Thalassemia affects approximately 4.4 out of every 10,000 newborns worldwide. It is a genetic blood disorder, that affect hemoglobin production and causes anemia symptoms. Here is detailed information about thalassemia. (1)


What is thalassemia?

  • Thalassemia, or Mediterranean anemia, is a genetic blood disorder that affects the body's production of hemoglobin (a protein found in red blood cells).
  • Hemoglobin consists of four protein chains: two alpha globin chains and two beta globin chains. A gene that is passed down from the parents controls each protein chain.
  • If any of these genes are defective or missing, hemoglobin levels will be low, and there will not be enough building units to produce normal amounts of hemoglobin, causing thalassemia, and symptoms of anemia. (2)


Types of thalassemia

There are two main types of thalassemia, with their severity varying based on the type and number of genes inherited from the parents: (3)



Alpha thalassemia

Beta thalassemia

The part of hemoglobin that is not synthesized

Alpha globin protein

Beta globin protein

Number of genes

Four alpha globin genes; Two from the father and two from the mother

Two types of beta globin genes; One from the father and the other from the mother

Severity of the disease (depends on the number of genes affected)

One gene: There are no symptoms (the most common), and he is a carrier of the disease (he may transmit it to his children and increase the risk of infection).

2 genes: Minor symptoms.

3 genes: Moderate symptoms.

4 genes: A very serious condition that is often fatal before birth.

One gene: Minor symptoms.

2 genes: Moderate to severe symptoms, developing during the first two years of life.




The type of thalassemia a person has depends on the number and type of thalassemia traits inherited or received from their parents: (2)

  • Minor Thalassemia: If a person inherits a normal gene from one parent and an affected gene from the other.
  • Major Thalassemia: If a person inherits two abnormal genes; one is from his mother and the other is from his father.


Symptoms of thalassemia

The symptoms of thalassemia can range from mild to severe, and some people may not experience any symptoms, especially carriers of the disease. Common signs in people with thalassemia include: (4)

  • Fatigue and weakness.
  • Pale or yellowing of the skin.
  • Shortness of breath.
  • Feeling cold.
  • Slow growth and development in children.
  • Facial bone deformities.





If you notice any of these symptoms, do not hesitate to consult pediatricians at Al-Ahli Hospital. Book your appointment today to reassure your child's health, with a distinguished medical staff!




At what age do symptoms of thalassemia appear?

The onset of symptoms varies among individuals; they may appear at birth for some, within two years of birth for others, or may not appear at all. (4)


How is thalassemia diagnosed?

  • Moderate and severe thalassemia are often diagnosed in childhood because symptoms usually appear during the first two years of life. (5)
  • The doctor recommends different blood tests to diagnose thalassemia, Most notable: (5)
  • Complete blood count (CBC): To measure the number of red blood cells, their size, and hemoglobin content.
  • Number of reticulocytes (young red blood cells: Reticulocytes): To measure the speed of red blood cell production.
  • Iron stock: To measure the amount of iron in the body.


  • In some cases, the doctor may use: (5)
  • Electrolysis of hemoglobin: To determine the type of hemoglobin present in red blood cells.
  • Genetic tests: To confirm the diagnosis of thalassemia and determine its type.

 

Treatment of thalassemia

  • Although there is no definitive cure for thalassemia However, available options can help manage the condition and improve quality of life. (3)


  • Mild cases may not require treatment, while severe cases need specific treatments, such as: (3)
  • Blood transfusions: To increase hemoglobin levels in the blood.
  • Chelation: It gets rid of excess iron in the body.
  • Bone marrow transplant: In very severe cases.
  • Folic acid supplements: To enhance the production of red blood cells.


  • Recently, Luspatercept injection has been approved which given every three weeks to increase the production of red blood cells, in the case of beta thalassemia.


  • With appropriate treatment and management, People with thalassemia can live a fulfilling life. (3)


Can thalassemia be prevented?

  • You cannot prevent thalassemia because it is a genetic disease.
  • However, one of the reproductive techniques, such as Preimplantation Genetic Diagnosis (PGD), can help select only healthy embryos for implantation in the mother's womb.
  • Individuals who carry thalassemia advised to seek genetic counseling before conception to discuss risks and options. (4)


Can a thalassemia patient get married?

Having thalassemia in itself does not necessarily hinder marriage. With proper management, those affected can live a normal life and give birth to healthy children. A thalassemia patient may enjoy good reproductive health if proper care is taken from the beginning of the patient's life.

However, if two people with thalassemia are married, the chances of having children are: (6)

  • Children infected with the disease (25%).
  • Healthy children (25%).
  • Children who are carriers of the disease without having it (50%).






The Fertility and IVF Center at Al-Ahli Hospital offers pre-marital medical screening and various types of assisted reproductive technologies, conducted by top experts using the latest techniques. Book your appointment today and receive a comprehensive consultation.




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