Mediterranean Anemia – Symptoms and Treatment Methods

Mediterranean Anemia (Thalassemia)

Overview Mediterranean Anemia, also known as Thalassemia, is a type of anemia disease primarily seen in the Mediterranean region, which can be inherited by subsequent generations through genetic factors. In our country, there are around 1.4 million carriers and approximately 4,500 patients with thalassemia.

When both parents are carriers, there is a 25% chance of the child being affected by the disease. Thalassemia, which is one of the most common genetic diseases in our country and a significant health problem worldwide, can be detected through screening tests. Therefore, it is a preventable disease.

The most severe form of the disease, beta thalassemia, manifests after the baby reaches 6 months of age and can lead to organ damage. The disease is managed through blood transfusions once diagnosed.

Currently, stem cell transplantation is the definitive treatment for the disease. However, the success of stem cell transplantation depends significantly on the absence of organ damage.

Individuals who are carriers of Mediterranean Anemia (Thalassemia) do not exhibit significant symptoms other than anemia, and no treatment is required.

Advancements in the medical field nowadays enable the control of thalassemia, improving patients’ quality of life and life expectancy.

Health Problems

How Does Mediterranean Anemia Occur?

In thalassemia, there is a deficiency or abnormality in the genes responsible for the production of hemoglobin, which carries oxygen in red blood cells.

Hemoglobin, present in red blood cells in our blood, carries the oxygen necessary for tissues. In cases of deficiency or abnormality in hemoglobin production, oxygen transport is insufficient, leading to symptoms such as pallor, fatigue, easy tiredness, palpitations, and growth retardation due to decreased oxygen in tissues and organs.

Causes of Mediterranean Anemia (Thalassemia)

Mediterranean Anemia (Thalassemia) occurs solely due to hereditary reasons. In Turkey, one out of every 40-50 individuals carries genes that can lead to thalassemia, while in Antalya, Adana, and the Southeast Anatolia Region, this ratio is one in every 10 individuals. Humans have two sets of genes for a trait; one is inherited from the mother and the other from the father. For Mediterranean anemia to occur, at least one of the parents must be a carrier or have the disease. If the disease gene is not present in the parents, it will not be present in their offspring.

In cases where both parents are carriers of the disease:

  • There is a 25% chance of the child being born with the disease, a 50% chance of being a carrier, and a 25% chance of being healthy.
  • When one parent is a carrier and the other is healthy, there is a 50% chance of the child being a carrier and a 50% chance of being healthy.
  • If one parent has the disease and the other is healthy, the child will be 100% a carrier.
  • If one parent has the disease and the other is a carrier, there is a 50% chance of the child having thalassemia and a 50% chance of being a carrier. In addition to these probabilities, if carrier status is detected in both parents, healthy embryos obtained through Preimplantation Genetic Diagnosis (PGD) can be implanted through in vitro fertilization or injection methods to have healthy children.

Thalassemia carrier status does not manifest as the disease. It is essential to provide information to carriers about having healthy children in the future, especially in consanguineous marriages, where the risk of thalassemia is high. Therefore, it is crucial for these individuals to undergo the necessary tests before marriage.

Can Beta Thalassemia Patients Have Children?

Patients undergoing regular transfusions and treatment for iron accumulation can have children.

Types of Thalassemia

Thalassemia Major It is the most severe form of Mediterranean Anemia, characterized by all symptoms.

Patients carry two thalassemia genes inherited from both parents. Apart from severe anemia, symptoms in thalassemia patients may include jaundice, splenomegaly, weakness, indifference to surroundings, susceptibility to infections, growth retardation, bone enlargement and thinning, flattening of the bridge of the nose, protrusion of the forehead and other facial bones, and an abnormal facial appearance.

Patients require lifelong blood transfusions and medication to remove excess iron from the body. Bone marrow transplantation is the definitive treatment nowadays.

Thalassemia Intermedia It is an intermediate form of the disease. Both males and females are carriers, but unlike thalassemia major, the gene mutation leads to moderate anemia. Patients usually do not require blood transfusions. Symptoms become apparent between 2-4 years of age. Symptoms may include jaundice, splenomegaly, liver enlargement, and growth retardation. Supportive blood transfusions may be required during infections.

Thalassemia Minor (Thalassemia Carrier) Individuals have the thalassemia gene but are healthy due to another healthy gene. However, if the person has a child with another carrier, there is a possibility of the child having thalassemia. Thalassemia carrier status is not a disease but may cause mild anemia and weakness.

