THALASSAEMIA/ HAEMOGLOBINOPATHY ANTENATAL SCREENING
Host: Dr Russell Shute – GP Advisor to the SA Palliative Shared Care Program
Guest Speaker: Dr David Ross
DR DAVID ROSS – MBBS, PhD, FRACP, FRCPA – Consultant Haematologist
Dr David Ross trained in clinical and laboratory haematology at the Royal Adelaide Hospital and the IMVS, spending one year at Addenbrooke’s Hospital in Cambridge.
In 2009, he was awarded a PhD for his thesis on the subject of minimal residual disease in chronic myeloid leukaemia.
In 2009, he joined the Haematology Department at Flinders Medical Centre, where he is responsible for diagnostic haematology services.
He is also an investigator in several clinical trials, and an active member of the Australasian Leukaemia and Lymphoma Group.
His involvement in thalassaemia stems from his interest in molecular diagnostics in haematology.
Thalassaemia is an inherited disorder associated with impaired synthesis of one or more globin chains with alpha thalassaemia and beta thalassaemia being the most common forms.
Haemoglobinopathies are a group of inherited disorders characterised by structural variations of the haemoglobin molecule, such as HbS (sickle), HbE etc
All women at their first antenatal visit are encouraged to complete the ‘Family of Origin Questionnaire’ – Thalassaemia / Haemoglobinopathy (Ref. Statewide Anaemia Guideline).
If the woman has not had a recent CBE and iron studies performed at SA PATHOLOGY samples to perform these tests should be collected and forwarded with the questionnaire and a copy of any available pathology results.
It is important to link information with both partners being tested and to identify at risk couples.
PRE-CONCEPTION GENETIC SCREENING
Host: Dr Annie Lin
Guest Speaker: Associate Professor Christopher Barnett
ASSOCIATE PROFESSOR CHRISTOPHER BARNETT – MBBS, FRACP, FCCMG – Clinical Geneticist, (HGSA)
A/Prof Chris Barnett has dual fellowships in neonatal/perinatal medicine and clinical genetics and is the head of the Paediatric and Reproductive Genetics Unit at the Women’s and Children’s Hospital in Adelaide.
He is the clinical lead of the NHMRC funded Genomic Autopsy Project and on the expert advisory committee of the Genomics Health Futures Mission, the Australian government’s $500 million research investment in the future of genomic medicine in Australia.
A/Prof Barnett’s neonatal training was done in Adelaide at the University of Adelaide and Women’s and Children’s Hospital and in Toronto, Canada at the University of Toronto and The Hospital for Sick Children. He was a consultant neonatologist at the Women’s and Children’s Hospital from 1997-2002 and then in private neonatal/paediatric practice from 2002-2007. A/Prof Barnett is a past president of the SA branch of the Perinatal Society of Australia and New Zealand (PSANZ). A/Prof Barnett’s clinical genetics training was undertaken at University of Toronto and The Hospital for Sick Children, Toronto and at the Women’s and Children’s Hospital in Adelaide.
He has research interests in prenatal genetics, fetal pathology and rare childhood diseases and has over 80 publications in peer-reviewed journals and has written multiple book chapters.
- RANZCOG Statement on Prenatal Screening and Diagnostic Testing for Fetal Chromosomal and Genetic Conditions
- Mackenzie’s Mission