Mediterranean anemia, which is also known as "thalassemia" in the medical language, is called by this name because it is mostly seen in Mediterranean countries. However, it is now possible to detect the effects of the disease not only in Mediterranean countries but also in many parts of the world.
What is Thalassemia?
Thalassemia is a kind of hereditary disease that is generally seen in races in Mediterranean countries, and is caused by the passing of the "Beta Thalassemia" gene to the child to be born from his parents. It occurs as a result of a defect in the production of hemoglobin. There are 2 parts in the red blood cells, "hem" and "globin". Globin fragment is divided into alpha and beta. The absence or insufficiency of one of these chains managed by genes leads to thalassemia.
Thalassemia with familial transmission has been seen frequently both in the world and in Turkey in recent years. However, many carriers do not feel the symptoms. If both mother and father are carriers, the risk of developing the disease can increase to 25 percent. Today, there are 1 million 300 thousand thalassemia carriers and more than 4 thousand thalassemia patients in Turkey.
What are the Symptoms of Mediterranean Anemia (Thalassemia)?
The most common Familial Mediterranean Anemia (FAA) or symptoms of thalassemia as it is called in medicine:
- Weakness,
- Jaundice in the eyes,
- Enlarged spleen,
- Deformity in the bones of the face,
- Paleness,
- Anorexia,
- It is darkening of the urine.
Thalassemia should not be confused with Familial Mediterranean Fever (FMF), another disease seen in Mediterranean regions, or FMF disease as it is called in medicine.
What are the Causes of Mediterranean Anemia?
The most common cause of thalassemia is defective hemoglobin molecules. Defective genes inherited from mother or father are usually in children. It causes Mediterranean anemia. There are 2 parts in the red blood cells, "hem" and "globin". Globin fragment is divided into alpha and beta. Thalassemia disease may occur if one of these chains managed by genes is absent or insufficient.
What are the Types of Mediterranean Anemia?
Thalassemia minor, thalassemia major and thalassemia intermedia are types of Mediterranean anemia. The type of the disease is determined as a result of various triggers in the clinical setting.
Thalassemia Minor: Mediterranean anemia carrier is seen in thalassemia minor patients. In this type of disease, also known as beta thalassemia, patients continue their daily lives easily. In other words, no symptoms of the disease are felt. There may be defective gene transfer only to unborn children. Anemia can only be learned from blood tests done before marriage. Individuals have a slight feeling of tiredness. However, this situation is not directly associated with thalassemia. Thalassemia minor tests must be done by charging the hemoglobin molecules with electricity. Otherwise, the disease may be confused with iron deficiency anemia and cause misdiagnosis.
Thalassemia Major: It is the most severe type of Mediterranean anemia. It is seen in children born as a result of defective gene transfer from carrier parents. Symptoms begin to appear when the baby is only 6 months old. Deep anemia, growth retardation and jaundice are among the main symptoms. If left untreated, it can lead to dire consequences, including heart failure and even death.
Thalassemia Intermedia: It is the intermediate form of Mediterranean anemia. That is, the symptoms are not as mild as minor, nor as severe as major. Complaints usually start from the age of 2 and continue until the end of life. Disease and carrier probability as a result of marriage in Mediterranean anemia
- If an individual with Mediterranean anemia marries a healthy person, the children to be born will be healthy carriers.
- If two thalassemia carriers marry, the children to be born will be carriers with a probability of 50 percent.
- If a thalassemia patient marries an individual with a thalassemia carrier, the children will be carriers or patients with a 50 percent probability.
- Has thalassemia� If the spouse marries a healthy person, their children will be healthy or carriers with a 50% probability.
- If two Mediterranean anemia patients get married, all the children to be born will be sick.
What is the Thalassemia Test? How is Thalassemia Diagnosed?
Thalassemia diagnosis,
- complete blood count,
- peripheral smear (looking at blood cells under a microscope),
- thalassemia hemoglobin It can be performed with very simple and easy blood tests such as electrophoresis (thalassemia test).
