Thalassaemia in Australia by Dr Sant‐Rayn Pasricha, Victorian Thalassaemia Service, Southern Health

1. Thalassaemia in Australia
Dr Sant Rayn
Dr Sant‐Rayn Pasricha
Victorian Thalassaemia Service,
Southern Health
S h H lh

2. Australia
• Population: 22.7 million
– Predominantly urban:
• About 15 million
– Sydney: 4.6 million
– Melbourne: 4.1 million
– Brisbane: 3 million
– Perth: 1.7 million
– Adelaide: 1.2 million
– Hobart: 0.2 million
• Growth about 1.2% pa Average income: AUD $1,020.10/week
Australian Bureau of Statistics 2011

3. Australia
• A migrant country.
– As of 30 June 2010, 27% of the
Australian population was born
Australian population was born
overseas (6 million people).
– Third highest after Singapore and
Hong Kong.
• Birth rate:
12.3 births per 1000 population (2009 crude birth rate)
158th in the world
• Fertility rate (2009): 1.9 babies/ woman.
295,700 births in Australia in 2009
Since 1976, births have been below replacement.
Si 1976 bi th h b b l l t
(Australian Bureau of Statistics 2011)

4. Region of birth
Region of birth
• Australia: 73.2%
• Oceania and Antarctica (excl. Aust.): 3.1%
• North‐West Europe: 7.1%
• Southern and Eastern Europe: 3.7%
• North Africa and the Middle East: 1.5%
• South‐East Asia: 3.5%
• North‐East Asia: 3.0%
• Southern and Central Asia: 2.5%
• Americas: 1.1%
• Sub‐Saharan Africa: 1.3%
Australian Bureau of Statistics 2010

5. Australia: Country of birth of parents
Australia: Country of birth of parents
One or both parents from:
Italy 852,418
Greece 365,147
China 669,890
Vietnam 173,658
India 234,722
234 722
Australian Bureau of Statistics 2010

6. Proportion of Australians
born overseas
Australian Bureau of Statistics 2011

7. Proportion of Australians born in
SE Asia
Australian Bureau of Statistics 2011

8. Proportion of Australians born in
Southern and Eastern Europe
Australian Bureau of Statistics 2011

9. Australian Health System
Australian Health System
• Parallel government (public) and private system.
Parallel government (public) and private system
• Public system:
– Universal health insurance.
– Combined funding from state and federal governments
Combined funding from state and federal governments.
• Federal government:
– Primary health care
» May be free or copayment
– Medications (Pharmaceutical Benefits Scheme)
• State government:
– Public hospitals
» Inpatient and outpatient hospital care
Inpatient and outpatient hospital care
» Free of cost, generally no out of pocket expense.
– Doesn’t include dental, ambulance
• Private system:
y
– Private health insurance
• High income earners encouraged to purchase insurance through a system of tax rebates and penalties.
– Private hospitals (in and outpatient procedures)
– May be considerable out of pocket gap between funded expenses and actual cost.

10. Australian Health System
Australian Health System
• Expenditure
– 2008‐9: $112.8 billion (9.0% GDP).
– Hospitals $41,775 million (39.0% of total)
• Public hospitals $32,421 million
• Private hospitals $8,354 million
$
– Medical services $19,820 million (18.5%)
– Medications $15,206 million (14.2%)
di i $1 206 illi (14 2%)
(Australian Institute of Health and Welfare)

11. Australian Health System
Australian Health System
• Medications:
– Approval: Therapeutic Good Administration
– Funding: Pharmaceutical Benefits Scheme (list based on recommendations of
Funding: Pharmaceutical Benefits Scheme (list based on recommendations of
Pharmaceutical Benefits Advisory Committee – Minister/ Cabinet)
• Subsidisation of medications.
• Typical out of pocket cost is $34 20 on outpatient medications $5 60 if subsidised
Typical out of pocket cost is $34.20 on outpatient medications, $5.60 if subsidised
• Safety net limits maximum per annum spend: $1317.20 or $336.00 (concession).

