Anemia is a common disease worldwide, affecting about 30% of the world's population. The incidence rate is increasing in developing countries, but this does not mean that anemia is largely absent in developed countries. Types of anemia vary due to different causes, and in this article from Dalili Medical, we will discuss one of the most famous types of anemia, which is Mediterranean anemia or thalassemia.

What is Mediterranean anemia or thalassemia?

 

Mediterranean anemia, also known as thalassemia, is a genetic disorder that affects the blood, where the body produces an abnormal type of red blood cells and hemoglobin. Hemoglobin is a protein found in red blood cells, and it carries oxygen to all parts of the body.

If you suffer from Mediterranean anemia, this means that your body produces less healthy hemoglobin proteins, and your bone marrow produces fewer healthy red blood cells. A condition in which the number of red blood cells is lower than normal is known as anemia.

Since red blood cells play a vital role in delivering oxygen to the body’s tissues, a deficiency of these healthy cells can deprive the body of the oxygen it needs to generate energy and grow.

Thalassaemia minor is a less severe form of the disorder, while there are two main types of thalassemia that are more severe: alpha thalassemia and beta thalassemia.

Can thalassemia be prevented?

 

No, thalassemia cannot be prevented because it is an inherited condition (passed from parents to children through genes). However, tests can be performed during pregnancy to detect these blood disorders before birth.

Is there a relationship between thalassemia and premarital screening?

 

Yes, this test is one of the most important tests recommended before marriage for both men and women, in order to avoid having a child with thalassemia. This test shows whether one of the parents carries the gene for the disease. If one of the parents carries the gene, the marriage can be completed, but if both parents carry the gene, it is not recommended to complete the marriage due to the increased chance of the child being affected by the disease. Genetic tests have developed to determine whether the fetus is sick, a carrier, or a carrier of the gene.

**Does thalassemia affect pregnancy?**

 

In some cases, thalassemia can be considered one of the causes of delayed pregnancy. In this case, it is important to consult fertility doctors to discuss the condition in detail.

**What foods are suitable for a patient with thalassemia?**

 

Patients with thalassemia should eat foods rich in vitamin E, such as nuts, grains, and eggs. Olive oil is also an excellent choice. Calcium is an essential mineral for building and maintaining strong bones and teeth, and is especially important for people with thalassemia due to several factors that lead to weak bones.

**Does thalassemia cause death?**

 

Severe cases of thalassemia can lead to early death, which may occur between the ages of 20 and 30, as a result of heart muscle failure.

What happens if thalassemia is left untreated?

 

Untreated thalassemia can lead to a number of complications, including:

. **Iron accumulation**: which may damage the heart, liver, and glands responsible for secreting hormones necessary to regulate body functions.

. **Increased risk of infection**: especially after splenectomy.

. **Bone deformities**: as a result of bone marrow expansion, which leads to increased bone thickness, especially in the face and skull area, in addition to thinning of the bones and increasing their fragility, making them more susceptible to fracture.

. **Splenomegaly**: due to the high number of red blood cells that are destroyed in people with thalassemia, which may lead to worsening of the anemia.

. **Delayed growth in children and delayed puberty**.

**Causes of thalassemia**
Hemoglobin consists of four protein chains, including two alpha globin chains and two beta globin chains. Each alpha and beta chain contains genetic information or genes that are passed on from the parents. Thalassemia, also known as Mediterranean anemia, is caused by an abnormality or mutation in one of these genes responsible for producing hemoglobin.

Alpha globin protein chains consist of four genes, with each parent contributing two genes. While beta globin protein chains consist of two genes, one from each parent. The type of thalassemia you may have depends on whether the alpha chain or beta chain has a genetic defect, and the severity of this defect determines the severity of the condition.

**Types of Mediterranean anemia**

There are several types of Mediterranean anemia based on the genetic mutations that the patient inherits, the most prominent of which are:

**Alpha Mediterranean anemia**This type is caused by mutations that affect the genes responsible for producing alpha globin, which consist of four genes. This type can be divided into the following categories:

- **Single gene infection**: The patient does not show any symptoms, but becomes a carrier of the disease, which means that he can pass it on to his children.

- **Two gene infection**: The patient shows mild symptoms.

- **3-gene infestation**: The disease in this case is known as hemoglobin H disease, and leads to more severe symptoms.

