Genetic syndrome of ineffective erythropoiesis caused by mutations of the beta-globin gene.
Spectrum of severity from asymptomatic to severe anaemia and skeletal changes.
Blood transfusions are required for beta-thalassaemia intermedia and major, but are associated with iron overload complications.
Stem cell transplantation offers cure.
Beta-thalassaemia is an inherited microcytic anaemia caused by mutation(s) of the beta-globin gene leading to decreased or absent synthesis of beta-globin, resulting in ineffective erythropoiesis.
The genotypic spectrum includes homozygous and heterozygous defects, resulting in a phenotypic spectrum ranging from transfusion dependence to the asymptomatic carrier state.
Compound heterozygosity of beta-thalassaemia with haemoglobin E mutations results in a phenotype more severe than either beta-thalassaemia trait or haemoglobin E mutations alone, similar to beta-thalassaemia major or intermedia.
History and exam
Key diagnostic factors
- country of origin or ancestry
- family history
Other diagnostic factors
- abdominal distension
- failure to gain weight
- low height and weight
- spinal changes
- large head
- chipmunk facies
- misaligned teeth
- positive family history
1st investigations to order
- peripheral smear
- reticulocyte count
- haemoglobin analysis
- plain x-rays of skull
- abdominal ultrasonography
- plain x-rays of long bones
Investigations to consider
- genetic testing
- HLA typing
beta-thalassaemia intermedia: non-transfusion-dependent
beta-thalassaemia intermedia: transfusion-dependent
- Congenital dyserythropoietic anaemia (CDA)
- Pyruvate kinase (PK) deficiency
- Mild iron deficiency anaemia
- A short guide for the management of transfusion dependent thalassaemia
- Guidelines for the management of non transfusion dependent thalassaemia, 2nd edition
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