Thalassemia

 

Thalassemia: Causes, Symptoms, and Treatment

Thalassemia is an inherited blood disorder that results from low levels of hemoglobin and a reduced number of red blood cells. This leads to symptoms of anemia such as fatigue and weakness, as hemoglobin is the protein responsible for carrying oxygen throughout the body.

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Causes

Thalassemia occurs due to genetic mutations in the DNA of cells that produce hemoglobin.
These mutations are inherited from parents and cause a decrease in hemoglobin production and an increase in the destruction of red blood cells, leading to anemia.

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Symptoms

Common symptoms of thalassemia include:

• Slow growth

• Pale or yellowish skin

• Facial bone deformities

• Abdominal swelling

• Dark-colored urine

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Types of Thalassemia

Thalassemia is classified based on severity into:

1. Minor Thalassemia: Mild or no symptoms.

2. Intermediate Thalassemia: Moderate symptoms.

3. Major Thalassemia: Severe symptoms requiring regular treatment.

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Complications

• Increased risk of infections, especially after spleen removal.

• Delayed growth and puberty due to chronic anemia.

• Bone deformities caused by overproduction of bone marrow cells.

• Splenomegaly (enlarged spleen) due to the destruction of red blood cells.

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Prevention and Treatment

Thalassemia cannot be prevented, but genetic counseling can reduce the risk of transmission to offspring.
Treatment depends on severity and may include:

• Folic acid supplements

• Regular blood transfusions

• Stem cell transplantation for severe cases

• Splenectomy if necessary

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When to See a Doctor

Consult a doctor if your child shows signs of thalassemia, such as persistent fatigue, pale skin, or delayed growth.