What is Mediterranean Anemia (Thalassemia)?

Mediterranean anemia (thalassemia) is a genetic blood disorder. People with Mediterranean anemia cannot make enough hemoglobin, which causes severe anemia. Hemoglobin is found in red blood cells and carries oxygen to all parts of the body. When there is not enough hemoglobin in red blood cells, oxygen cannot reach all parts of the body. Organs may then fail or not function properly from lack of oxygen. You can find more information below.

What is Mediterranean Anemia?

Mediterranean anemia , also known as thalassemia ; is an inherited ( genetic ) blood disorder that causes the body to have less hemoglobin than normal . Hemoglobin enables red blood cells to carry oxygen. Mediterranean anemia (Thalassemia), as the name suggests, is closely related to anemia (anemia) and can leave the person tired.

If a person has mild Mediterranean anemia, they may not need treatment. But more severe forms may require regular blood transfusions. Besides, you can do activities such as eating a healthy diet and exercising regularly, and you can also take various steps to deal with fatigue.

Mediterranean Anemia Causes and Risk Factors

Mediterranean anemia (thalassemia) is caused by mutations in the DNA of cells that make hemoglobin (the substance in red blood cells that carries oxygen throughout your body). Mutations associated with Mediterranean anemia (thalassemia) are passed from parents to children.

Hemoglobin molecules are made of chains called alpha and beta chains, which can be affected by mutations. In Mediterranean anemia; Production of alpha or beta chains is reduced, resulting in alpha-thalassemia or beta-thalassemia.

In alpha-thalassemia, the severity of the thalassemia; depends on the number of gene mutations inherited from the parents. The more mutated genes mean the more severe the disease will be.

In beta-thalassemia, the severity of the thalassemia; It depends on which part of the hemoglobin molecule is affected.

Alpha-thalassemia

Four genes are involved in the construction of the alpha hemoglobin chain. In this disease, two genes are inherited from each of the parents (parents).

  • If there is a mutated gene, the symptom of Mediterranean anemia (thalassemia) will not occur. However, they become carriers of the disease and the offending gene can be passed on to the children of the affected person.
  • If there are two mutated genes, the symptoms will be mild. This condition may be called alpha-thalassemia trait.
  • If three mutated genes are present, symptoms will present as moderate to severe.
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It is rare for four mutated genes to be inherited and often results in stillbirth. Babies born with this condition die shortly after birth or require lifelong transfusion therapy. In rare cases, a child born with this condition may be treated with transfusions and a stem cell transplant.

Transfusion therapy; It includes reducing blood loss, increasing the oxygen carrying capacity in the blood, replacing blood cells and coagulation factors, as well as the treatment of serious types of anemia.

Beta-thalassemia

Two genes are involved in the construction of the beta hemoglobin chain. In this case, one gene is inherited from each of the parents.

  • If there is a mutated gene, the person concerned will have mild symptoms. This condition is called thalassemia minor or beta-thalassemia.
  • If two mutated genes are present, the symptoms will be moderate to severe. This condition is called thalassemia major or Cooley’s anemia .

Babies born with two defective beta hemoglobin genes are usually healthy at birth, but begin to develop symptoms within the first two years of life.

A milder form called thalassemia intermedia can also be caused by two mutated genes. However, the symptoms are not effective enough to cause thalassemia major. In addition, in these patients, the parents are carriers.

Who is at Risk?

The factors that increase the risk of this hereditary disease for individuals are:

  • Family history of the same disease: Mediterranean anemia (thalassemia) is passed from parents to children through mutated hemoglobin genes.
  • Certain strains: Mediterranean anemia (thalassemia) is most common in African Americans, people of Mediterranean and Southeast Asian descent.

Mediterranean Anemia Symptoms

As you can see above, there are several types of the disease. The signs and symptoms you have depend on the type and severity of your condition.

Symptoms of Mediterranean anemia (thalassemia) can generally include:

  • Tiredness
  • Weakness
  • pale or yellowish skin
  • Facial and bone deformities
  • slow growth
  • abdominal swelling
  • dark urine

Some babies show signs at birth; others begin to show symptoms in the first two years of life. Some people who have only a mutated hemoglobin gene have virtually no symptoms.

When Should You See a Doctor?

If you have the above symptoms of this genetic disease and you suspect such a situation, you should go to the doctor without wasting time.

Which Department (Doctor) Takes Care of Mediterranean Anemia?

Mediterranean anemia is handled by hematologists in the hematology department. Hematology is the branch that deals with blood diseases in the field of internal medicine, also known as internal medicine.

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How Is Mediterranean Anemia Diagnosed?

