Assessing unknown sequence variations in thalassaemia diagnosis

Kerryn M Weekes1, Wendy M Hutchison 1, Jeremy N Wells 1, Nicholas Clarke 1, Anastasia Adrahtas1, Lily Li 1, Jesse Pinguinha 1, Asif Alam1, Elizabeth Algar 2, Zane Kaplan.3

1 Thalassaemia and Haemophilia Molecular Reference Laboratory, L3 Monash Medical Centre 246 Clayton Rd Clayton Vic 3168, Email:
2 Genetics and Molecular Pathology, L3 Monash Medical Centre 246 Clayton Rd Clayton Vic 3168

3 Medical Therapy Unit, L2 Monash Medical Centre 246 Clayton Rd Clayton Vic 3168

Thalassaemia and haemoglobinopathies are among the most common monogenic recessive disorders and are caused by mutations in both the alpha and beta globin gene complexes resulting in either decreased globin production or structural anomalies associated with distinct phenotypes. They are among only a few recessive disorders presenting with a mild phenotype in the carrier state that enable carriers to be detected during routine blood tests.

Recent advances in genetic testing for thalassemia have revealed increasing complexity with carriers described with mutations affecting more than one globin gene. Due to the increasing demand for thorough investigation of couples with mild phenotypic changes, many sequence variations in multiple genes are being discovered by our laboratory that are not reported in any of the databases or in scientific literature. The challenge is to evaluate the pathogenicity of these variations so that an accurate risk assessment for a couple can be reported.

We present a cohort of gene sequence variations and the difficulty in categorising them as pathogenic or benign using the current guidelines and standards.


Kerryn is the senior scientist in the Thalassaemia and Haemophilia Molecular Reference Laboratory. This laboratory is the Victorian reference laboratory and provides carrier, proband and prenatal testing for thalassaemia and haemophilia.  Kerryn has been senior scientist for nearly 10 years and during this time the laboratory has grown 10-fold.  She obtained her fellowship of the HGSA in 2016, one of the last candidates to receive a HGSA fellowship.

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