Thalassemia Minima (Thalassemia Carrier) Symptoms are similar to those of thalassemia minor, but normal hemoglobin is detected by hemoglobin electrophoresis, and the diagnosis is confirmed by genetic analysis.

Symptoms of Mediterranean Anemia (Thalassemia)

Thalassemia usually presents symptoms shortly after birth. In less severe types, there may be no symptoms or serious health problems until childhood or even adulthood.

Mediterranean anemia mimics iron deficiency due to symptoms such as paleness and easy fatigue. Therefore, in addition to anemia, symptoms of thalassemia, which may occur from early childhood, include:

Excessive pallor of the skin Abdominal swelling due to gradual enlargement of the liver and spleen Anemia Growth and developmental retardation Jaundice Gallstones Bone deformities Bone fractures due to weak and fragile bones Prominence of the forehead and cheekbones Flattening of the bridge of the nose, protrusion of the upper jaw Delayed onset of menstruation Leg ulcers and skin darkening may also indicate thalassemia.

If excess iron accumulated in the body due to blood transfusions in thalassemia-treated patients cannot be removed, problems such as heart failure, disruption of the hormonal system, bone deformities, and splenomegaly may occur.

Diagnosis of Mediterranean Anemia

Diagnosis can be made through screening tests during pregnancy in families where the patient or carrier is known. Additionally, thalassemia can be detected through newborn blood tests (heel blood tests).

Diagnosis is made in children who show symptoms of thalassemia after birth or are brought in due to anemia.

Carriers have mild anemia and do not require treatment. In patients with the disease, there is severe anemia; a definitive diagnosis is made by complete blood count, hemoglobin electrophoresis, and genetic tests of the mother, father, and child. Diagnosis methods include:

Complete blood count Peripheral smear (Examination of blood cells) Hemoglobin electrophoresis Genetic screening (DNA Analysis) Thalassemia screening can also be done through blood tests and genetic tests at any age. Thalassemia carrier status can be determined through premarital blood tests in our country.

Especially in cases where both spouses are carriers, genetic counseling should be provided, and pre-pregnancy tests should be conducted.

Treatment of Mediterranean Anemia (Thalassemia)

The treatment of thalassemia involves the collaboration of experts from various fields since the disease affects various parts of the body. Patients are monitored and treatments are planned by Hematologists, Cardiologists, Endocrinologists, Psychologists, and Pediatric Surgeons.

Collaboration between the physician and the family is crucial for the regular continuation of treatment and not neglecting necessary tests.

Blood Transfusion

Individuals with Mediterranean anemia require regular blood transfusions throughout their lives. These transfusions can be repeated every month.

Due to the damage caused by thalassemia in the body, splenectomy may be necessary.

In untreated patients, conditions such as skeletal deformities, pathological fractures, fibrosis and cirrhosis in the liver, diabetes mellitus, decreased function of the thyroid and parathyroid glands, and sexual development disorders may occur. Accumulation of iron in the heart muscle can lead to heart failure, as well as increased pulmonary hypertension.

Therefore, monitoring for potential endocrine problems and regular imaging tests of organs such as the gallbladder, liver, and heart are crucial.

Iron Chelation Therapy

Regular blood transfusions necessary for the treatment of thalassemia lead to iron accumulation in the body, causing damage to many organs from the heart to the liver. Therefore, iron excretion is achieved through oral medications.

Stem Cell Transplantation

Currently, bone marrow transplantation is the definitive treatment for thalassemia. If a successful transplant is performed, the patient can continue life without the need for blood support and its associated side effects.

If a thalassemic patient has a suitable sibling (healthy or thalassemia carrier), bone marrow transplantation can be performed from the sibling. For the patient not to reject the bone marrow, the tissue types must be compatible. Therefore, the most suitable donor is the sibling. Compatibility is determined through some tests. After transplantation, a healthy marrow may produce erythrocytes containing normal hemoglobin, eliminating the need for blood transfusions.

The success rate of stem cell transplantation is 58% – 91%. Bone marrow, peripheral blood, or cord blood can be used as a source of stem cells, provided they are HLA-matched siblings/parents.

Gene therapy, which is still under research, is not yet applied to patients.

Additional Treatments

In addition to regular monitoring of iron levels during thalassemia treatment, patients should also be monitored for calcium and vitamin D deficiencies and receive supportive therapies when needed. All thalassemic patients must receive hepatitis A and B vaccines.

In terms of nutrition, a diet low in iron but rich in calcium and vitamins should be followed. However, this does not apply to thalassemia carriers.

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