What is Mediterranean anemia (thalassemia)?

Mediterranean anemia (beta-thalassemia) is a group of inherited diseases characterized by a genetic deficiency in the synthesis of beta-globin chains of the hemoglobin substance that gives redness to the blood. In the homozygous state, beta-thalassemia (i.e. thalassemia major) causes severe, anemia that requires a continuous blood transfusion. In the heterozygous state, beta-thalassemia (i.e. thalassemia minor) causes mild to moderate microcytic (smaller than normal red blood cells) anemia. Patients with clinical severity of the disease between thalassemia major and thalassemia minor are considered thalassemia intermedia. If the diseased gene is present in both the mother and the father, the disease in the child is homozygous; It is called heterozygous if only one parent has it. Because beta-thalassemia is common in Mediterranean countries, it is called Mediterranean anemia. Apart from the Mediterranean countries, it is also common in Africa and Southeast Asia. These regions are also the regions where malaria is common. Therefore, it is thought that there is a relationship between diseases.

Mediterranean anemia causes low hemoglobin substance that carries oxygen to tissues in the body. Depending on the degree of the disease, symptoms occur.

What is Mediterranean anemia (thalassemia)?

What causes Mediterranean anemia?

Mediterranean anemia is a hereditary disease. It occurs as a result of gene mutations. More than 200 gene mutations have been identified in patients with thalassemia. It is in the autosomal recessive disease group. Globin protein of hemoglobin due to gene mutations is insufficiently synthesized. This disrupts hemoglobin synthesis. The result is manifested as varying degrees of anemia.

Who gets Mediterranean anemia?

Beta thalassemia is a genetic disease inherited from one or two parents. The only risk factor is a family history of the disease.

What are the symptoms of Mediterranean anemia?

The disease can be seen in 3 different ways as thalassemia major, thalassemia minor, and thalassemia intermedia. Disease symptoms vary depending on the type of illness.

Talasami Major: It is the most severe form of Mediterranean anemia. Children with this disease show the following symptoms at an early stage:

  • Paleness
  • Anorexia
  • Growth retardation
  • Having frequent infections
  • The yellowness of the skin
  • Swelling in the abdomen (due to enlarged liver and spleen)
  • An enlarged heart
  • Palpitation
  • Heart failure
  • Bones are thin and fragile. There may be frequent bone fractures. 
  • Facial bones become clear.
  • Symptoms due to iron accumulation in tissues due to repeated blood transfusions may be seen.
  • Overstrain
  • Dizziness
  • Leg pain or pain in other bones
  • Concentration problems

Thalassemia Minor: These patients have no symptoms other than mild anemia. It is often confused with iron deficiency.

Thalassemia Intermedia: These patients have moderate anemia. The symptoms seen are as follows:

  • Paleness
  • Overstrain
  • Growth and developmental delay
  • Weak bones
  • Growth in the spleen: Another place where blood is made is the organ called the spleen. It is located on the left side of the abdomen, just below the ribs. The spleen has many functions. Two of these are filtering the blood and protecting the body from certain infections. When the spleen encounters infection, it can initiate the process of fighting them. When you have thalassemia, the spleen can become very large while trying to make blood cells. Because he works so hard in this job, he cannot work hard to filter the blood or to monitor and fight infections. For this reason, thalassemia patients are said to have “immunodeficiency”. This creates a defect in the body’s defense against infection. If the immune system is suppressed, it is easier to become infected, and sometimes extra protection may be needed, such as the flu shot and other vaccines.

How is Mediterranean anemia diagnosed?

Beta thalassemia is mostly found in people of Greek, Italian, African or Asian descent. The diagnosis is usually made between the ages of 6-12. Severe thalassemia can cause symptoms in infancy. To diagnose Mediterranean anemia, the following examinations are performed on patients:

  • Complete blood count: This test provides information about the size, number, and maturity of different blood cells in a given blood volume.
  • Hemoglobin electrophoresis: This test provides information on HbA, HbA2, and HbF levels. HbA is low and HbA2 is high in patients with thalassemia. In a pregnant woman, the disease can be detected with the blood taken from the baby’s cord blood.
  • Serum iron and iron-binding level

How is Mediterranean anemia treated?

Treatment for Mediterranean anemia depends on the type of disease. Severe patients should receive regular blood transfusions. Minor and media patients with Mediterranean anemia do not require treatment. The main treatments for people with thalassemia are:

  • Regular blood transfusions
  • Iron accumulates in the body due to continuous blood transfusion in these patients. Medicines are used to bind excess iron in the body.
  • Surgical removal of the spleen if necessary
  • Daily folic acid supplement
  • Surgical removal of the gallbladder
  • Regular examination of the heart and liver
  • Bone marrow transplant, if possible
  • These patients should not use medications containing iron.
  • Haemophilus influenza type b, hepatitis, meningococcus, pneumococcal vaccines.

What are the complications of Mediterranean anemia?

  • Thalassemia minor is known as a Mediterranean anemia carrier. These patients have no symptoms other than mild anemia and do not cause any problems. These persons are not recommended to marry surrogate persons like themselves.
  • Thalassemia intermedia can cause problems depending on the severity of the anemia. These problems include delayed growth, weak bones, and an enlarged spleen.
  • Beta thalassemia causes major problems and can result in premature death. Complications can include delayed growth, bone problems causing facial changes, liver and gallbladder problems, enlarged spleen, enlarged kidneys, diabetes, hypothyroidism, and heart problems. People with thalassemia can get too much iron into their bodies either from illness or from frequent blood transfusions. Too much iron can adversely affect the hormone-producing glands that regulate processes in the body, heart, liver, and endocrine system. Infection risk increases in patients with thalassemia. This is particularly evident in patients whose spleen has been removed. Thalassemia can expand the bone marrow. This causes the bones to expand. This can cause abnormal bone structure, especially in the face and skull.

The spleen helps your body fight infection and filter out unwanted material such as old or damaged blood cells. Thalassemia is often accompanied by the destruction of large numbers of red blood cells. This causes the spleen to enlarge and work harder than usual.

An enlarged spleen can worsen anemia and shorten the life span of transplanted red blood cells. If the spleen becomes too large, doctors may recommend surgery to remove it.

Can Mediterranean anemia be prevented?

In most cases, Mediterranean anemia cannot be prevented. However, Mediterranean carriers of anemia are recommended not to marry carriers such as themselves. In our country, the Mediterranean anemia test is applied to couples who will get married before getting married. If thalassemia patients or thalassemia carriers want to have children, they should seek genetic counseling.

During IVF treatment, a healthy embryo is used by performing genetic tests on the embryo.

How long do patients with Mediterranean anemia live?

Mediterranean anemia is a serious disease that can lead to life-threatening complications if left untreated. While it is difficult to determine an exact life expectancy, the general rule of thumb is that the more severe the condition, the lower the life expectancy. With the treatments applied today, it is possible for patients to reach their 30s or even get married. The sooner thalassemia is detected, the sooner it can be treated. In the future, gene therapy could possibly reactivate hemoglobin and disable abnormal gene mutations in the body.

What are the risk factors in a pregnant woman with thalassemia?

Pregnancy in women with thalassemia carries the following risk factors:

  • higher risk of infection
  • gestational diabetes
  • heart problems
  • hypothyroidism or low thyroid
  • increased blood transfusion
  • low bone density

Who is referred to as a Mediterranean anemia carrier?

Individuals who carry the diseased gene but do not show symptoms of the disease. This group is called thalassemia minor.

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