Facial bone deformities.
  • Slow growth.
  • Abdominal swelling.
  • Dark urine.
Causes:
Thalassemia is caused by mutations in the DNA of cells that make hemoglobin. Such thalassemia-associated mutations are passed genetically from parents to children. The genetic mutations cause disrupt in the normal production of hemoglobin. Thus, the low hemoglobin levels and the high rate of red blood cell destruction, suffered by patients with thalassemia, lead to appearance of anemia symptoms.
 
Types of Thalassemia:
The type of thalassemia depends on the number of genetic mutations and its infected part. The mutation affects either or both of the hemoglobin molecules, alpha and beta. The types of thalassemia include:
  • Alpha-thalassemia:
    Four genes are involved in making the alpha hemoglobin chain. You get two from each of your parents. Any defect in such chains causes alpha-thalassemia, whose severity differs based on the defect category. When there is a defect in one of the genetic chains, it is called "static thalassemia". Hence, the person is considered a gene carrier and has no any noticeable symptoms. When two mutated alpha genes suffer a defect, this condition is called "minor alpha-thalassemia", where signs and symptoms will be mild or don't occur, but can be discovered through blood testing.
A defect in three alpha genetic chains leads to severe anemia, and the symptoms suffered by the infected range between moderate and severe. This case is called (Hemoglobin H Disease). A blood test will show defected and fewer red blood cell. The patient suffers swelling of the spleen and bone deformities due to the increase of their activities so as to compensate the damaged red cells. The patient will be in need of blood transfusions in order to be able to live a normal life. If a defect hits four genetic chains, the condition is called (Major Alpha Thalassemia). This condition causes a fetus to die before delivery or immediately after birth.
  • Beta-thalassemia:
    Two genes are involved in making the beta hemoglobin chain. You get one from each of your parents. Beta-thalassemia is divided into two types based on the number of defective chains:
  1. Minor beta-thalassemia: It is caused by one mutated genetic chain, without noticeable symptoms on the infected person other than mild anemia which is discovered through routine blood tests.
  2. Major beta-thalassemia: It is caused by two mutated genetic chains; the infected suffers from severe anemia, bone deformities and spleen swelling, and will require regular blood transfusions in order to live a normal life. The symptoms don't appear at birth, but may appear within the first two years of life.
Complications:
Patients with major beta-thalassemia or hemoglobin H suffer from a number of complications if not treated in a correct and timely manner. Such complications include:
  • Slowed growth in children.
  • Enlarged spleen and abdominal swelling.
  • Bone deformities.
  • Severe anemia and continuous feeling of stress and fatigue.
Treatment and drugs:
Treatment for thalassemia depends on which type you have and how severe it is. The treatment for the mild to severe cases includes the following:
  1. Usually, such cases require frequent blood transfusions, maybe every several weeks. Over time, blood transfusions cause a buildup of iron in your blood, which can damage the heart, liver and other organs. To help the body get rid of the extra iron, as a result of the blood transfusion, certain medications will be prescribed for the patient.
  2. Stem cell transplantation (bone marrow transplant): Stem cell transplantation may be used to treat severe thalassemia. Prior to a stem cell transplant, the patient will receive very high doses of drugs or radiation to destroy the affected bone marrow. Then, he will receive infusions of stem cells from a compatible donor.
Living with the disease:
If you have thalassemia, be sure to:
  • Avoid taking doses of iron and don't take vitamins or other supplements that contain iron, unless supervised and recommended by your doctor.
  • Follow a healthy and balanced diet containing plenty of nutritious foods that supply you with necessary energy.
  • Your doctor may also recommend you to take the folic acid supplement to help your body make red blood cells.
  • It is recommended to take calcium and vitamin D to keep your bones healthy.
  • Avoid infection: Protect yourself from frequent infections by hand-washing and avoiding contact with sick people. This is especially important if you've had your spleen removed, and you'll also need an annual flu shot, as well as the meningitis, pneumococcal, and hepatitis B vaccines and other vaccines to prevent infections.
Prevention:
In most cases, thalassemia can't be prevented. If you have thalassemia, or if you carry a thalassemia gene, consider talking with a genetic counselor. Premarital tests are very important to prevent transmission of thalassemia disease to children, since medical examinations may show that the man or woman has infected genes, but they don't experience any symptoms.
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Last Update 20 May 2015 11:44 AM
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