Genetic defects in beta globin causing anemia, HBB gene mutations.
Beta Thalassaemia is a recessive haematological disorder caused by defects in the production of the beta globin chain of the haemoglobin molecule, caused by mutations in the HBB gene. The severity of the disease depends on variations involved and their presence on one (heterozygous) or both (homozygous) alleles. Other laboratory finding can include microcytic, hypochromic anaemia, and a raised HbA2 on haemoglobin electrophoresis.
Beta Thalassemia
To identify the underlying genetic cause in patients with haematological and laboratory evidence of thalassaemia, for diagnostic and reproductive planning purposes.
HBB for sequence variants and 619bp deletion variant
GAP PCR and Sanger sequencing
2 – 4 weeks
No
$225
Standard pathology request form
Blood
6mL EDTA tube
Prior haematological evidence of thalassaemia (e.g. FBC and film, iron studies, Hb EPG) must be available prior to testing