- **4-gene infestation**: The disease in this case is called alpha-thalassemia major or hydrops fetalis, and the affected child is often in poor health and does not live long after birth.

Beta-thalassemia This type occurs as a result of genetic mutations that affect the two beta globin genes. This type is divided into the following categories:

1. Single-gene infestation: The patient shows mild symptoms, butHe becomes a carrier of the disease and can pass it on to his children.

2. Two genes are affected: In this case, the disease is known as major thalassemia, where the severity of the symptoms that may appear on the patient varies from moderate, requiring occasional blood transfusions, to very severe, which may be life-threatening.

**Symptoms of thalassemia**

The symptoms of thalassemia vary slightly depending on the type of disease and the nature of the individual. There may be no symptoms if the alpha gene is missing, or if there is a loss of one alpha gene or one beta gene. In some cases, you may experience mild symptoms of anemia, such as feeling tired.

**Mild to moderate symptoms** Beta thalassemia intermedia can cause mild symptoms of anemia, or the following symptoms may appear:

- Growth problems.

- Delayed puberty.

- Bone abnormalities, such as osteoporosis.

- Enlarged spleen.

**Severe symptoms** Usually, the loss of three alpha genes leads to symptoms of anemia at birth, causing severe anemia that lasts a lifetime. Beta thalassemia major, also known as Cooley's anemia, causes severe anemia symptoms that can be noticed by the age of two.

Symptoms of severe anemia include those associated with mild to moderate conditions, such as:

- Poor appetite.

- Paleness and yellowing of the skin (jaundice).

- Tea-colored dark urine.

- Facial structure deformities.

**Complications of Mediterranean anemia**Mediterranean anemia causes iron to accumulate in the body as a result of repeated blood transfusions, which may negatively affect vital organs such as the liver, increasing the risk of hepatitis and cirrhosis. This accumulation can also affect the heart, leading to heart rhythm disturbances or even cardiac arrest.

In addition, the accumulated iron affects the endocrine glands, especially the pituitary gland, which is very sensitive to this accumulation, which may lead to delayed growth and puberty in the child. This situation also increases the child's likelihood of developing diabetes later in life, in addition to thyroid disorders.

The immune system can also attack unjustified transfused blood cells, leading to an attempt to destroy them.

Splenomegaly is also a common complication, as the spleen has difficulty breaking down abnormal red blood cells in thalassemia patients, leading to their accumulation and splenomegaly.

As for bone deformities, the spinal cord may expand inside the bones, leading to deformities especially in the bones of the skull and face, making the bones more fragile and increasing the risk of fracture.

**Mediterranean anemia test** Symptoms of thalassemia appear in affected children at the age of two years at most, while individuals carrying the gene may not be able to discover it until one of their children is diagnosed.

Confirmation of thalassemia is done through the following tests:

1) **Complete blood count**: This test reveals the percentage of hemoglobin in the blood, in addition to the level and size of red blood cells.

2) **Reticulocyte count**: This test helps determine the rate of red blood cell production from the marrow.

3) **Iron level measurement**: This test is used to determine the cause of anemia, whether it is due to iron deficiency or other causes.

4) **Genetic tests**: We may need this test to detect the presence of genes associated with thalassemia.

5) **Prenatal tests**: A sample of the amniotic fluid can be examined to determine whether the fetus will suffer from thalassemia.

**Treatment of thalassemia**

The doctor determines the most appropriate treatment for the patient based on the type and severity of his condition:

1) **Blood transfusion**: This method aims to increase the levels of hemoglobin and red blood cells. The number of blood transfusions required varies depending on the patient's condition; cases of thalassemia major require blood transfusions from 8 to 12 times per year, while less severe cases require a maximum of 8 times per year. The need for blood transfusion may increase in cases of psychological stress, infection, or when suffering from a health problem.

2) **Removal of excess iron**: Repeated blood transfusions can lead to iron accumulation in the body, which can cause damage to organs. Therefore, the doctor prescribes medications such as deferasirox to help remove excess iron.

3) **Folic acid**: Folic acid plays an important role in the formation of red blood cells.

4) **Bone marrow transplant**: If there is a suitable donor, bone marrow transplant is considered a radical solution for severe cases.

5) **Surgical intervention**: Surgical intervention is used in some cases to treat any bone deformities.

6) **Gene therapy**: Gene therapy is a modern method, and it involves introducing a healthy gene to improve the patient's condition.