Most children with moderate to severe thalassemia show symptoms in their first two years of life. If the doctor suspects that the child has the disease, he or she can confirm the diagnosis with blood tests.

blood tests; can reveal the number of red blood cells and abnormalities in size, shape, or color. Blood tests can also be used for DNA analysis to look for mutated genes.

Prenatal test

Necessary tests can be done before birth to find out if a baby has Mediterranean anemia (thalassemia) and to determine how severe it may be. Tests used for diagnosis in fetuses include the following stages:

  • Chorionic villus sampling (CVS): Usually done at the 11th week of pregnancy, this test involves removing a small piece of the placenta for evaluation.
  • Amniocentesis: Usually done at 16 weeks of pregnancy, this test involves examining a sample of the fluid surrounding the fetus.

Mediterranean Anemia Treatment

Mild forms of Mediterranean anemia do not need any treatment. For its moderate to severe forms, treatment modalities may include:

  • Frequent blood transfusions: More severe forms of Mediterranean anemia (thalassemia) require frequent blood transfusions, possibly every few weeks. But over time, blood transfusions can cause extra iron to build up in your blood, which can damage the heart, liver, and other organs. That’s why you have to be careful.
  • Chelation therapy: This is treatment to remove excess iron from your blood. Iron can accumulate as a result of regular blood transfusions. Some people with Mediterranean anemia who do not have regular transfusions may develop excess iron. Removing excess iron is very important for health. You may need to take an oral medication such as deferasirox or deferiprone to help rid the body of extra iron. Another drug, deferoxamine, is given by injection. Remember, your doctor will decide which medicine to take and how.
  • Stem cell transplant: Also called a bone marrow transplant, in some cases a stem cell transplant may be an option. For children with severe Mediterranean anemia, it can eliminate the lifelong need for blood transfusions and medication to control iron overload. This procedure; It involves receiving an infusion of stem cells from a compatible donor, usually a sibling.

Lifestyle and Home Remedies

You can help manage thalassemia by following the treatment plan and adopting healthy living habits.

  • Avoiding excess iron: Vitamins or other supplements containing iron should not be taken unless recommended by the doctor.
  • Eating a healthy diet: A healthy diet can help patients feel better and increase their energy. The doctor may also recommend a folic acid supplement to help the body make new red blood cells. To keep bones healthy, make sure there is enough calcium and vitamin D in the diet.
  • Avoiding infections: Hands should be washed frequently and sick people should be avoided. This is especially important if the spleen has been removed (splenectomy). In addition to the annual flu shot, vaccines for these diseases will be needed to prevent meningitis (inflammation of the membrane surrounding the brain and spinal cord), pneumonia (pneumonia), and hepatitis B (liver inflammation-jaundice).
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Can Mediterranean Anemia Be Prevented?

In most cases, Mediterranean anemia (thalassemia) cannot be prevented. If a person has thalassemia or carries the related gene, they may consider speaking to a genetic counselor for guidance about having children.

In the early stages of development of fetuses combined with in vitro fertilization (in vitro fertilization), there is a form of reproductive technology diagnostics that screens embryos for genetic mutations. With this technology, parents with Mediterranean anemia or who are carriers of a defective hemoglobin gene can be helped to have healthy babies.

The procedure involves taking mature eggs and fertilizing them with sperm under laboratory conditions. Embryos are tested for defective genes and only those without the genetic defect are placed in the womb.

Mediterranean Anemia Complications

Possible complications of moderate to severe Mediterranean anemia may include:

  • Iron overload: People with Mediterranean anemia may have too much iron in their body, either from illness or from frequent blood transfusions. Too much iron; It can damage the heart, liver, and endocrine system, which includes the hormone-producing glands that regulate processes in the body.
  • Infection: Patients with Mediterranean anemia have a high risk of infection. This risk is especially true if the spleen has been removed (splenectomy).

In severe cases, the following complications may occur:

  • Bone deformities: The disease can enlarge the bone marrow, causing the bones to enlarge. This condition can cause abnormal bone structure, especially in the face and skull. Bone marrow enlargement also causes bones to be thin and brittle, increasing the chance of bone fracture.
  • Enlarged spleen: The spleen helps the body fight infection, filtering out unwanted substances such as old or damaged blood cells. Mediterranean anemia is often accompanied by the destruction of large numbers of red blood cells. This process causes the spleen to enlarge and work harder than normal. An enlarged spleen can worsen anemia and reduce the lifespan of transfused red blood cells. If the spleen becomes too large, the doctor may recommend surgery (splenectomy) to remove it.
  • Slow growth rates: Anemia can both slow a child’s growth and delay puberty.
  • Heart problems: Congestive heart failure and abnormal heart rhythms may be associated with Mediterranean anemia (thalassemia).

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