What is Mediterranean Anemia (Thalassemia)?

Mediterranean anemia (thalassemia) is a disease that is inherited to children. For this reason, those who are carriers of Mediterranean anemia must go through some screenings before having a child.

So, what is this Mediterranean anemia? What symptoms does it show, how is it treated?

What is Mediterranean anemia?

Mediterranean anemia (thalassemia) is a very serious inherited blood disorder that occurs in early childhood. It is often confused with familial Mediterranean fever, but they are different diseases.

What causes Mediterranean anemia?

The reduction or change in the structure of the protein chains that make up hemoglobin leads to thalassemia.

In beta thalassemia; If one of the globin genes from the mother and father is changed, he is born as a carrier, if both genes are changed, he is born as a thalassemia patient.

What are the symptoms of Mediterranean anemia?

• Anemia,
• deformities in facial bones,
• Excessive and quick fatigue
• nerve,
• Anorexia,
• swelling in the abdomen,
• Enlargement of the liver and spleen
• Heart failure,
• Yellowness and pallor of the skin,
• wound on legs,
• darkening of the skin,
• Insufficient growth and developmental delay are the main symptoms of thalassemia.

Mediterranean anemia does not show any symptoms in carriers.

How is Mediterranean anemia diagnosed?

Mediterranean anemia in children is usually diagnosed as a result of a general screening or after taking them to the doctor with the suspicion of anemia.

The definitive diagnosis of thalassemia is made by evaluating the complete blood count and performing hemoglobin electrophoresis.

Severe anemia is detected in those who are sick. Carriers, on the other hand, have mild anemia and do not benefit much from iron therapy.

Who gets Mediterranean anemia?

Mediterranean anemia is most common in those of Asian, African, Middle Eastern, Greek and Italian descent. In our country, beta thalassemia carrier rate is 2%. If the mother and father are carriers, the probability of occurrence in children is around 25%.

What are the types of thalassemia?

Types of Mediterranean anemia are related to the severity of genetic deterioration. Species seen are:

thalassemia minor

Occurs only in healthy people with mild anemia, it is the most common type.

thalassemia major

It is a type where serious health problems can occur, the treatment of thalassemia major lasts a lifetime and the only method applied to get a definitive solution is bone marrow transplantation. Genetic compatibility with family members or cord blood can be used as a source of stem cells.

thalassemia intermedia

It is the type that is not completely healthy, such as a thalassemia carrier, and the symptoms of the disease usually start at an advanced age. The blood requirement is generally less, and partial support is required from time to time.

What is thalassemia carrier?

Mediterranean anemia carrier is a different genetic condition that causes this disease. Also known as thalassemia minor.

A child with Mediterranean anemia has mild anemia, but this is not due to iron deficiency. There is no harm to the child.

Sometimes it can be confused with anemia caused by iron deficiency. This leads to unnecessary iron therapy.

How should someone with Mediterranean anemia be fed?

Iron supplementation in thalassemia also increases the amount absorbed in the intestines. Therefore, it is necessary to avoid eating foods rich in iron.

However, this does not apply to thalassemia carriers. Because there is a possibility of developing iron deficiency anemia in cases where the need for carriers increases.

Is Mediterranean anemia dangerous for marriage?

If you have Mediterranean anemia, it is very important that your spouse is checked before marriage. Because the fact that both spouses have Mediterranean anemia increases the risk of the disease in the child to be born.

Therefore, all couples who will marry in regions where Mediterranean anemia carriers are common in our country should be screened in this regard.

Is Mediterranean anemia disease fatal?

Mediterranean anemia is not a fatal disease. However, if the treatment is not done properly, it negatively affects the quality of life and leads to a significant shortening of the life span.

How is Mediterranean anemia treated?

The cost of thalassemia treatment is very high. It is of great importance at this point to prevent the birth of sick children, as it is also a difficult and exhausting disease.

Someone with beta thalassemia needs blood support every 3-4 weeks for life and the hemoglobin value should be kept above 9.5 g/dl. Blood transfusions given to relieve anemia cause iron accumulation in the body, leading to cell damage in organs such as the heart, spleen, pancreas and liver.

In order to prevent this situation, in order to prevent iron accumulation, a drug that is given to children with a special pump at least 5 days a week, with a subcutaneous infusion lasting 8-12 hours, is usually started from the age of 3 years. In recent years, oral tablets can also be used.

In addition to these, in thalassemia patients;

• Iron level in the blood, complete blood count, hormonal system, heart and liver are evaluated regularly.
• Attention is paid to diseases transmitted through blood.
• If the annual blood consumption has increased 1.5 times than it should be, the spleen is taken in the next periods. Although removal of the spleen reduces the need for blood, it does not provide a definitive solution.

How to prevent Mediterranean anemia?

• First of all, the society needs to be educated about beta thalassemia. It is very important for couples to get married in regions with high surrogacy.

• In cases where both spouses are carriers, counseling support is required. Having pre-pregnancy tests and getting support from genetic diagnosis centers are also important issues.
• In the marriage of two carriers, the first 2 months of pregnancy should definitely consult a doctor and have the necessary controls done. Thus, it is possible to prevent the birth of a sick child with various diagnostic methods.