Thalassaemia
Description Diagnostic criteria Medicine treatment Referral ICD-10 code: D56 DESCRIPTION Hereditary single gene defect causing abnormal production or translation of beta-globin mRNA, resulting in foetal haemoglobin (HbF) production. Presents with pallor, jaundice, fever, failure to thrive, abdominal distension hepatosplenomegaly, and skeletal changes. DIAGNOSTIC CRITERIA Investigations Micr
Description
Diagnostic criteria
Medicine treatment
Referral
ICD-10 code: D56
DESCRIPTION
Hereditary single gene defect causing abnormal production or translation of beta-globin mRNA, resulting in foetal haemoglobin (HbF) production. Presents with pallor, jaundice, fever, failure to thrive, abdominal distension hepatosplenomegaly, and skeletal changes.
DIAGNOSTIC CRITERIA
Investigations
- Microcytic hypochromic anaemia.
- Haemoglobin electrophoresis.
- Genetic studies.
- Family screening.
MEDICINE TREATMENT
β-Thalassaemia major – homozygous:
- Regular blood transfusions to maintain Hb between 9.5 and 14 g/dL.
REFERRAL
- All cases for confirmation of diagnosis and a comprehensive care transfusion program.
- For consideration of chelation therapy once ferritin > 1000 ng/mL (generally after having received 20–25 units of PRCs).
Standard Treatment Guidelines and Essential Medicines List for South Africa Paediatric Hospital_2023 edition_Updated February 2025
Chapter 3: Blood and Blood-Forming Organs, 3.2.1 Thalassaemia