Thalassemia is a chronic genetic disease that affects the body's ability to produce hemoglobin, which is responsible for transporting oxygen throughout the body. This requires ongoing treatment and close medical follow-up. Symptoms of the disease appear from the first months of a child's life and affect their growth and overall health.
What is thalassemia in children?
It is a genetic blood disorder that affects the production of hemoglobin, the protein in red blood cells responsible for transporting oxygen throughout the body. As a result of thalassemia, children develop chronic anemia due to the body's inability to produce sufficient amounts of healthy hemoglobin.
Causes of thalassemia in children
There are several factors that cause thalassemia in children, including:
- A genetic defect is the primary cause, where mutations or changes occur in genes.
- Consanguineous marriage increases the likelihood that a child will inherit the genes that cause the disease.
- Both parents carry the defective gene, even if they are not actually affected.
- Belonging to areas with a high geographical prevalence of the disease, such as the Mediterranean Basin and South Asia.
Symptoms in Affected Children
Symptoms vary depending on the severity of the condition and include:
- Paleness and yellowing of the skin.
- Constant fatigue and exhaustion.
- Poor appetite.
- Slow growth.
- Abdominal swelling due to an enlarged liver and spleen.
- Bone deformities, especially in the facial bones.
Methods for Diagnosing Thalassemia in Children
Children with thalassemia are diagnosed through:
- Complete blood count (CBC) to detect anemia.
- Hemoglobin electrophoresis.
- Genetic tests to determine the type of genetic mutation.
- Iron test to differentiate thalassemia from other types of anemia.
Possible Complications of Thalassemia
If thalassemia is not treated properly, it can lead to several complications, including:
- Failure to thrive in the child.
- Heart problems.
- Liver damage.
- Osteoporosis.
- Recurrent infections.
- Iron buildup in the body.
Medications Used to Treat Thalassemia in Children
Although thalassemia is not directly treated with medication, some medications can address symptoms and complications, including:
- Iron chelators, such as deferoxamine.
- Folic acid to improve red blood cell production.
- Antibiotics in cases of immunodeficiency.
Important Warning: Please do not take any medication without consulting and following up with your doctor.
Other Treatments for Thalassemia in Children with Medication
There are several other methods for treating thalassemia in children, including the use of medication, including:
Regular blood transfusions to replace the red blood cell deficiency.
Iron chelation therapy to reduce iron accumulation in the body resulting from blood transfusions.
Bone marrow transplantation is the only curative treatment to date, but it requires a matched donor.
Gene therapy is still under study but holds promise for the future.
Methods for Preventing Thalassemia in Children
There are several ways to prevent children from contracting thalassemia, including:
- Premarital genetic testing to detect gene carriers.
- Genetic counseling to determine the likelihood of having an affected child.
- Pre- or post-pregnancy screening to diagnose the condition early in the fetus.
How does thalassemia affect a child's life?
Thalassemia significantly impacts a child's quality of life, requiring frequent medical visits for blood transfusions. The child may suffer from psychological and social problems due to their physical appearance and academic difficulties due to frequent absences from school.
What is the difference between thalassemia minor and thalassemia major?
Thalassemia minor is a single-gene disorder, with mild or no symptoms. The anemia is mild and often does not require treatment.
Thalassemia major is a two-gene disorder, with severe symptoms including liver enlargement and bone deformities. The anemia is severe and requires ongoing treatment.
Article Summary
Thalassemia is a genetic blood disorder that affects hemoglobin production and leads to chronic anemia, which can be mild or severe. Its symptoms range from mild fatigue to serious health problems.
Diagnosis is made through blood tests and genetic testing. Treatment includes blood transfusions, iron removal, and bone marrow transplantation. Premarital genetic testing is also performed for prevention. Thalassemia affects a child's daily life due to the severity of its symptoms and resulting complications. However, with medical and psychological support, an affected child can lead a stable life.