Investigations
1st investigations to order
FBC
Test
Should be ordered in all patients.
Variable degree based on age at diagnosis and clinical phenotype. More severe in beta-thalassaemia major diagnosed in late infancy.
Usually the WBC count and platelets may be somewhat elevated because of bone marrow hyperplasia.
All blood counts may be lower in patients with greater degrees of splenomegaly because of hypersplenism.
Result
microcytic anaemia, normal to elevated leukocyte and platelet counts from generalised haematopoietic hyperactivity, all decreasing as the spleen enlarges
peripheral smear
Test
Should be performed in all patients.
Result
microcytic red cells, tear drops, microspherocytes, target cells, some fragments, large number of nucleated red cells
reticulocyte count
Test
Should be performed in all patients.
Result
elevated (variable, corresponding to severity)
haemoglobin analysis
Test
Should be performed in all patients. May be ordered by generalist or haematologist.
Newborn screening haemoglobin analysis is standard in many resource-rich countries.
A pattern of Hb F and Hb E is suggestive of a compound heterozygous state for Hb E beta-thalassaemia, and the patient will probably have an intermedia phenotype.
Result
beta-thalassaemia major: minimal to no Hb A, elevated Hb F and HbA2; beta-thalassaemia intermedia: decreased Hb A, elevated Hb F and HbA2; beta-thalassaemia trait: mostly Hb A, elevated Hb F and HbA2
LFTs
Test
Performed in patients with beta-thalassaemia major and intermedia.
There may be mild to moderate hyperbilirubinaemia, most of it unconjugated.
Variable elevation corresponding to severity.
Result
elevated total and unconjugated bilirubin, elevated LDH
plain x-rays of skull
Test
Performed in patients with beta-thalassaemia major and intermedia.
Widening of the diploeic space with a 'hair on end' appearance. Facial deformity and non-pneumatisation of the maxillary sinuses.
Result
widening of the diploeic space, facial deformity
abdominal ultrasonography
Test
Performed in patients with beta-thalassaemia major and intermedia.
Enlargement of the liver and spleen of variable degree depending on the age of the child and the severity of the clinical syndrome. In older people with the intermediate phenotype (particularly thal-Hb E), gallstones or gallbladder sludge may be seen because of increased turnover of abnormal red blood cells.
Result
liver and spleen enlargement
plain x-rays of long bones
Test
In older people who have the intermediate phenotype there may be widening of the diploeic space, evidence of osteopenia, and consequent pathological fractures.
Result
widening of the diploeic space, evidence of osteopenia
Investigations to consider
genetic testing
Test
Usually ordered by haematologist.
Result
confirms diagnosis and useful for future family screening
HLA typing
Test
If stem cell transplantation is a consideration. Usually ordered by haematologist.
Result
degree of match between patient and siblings
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