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Thalassemia (Pediatric)

Disorders in hemoglobin chain synthesis lead to chronic hemolytic anemia.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Çocuk Sağlığı ve Hastalıkları department. Book Appointment →

What is Thalassemia (Pediatric)?

Thalassemias are autosomal recessive hemoglobinopathies in which hemoglobin synthesis is impaired due to alpha or beta globin gene mutations. Turkey is a country with high incidence of thalassemia; frequency increases especially in the Aegean, Mediterranean, and Southeastern Anatolian regions.

Beta thalassemia major (Cooley's anemia), with mutations in both beta globin genes, results in severe hemolytic anemia, bone marrow hyperplasia, hepatosplenomegaly, and the 'thalassemic facies' picture. Transfusion-related iron overload (hemosiderosis) is the main complication.

Thalassemia carrier state (minor) usually does not cause symptoms; it is important to inform carrier couples and offer prenatal diagnosis options (CVS or amniocentesis).

Symptoms

Pale, jaundiced appearance (anemia and hemolysis)
Abdominal swelling (hepatosplenomegaly)
Growth and developmental delay
Bone deformities (frontal bossing, depressed nasal bridge - in untreated cases)
Chronic fatigue and loss of appetite
Iron overload effects: cardiac, hepatic, and endocrine organ involvement

Risk Factors

Both parents being thalassemia carriers
Mediterranean and Aegean regions in Turkey
Consanguineous marriage
Not using prenatal diagnosis programs
Iron overload in patients not receiving regular transfusion
Poor adherence to chelation therapy

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • In a pale and jaundiced infant or child
  • When growth retardation and splenomegaly are detected
  • When hemoglobin electrophoresis gives abnormal results
  • For genetic counseling in pregnancy planning of thalassemia carrier couples

Treatment Methods

01
Regular red cell transfusion: targeting hemoglobin ≥9-10 g/dL every 2-4 weeks
02
Iron chelation therapy: deferoxamine (SC infusion) or deferasirox (oral)
03
Folic acid support
04
Splenectomy: when the spleen becomes very large or transfusion needs increase markedly
05
Hematopoietic stem cell transplant: curative in young patients with suitable donors

Which Department to Visit?

You can visit our Çocuk Sağlığı ve Hastalıkları department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Çocuk Sağlığı ve Hastalıkları Department

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.