Mediterranean anemia, also called thalassemia, is a type of genetically inherited anemia seen in the Mediterranean region. In our country, there are 1.4 million carriers of Mediterranean anemia and around 4500 patients.
Mediterranean anemia, one of the most common genetic diseases in our country, is seen in 25% of children if the mother or father is a carrier. Thalassemia can be detected by screening tests and can therefore be prevented.
What is Mediterranean Anemia?
It is a disease characterized by a genetic deficiency in the synthesis of the beta globin chain of hemoglobin, the substance that gives blood its red color. In the case of thalassemia major, which is severe thalassemia, patients need continuous blood transfusions. When the disease is not severe, it is called thalassemia minor. If the clinical picture of the patients is between these two severities, it is called thalassemia intermedia.
The type of anemia seen in children where both mother and father are carriers is homozygous, i.e. thalassemia major, whereas if either mother or father is a carrier, the children are heterozygous, i.e. thalassemia minor.
Thalassemia is most common in countries in the Mediterranean region, but is also found in parts of Africa and South Asia. Malaria is also common in these regions, suggesting a correlation between the two diseases.
Causes of Mediterranean Anemia
Mediterranean anemia caused by gene mutations is a genetic disease. Research on thalassemia patients has identified more than 200 gene mutations. Due to these mutations, hemoglobin globin protein is inadequately synthesized in patients. This leads to impaired hemoglobin synthesis.
Who Has Mediterranean Anemia?
The only reason for the occurrence of Mediterranean anemia is a family history of Mediterranean anemia.
Symptoms of Mediterranean Anemia
The fact that Mediterranean anemia is divided into 3 different groups also causes the symptoms seen in patients to differ.
Symptoms of Thalassemia Major
Thalassemia major, the most severe type of Mediterranean anemia, shows its first symptoms around 6 months of age. Symptoms in infants and children are as follows.
- Concentration disorders,
- Pain in other bones, especially in the legs,
- Symptoms due to iron accumulation in tissues from repeated blood transfusions,
- Facial bones become prominent,
- Heart failure
- Palpitations,
- Enlargement of the heart
- Abdominal swelling due to enlargement of the liver and spleen,
- Yellowness of the skin,
- Frequent infections,
- Developmental delay,
- Loss of appetite
- Pallor,
Symptoms of Thalassemia Minor
Symptoms of thalassemia minor, the mildest form of Mediterranean anemia, include iron deficiency and mild anemia symptoms.
Symptoms of Thalassemia Intermedia
Symptoms seen in these patients with moderate to severe anemia include the following.
- Enlargement of the spleen
- Weak bones
- Growth and development retardation,
- Extreme fatigue,
- Pallor,
How is Mediterranean Anemia Diagnosed?
Mediterranean anemia, which is usually diagnosed in children between the ages of 6 and 12, starts to show symptoms from infancy if it is thalassemia major. The tests performed on patients to diagnose thalassemia are as follows.
- A complete blood count to measure the size and number of different blood cells in a given volume of blood,
- Hemoglobin electrophoresis test to measure HbA and HbA2 values (in thalassemia patients, the HbA value is low while the HbA2 value is high. In pregnant patients, this test is performed by sampling cord blood).
- Serum iron and iron binding level,
Mediterranean Anemia Treatment
The methods to be applied in the treatment of Mediterranean anemia are determined according to the severity of the disease. While thalassemia minor and intermediate patients do not need to receive treatment, treatment methods for thalassemia major patients include the following.
- Administration of pneumococcal, meningococcal, hepatitis and hemophilus influenza tib b vaccines,
- Avoidance of iron-containing medicines,
- Bone marrow transplant,
- Regular check-ups of the heart and lungs,
- Removal of the gallbladder,
- Folic acid supplements that should be taken daily,
- Regular blood transfusions,
- Medicines used to prevent iron accumulation,
Complications of Mediterranean Anemia
Complications of Mediterranean anemia also vary according to the severity of the disease.
Thalassemia Minor
Thalassemia minor patients are also called carriers of Mediterranean anemia. It is not recommended that these people marry people with the same disease.
Thalassemia Intermedia
In patients with thalassemia intermedia, the complications vary according to the severity of the disease. Complications in these patients include growth retardation, enlarged spleen and weak bones.
Thalassemia Major
In patients with beta thalassemia major, large-scale complications are encountered. In addition, these patients are prone to early death. Complications of major thalassemia include bone problems causing facial changes, delayed growth, gallbladder and liver problems, enlarged kidneys, enlarged spleen, hypothyroidism, diabetes and heart problems.
Thalassemia major patients may accumulate iron in the tissues due to the constant blood transfusion. Excess iron in the body negatively affects the heart, hormone-producing glands, the endocrine system and the liver.
Infection is more common in patients who have had their spleen removed.
Thalassemia major causes enlargement of the bone marrow, which in turn causes enlargement of the bones. Expanding bones make them more fragile and thinner. It also causes shape changes, especially in the skull.
In thalassemia patients, the spleen has to work harder because a large number of red blood cells are destroyed. This causes the spleen to enlarge. Enlargement of the spleen causes anemia to worsen. For this reason, surgery to remove the spleen is usually recommended.
What are the Risk Factors for Pregnant Women with Mediterranean Anemia?
- Low bone density,
- Increasing blood transfusions,
- Hypothyroidism
- Low thyroid,
- Heart problems,
- Gestational diabetes,
- Higher risk of infection,
