Thalassemia or Mediterranean anemia

Thalassemia is a blood disease that generates anemia. It is passed down to children from one or both parents through their genes. The body of those with thalassemia produces less hemoglobin than normal (hemoglobin is an iron-rich protein that in red blood cells carries oxygen to all parts of the body).

Thalassemia can cause mild or severe anemia. The severity and type of anemia depend on how many genes are involved.

Different types of thalassemia

Depending on the hemoglobin chains involved, there are two main types of thalassemia: alpha thalassemia in which the synthesis of the α chain is reduced, beta thalassemia also called Mediterranean anemia, in which the synthesis of the chain of the β chain is reduced.

  • Hemoglobin, which carries oxygen to all cells in the body, is made up of two different parts called alpha and beta.
  • With reference to the part of hemoglobin that is not produced, a thalassemia defined as alpha or beta.
  • If its alpha part or its beta part is not produced, there are not enough building blocks to produce normal amounts of hemoglobin.
  • Alpha thalassemia is impaired synthesis of alpha chains.
  • Beta thalassemia is impaired synthesis of beta chains.

Talking about the different types of thalassemia we can refer,

  1. and the specific part of hemoglobin that is affected (alpha or beta usually)
  2. both of its severity, for which we speak of thalassemia minor (or minor), thalassemia major (or major), etc.

The words minor, intermediate, or major trait describe how severe the thalassemia is.

A person with thalassemia trait may have no symptoms or may have only mild anemia, while a person with thalassemia major may have severe symptoms and may also need regular blood transfusions.

Alpha thalassemia

Four genes are involved in the formation of the alpha hemoglobin chain. From each of our parents we get two.

If you inherit a mutated gene, you have no signs or symptoms of thalassemia. But who is a carrier of the disease, you can pass it on to your children.

Beta thalassemia or Mediterranean anemia

Two genes are involved in the formation of the beta hemoglobin chain. We get one from each of our parents.

  1. If we inherit a mutated gene, we will have mild signs and symptoms. This condition is called thalassemia minor or beta-thalassemia.
  2. If we inherit two mutated genes, the signs and symptoms will be moderate to severe. This condition is called thalassemia major or Cooley’s anemia. Children born with two defective hemoglobin beta genes are usually healthy at birth but develop signs and symptoms within the first two years of life. A milder form, called thalassemia intermedia, can also result from two mutated genes.

There are multiple types of beta thalassemia.

  1. The most serious type is thalassemia major (or Cooley’s disease). People with this condition will need frequent blood transfusions. They may not live normal lives. Its symptoms appear in the first two years of life and include pale skin, poor appetite, irritability, and failure to thrive. Adequate treatment includes routine blood transfusions and other therapies.
  2. Other types are beta thalassemia intermedia and hemoglobin H disease.

Beta thalassemia is most common in people of Mediterranean Basin origin (hence the name Mediterranean anemia ), the Middle East, Southeast Asia and India.

It is also possible for a person to be a carrier of beta thalassemia. Being a carrier of beta thalassemia generally does not cause health problems, but the possible risk of having children with thalassemia remains.

Risk factors

Thalassemia is a genetic disease inherited from one or both parents. His only risk factor is a family history of the disease.

Thalassemia is therefore hereditary because in reality it is exclusively transmitted from healthy carrier parents to their children.
With each pregnancy, two parents who are healthy carriers risk transmitting the disease to their child in 25% of cases.
In the event that one parent is ill and the other carrier is healthy, this unfortunate probability rises to 50%.

Symptoms

As for symptoms, different people will have different symptoms, based on the type of thalassemia they have inherited.

Symptoms of thalassemia appear in the first two years of life and include pale skin, poor appetite, irritability, and failure to thrive. Adequate treatment includes routine blood transfusions and other therapies.

Diagnosis

Diagnosis is based on clinical observation. It usually occurs in the first years of life, when clinical signs of severe anemia, failure to thrive, tiredness, and pallor are noted in a child.

Diagnostic confirmation is obtained through clinical and biochemical analyzes on the quantity and type of globin chains present in the blood (blood count and hemoglobin electrophoresis), analyzes then accompanied by genetic tests.

Knowing the mutations present in the parents, it is possible to make a prenatal diagnosis by means of CVS .

Treatments

Silent thalassemia or alpha-thalassemia trait does not require treatment and its prognosis is very good.
Instead, a specific treatment is required for its other forms.

Treatment that can be constituted,

  • from blood transfusions: regular blood transfusions treat and prevent anemia; in the most serious cases these transfusions are necessary about once a month.
  • from chelation therapy: taking medicines to remove excess iron from the body that builds up as a result of regular blood transfusions. Some people with thalassemia have iron accumulation even without transfusions.

Eating a healthy diet, getting regular physical activity, not smoking or drinking too much alcohol can also help you stay as healthy as possible.

The only possible cure for thalassemia is a stem cell or bone marrow transplant, but this is not done very often due to the risks involved.

Katherine Johnson, M.D., is a board-certified obstetrician-gynecologist with clinical expertise in general obstetrics and gynecology, family planning, women’s health, and gynecology.

She is affiliated with the Obstetrics and Gynecology division at an undisclosed healthcare institution and the online platform, Maternicity.com.

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