Test description
Alpha-thalassaemia is a recessive haematological disorder characterised by defects in the production of alpha globin chain of the haemoglobin molecule that decrease normal haemoglobin production with resulting microcytic hypochromic anaemia. The disease typically results from deletions involving the HBA1 and HBA2 genes, though other less frequent mutations can also cause the disorder.
Test information
Alpha Thalassemia
To identify the underlying genetic cause in patients with haematological and laboratory evidence of thalassaemia, for diagnostic and reproductive planning purposes.
HBA1 and HBA2 for detection of -alpha3.7, -alpha4.2, –SEA, –FIL, –THAI, -alpha20.5 and –MED deletion variants, plus rare or novel 1 or 2 gene deletions and HBA1 and HBA2 sequence variants.
Gap PCR and Nanopore amplicon sequencing
3 – 4 weeks
If not MBS eligible, please contact 1800 822 999 for details
Standard pathology request form
Blood
EDTA tube
Prior haematological evidence of thalassaemia (e.g. FBC and film including HBH, iron studies, Hb EPG) must be available prior to testing