Mediterranean Anemia (Thalassemia) in Child
Mediterranean anemia (Thalassemia) is inherited, and hemoglobin production occurs due to the disorder. There is a defect in the genes that control the production of hemoglobin. Mediterranean anemia can also manifest itself in the form of carriage. Carriers do not show any signs of disease. If the woman and man are carriers of thalassemia and get married, the baby will be 25% likely to be sick, 25% likely to be healthy, and 50% likely to be a carrier of thalassemia. It is beneficial for couples to have a blood test for thalassemia carrier before marriage. In the blood test, it is determined that the red blood cells (erythrocytes) of thalassemia carriers are smaller than normal. The blood test is called Thalassemia Hemoglobin Electrophoresis.
When Does Thalassemia Show Symptoms?
If the child has thalassemia major, he is born with thalassemia and severe anemia is seen in the first years of life. Instead of intact hemoglobin, these children produce a different type of hemoglobin with impaired oxygen-carrying ability. As a result, there is not enough healthy hemoglobin production and anemia, growth retardation, spleen enlargement, susceptibility to infections, changes in facial bones and liver, heart and pancreatic disorders can be seen in children. Children with thalassemia major should receive regular blood and erythrocyte transfusion once a month for life. erythrocyte transfusion them cause iron accumulation in the body as a side effect. Iron accumulation accumulates in organs, especially the heart and liver, and can damage the organs. These patients are administered drugs that increase iron excretion around the age of 2-3 to reduce iron accumulation.
What are the Symptoms of Thalassemia?
The only finding in Thalassemia Minor is anemia. The patient is sluggish and tired. Thalassemia Major usually manifests itself from birth. Anemia and jaundice become evident when the baby is 4-6 months old. The hemoglobin value begins to decrease. Color fades, loss of appetite and vomiting are seen. In order to balance anemia, the bone marrow increases the production of red blood cells, and as a result of the bone marrow's hard work and expansion, changes occur in the facial bones and the appearance of the face deteriorates. Due to the accumulation of iron, enlargement may occur in organs such as the heart, liver and pancreas. Abdominal swelling develops due to enlargement of the liver and spleen. Facial bones are deformed. Forehead, cheekbones protrude, nasal root depressed, upper teeth protrude forward. The head takes the form of four corners. His stature is short.
How to Treat Mediterranean Anemia?
Different treatment methods are applied to patients according to the type of thalassemia. However, most patients need blood transfusions every 3-4 weeks. Hemoglobin values should be kept above 9.5 g/dl. The main point to be considered during treatment is iron accumulation. Frequent blood transfusions can lead to iron accumulation in patients, causing cell damage in the spleen, pancreas, heart and liver organs. Therefore, a drug called desferrioxamine given by subcutaneous infusion is administered from the age of 3 to prevent iron accumulation. Continuous blood transfusion is applied to these patients who have severe anemia since childhood. In addition, folate supplements are of great importance in the treatment of the disease. In cases of thalassemia minor, the most effective solution is a bone marrow transplant. The success rate in bone marrow transplantation is generally between 58% and 91%. Sibling, parent or cord blood can be used as stem cell source. Patients with thalassemia intermedia do not usually need a blood transfusion. However, serious treatment should be started and the patient should be kept under constant follow-up.
What are the Problems That May Occur When Mediterranean Anemia Is Not Treated?
- Thin and brittle bones,
- Congestive heart failure,
- Premature babies (sometimes babies may die in the womb)
- Liver, spleen and heart enlargements,
- Extramedullary erythropoietic tissue tumors
Our Advice for Patients with Mediterranean Anemia
- Since there will be iron accumulation in the body of patients with Mediterranean anemia, vitamin and iron-containing supplements should not be taken unless the doctor recommends it.
- Infections should be avoided by washing hands frequently and staying away from sick people. Hepatitis B, meningitis and pneumococcal vaccines can be given every year to prevent infections.
- The energy lost by the body should be stored by creating a balanced and healthy nutrition program. Foods containing folic acid can be consumed, especially for the formation of red blood cells.
- Health controls must be done to detect the presence of Mediterranean anemia. Married couples can benefit from a variety of treatment recommendations, such as genetic counseling and prenatal diagnosis. It is of great importance for the couples to be married to take precautions by having a check-up in a full-fledged hospital in order for the children to be healthy.
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