Mediterranean anemia or thalassemia (Thalassemia) is a chronic hereditary blood disease that affects the production of hemoglobin, the essential protein in red blood cells responsible for transporting oxygen from the lungs to the body's tissues and organs.
When the production of healthy hemoglobin decreases, the bone marrow secretes incomplete or weak red blood cells that die quickly, which leads to a decrease in the number of red blood cells and the occurrence of anemia that may be mild or severe.
What is Mediterranean anemia?
- A hereditary disease that is transmitted from parents to children through genes.
- It causes a defect in the formation of the hemoglobin chains (alpha or beta).
- This leads to:
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- A decrease in the production of red blood cells.
- A shortening of the lifespan of red blood cells (they break down quickly).
- A decrease in the amount of oxygen that reaches the body's cells.
As a result, the patient suffers from anemia-like symptoms such as fatigue, exhaustion, and pallor of the face, and in severe cases may need frequent blood transfusions and specialized treatments.
Causes of Mediterranean anemia
Hemoglobin is made up of four protein chains: two alpha globin chains and two beta globin chains. Each of the alpha and beta chains contains hereditary information or genes transmitted from the parents. Thalassemia or Mediterranean anemia occurs when there is an abnormality or mutation in one of these genes involved in the production of hemoglobin.
- The alpha globin protein chains are made up of four genes, two from each parent.
- The beta globin protein chains are made up of two genes, one from each parent.
The type of thalassemia you have depends on whether the alpha chain or the beta chain contains a genetic defect. The extent of the defect will determine how serious the condition is.
Types of thalassemia
1. Thalassemia minor
- The mildest form.
- Usually does not cause serious symptoms.
- It may appear only as mild anemia that is discovered through routine tests.
- It does not need intensive treatment, but it is important to detect it before marriage to prevent the transmission of the disease to the children.
2. Alpha Thalassemia
- It results from a defect in the genes responsible for producing the alpha chains in hemoglobin.
- The level of severity of the disease depends on the number of affected genes (out of 4 genes):
- Loss of one gene: almost no symptoms.
- Loss of two genes: mild anemia.
- Loss of 3 genes: moderate to severe anemia (called HbH disease).
- Loss of 4 genes: a condition that is often fatal before birth (Hydrops fetalis).
3. Beta Thalassemia
- It results from a defect in the production of beta chains.
- Its severity depends on the number of affected genes:
- Beta thalassemia minor (Minor): mild symptoms or no symptoms.
- Beta thalassemia intermedia (Intermedia): moderate symptoms, the patient may need a blood transfusion at some times.
- Beta thalassemia major (Major): the most serious form and appears in early childhood; the patient needs periodic blood transfusions and long-term treatment.
- Symptoms of thalassemia disease
The symptoms of Mediterranean anemia disease may differ slightly depending on its type and the nature of the person. It is possible that no symptoms appear when an alpha gene is lost, or if you are missing two alpha genes or one beta gene. Or you may have mild anemia symptoms, such as fatigue.
Symptoms of Mediterranean anemia
The symptoms vary according to the type and severity of the thalassemia:
Common symptoms:
- Continuous fatigue and exhaustion.
- Pallor of the face.
- Shortness of breath with exertion.
- Dizziness or frequent headaches.
- Weak appetite.
Symptoms in moderate and severe cases:
- Yellowing of the skin (jaundice).
- Slow growth in children.
- Weakness and deformity of the bones (especially the bones of the face and skull).
- Enlargement of the liver or spleen.
- Osteoporosis.
Diagnosing thalassemia disease
Moderate and severe thalassemia is often diagnosed in childhood because the symptoms usually appear during the first two years of a child's life.
Your healthcare provider may order various blood tests to diagnose Mediterranean anemia disease.
- Complete blood count - CBC: which includes measurements of hemoglobin and the quantity and size of red blood cells, and the analysis shows that people with thalassemia have fewer healthy red blood cells and lower-than-normal hemoglobin, and they may also have smaller-than-normal red blood cells.
- Reticulocyte count - measuring nascent red blood cells: this test indicates that the bone marrow is not producing enough red blood cells.
- Iron level tests: iron studies indicate whether the cause of the anemia is iron deficiency or thalassemia.
- Electrophoresis - Hemoglobin electrophoresis: used to diagnose beta thalassemia.
- Genetic testing: used to diagnose alpha thalassemia.
Treatment options for Mediterranean anemia
The treatment of thalassemia depends on the type of disease and its severity; the doctor will give you the treatments that will work best for your particular condition.
The standard treatments for major thalassemia are blood transfusions and iron chelation.
Blood transfusion
A blood transfusion involves receiving injections of red blood cells through a vein to restore normal levels of healthy red blood cells and hemoglobin. You will receive a blood transfusion every four months with moderate or severe thalassemia, and with beta thalassemia major, every two to four weeks.
Blood transfusions may be needed from time to time for hemoglobin H disease or beta thalassemia intermedia, for example, during times of infection.
Iron chelation
This process involves removing heavy metals and removing excess iron from the body. This is because one of the risks of blood transfusions is that they can cause an increase in iron, which may lead to organ damage.
So if you are receiving frequent blood transfusions, you will receive an iron chelation treatment - which you can take as pills.
Folic acid supplements
Folic acid supplements can help your body produce healthy blood cells.
Bone marrow and stem cell transplant
A bone marrow and stem cell transplant from a related donor is considered the only treatment to cure thalassemia, as compatibility means that the donor has the same types of proteins, called human leukocyte antigens (HLA), on the surface of their cells as the person receiving the transplant.
Your healthcare provider will inject the bone marrow stem cells from the donor into the bloodstream during the procedure. The transplanted cells will begin to form new, healthy blood cells within one month.
Luspatercept medication
It is an injection given every three weeks and can help your body produce more red blood cells. It has been approved in the United States for the treatment of transfusion-dependent beta thalassemia.
The diet for thalassemia
There is no single diet that can cure thalassemia disease, but making sure to eat the right foods can help in treatment.
A plant-based, low-fat diet is considered the best option for most people, including those with thalassemia. However, you may need to limit iron-rich foods if you already have high levels of iron in the blood, so you may need to limit iron-rich fish and meat in your diet. It is preferable to avoid fortified cereals, bread, and juices, as they also contain high levels of iron.
Thalassemia disease can cause a deficiency of folic acid, which is found naturally in foods such as dark leafy vegetables and legumes.
Since Mediterranean anemia is a hereditary disorder, it cannot be prevented, but genetic testing can reveal whether you or your partner carries the gene. Knowing this information can help you if you are planning to become pregnant.