12. Australian Government National Chronic
Diseases Policy 2005
• Overarching framework of national direction for improving chronic disease prevention and
O hi f k f i l di i f i i h i di i d
care across Australia.
• Focusing on cancer, diabetes, asthma, cardiovascular disease, stroke, osteoporosis, osteo‐
and rheumatoid arthritis.
and rheumatoid arthritis
• Principles:
– Adopt a population health approach and reduce health inequalities
– Prioritise health promotion and disease prevention
o se ea p o o o a d d sease p e e o
– Achieve person centred care and patient self management
– Provide the most effective care
– Facilitate coordinated and integrated multi‐disciplinary care across services, settings and sectors
– Achieve significant and sustainable change
– Monitor progress
• Action areas:
– Prevention
i
– Early detection and treatment
– Integration and continuation of prevention and care
– Self management
Self management

13. Thalassaemia in Australia
Thalassaemia in Australia
• Epidemiology unclear:
• No study has prospectively documented the prevalence of
haemoglobinopathies in the general Australian population.
• Carrier rate is likely to reflect the background of the
countries from which the Australian population is derived.
ti f hi h th A t li l ti i d i d
• No national government policy on:
– Premarital screening
– Antenatal screening
– Newborn screening

14. Antenatal Screening: guidelines
Antenatal Screening: guidelines
• Royal Australasian College of Obstetricians and
Gyanaecologists (November 2009):
• Screening for Haemoglobinopathies:
– Each unit should have a defined policy for screening for haemoglobinopathies,
taking into account the ethnic mix of patients screened.
taking into account the ethnic mix of patients screened
– As a minimum, all women should be screened with (Hb), MCV and MCHC.
– Haemoglobin electrophoresis and iron studies should be performed in the
event of thresholds not being reached.
t f th h ld tb i h d
– Consideration should also be given to the further screening of patients with
DNA analysis for alpha‐thalassaemia.
– Testing of normal‐MCV women for haemoglobinopathies may be considered if
they are members of high‐risk groups.

15. Antenatal screening: our recommendations
Antenatal screening: our recommendations
Recommended approach: available on Thalassaemia Australia website and local literature

16. Abortion laws in Australia
Abortion laws in Australia
• Legal for ‘severe foetal abnormality’ in all states by
QLD (where legal if continuation of pregnancy poses
a threat to the mother).
• Victoria: any woman can access abortion 24 weeks;
after 24 weeks still legal but 2 doctors must agree
the termination is appropriate.
• Couples at risk may opt for IVF with pre‐implantation
g
genetic diagnosis (associated with considerable out‐
g (
of‐pocket costs).

17. Thalassaemia in Australia
Thalassaemia in Australia
• No national patient registry
l • Victoria:
– Beta thal major: 136 (adults); 18 (children)
• Estimated total: – E/Beta thal: 4
– Beta thalassaemia major: 326
j – HbH (transfused): 14
– Sickle cell disease: 81 – Sickle (transfused): 29 (adults); 3 (children)
• NSW
– Beta thalassaemia major: 105 (27 children)
– Sickle (transfused): 18
Sickle (transfused): 18
• WA:
– Beta thalassaemia major: 10 patients
– Other thalassaemia: 15
– Sickle cell disease: 30
• QLD:
– Approx 30 patients.
• SA:
– Beta thalassaemia major: 27 patients
– E/ Beta thalassaemia: 2 patients
– HbH (transfused) 2 patients
– Sickle (transfused): 1

18. Thalassaemia in Australia
Thalassaemia in Australia
• Diagnostic services:
– Haematology automated analysers widespread.
– Hb electrophoresis, HPLC and special stains available in
most major hospital and commercial laboratories.
– Genetic testing available at:
• Victorian Clinical Genetics Laboratory, Southern Health
• IMVS S th A t li
IMVS, South Australia
• Some private laboratories.
– Antenatal/ genetic counselling
Antenatal/ genetic counselling
• Specialist centres
– CVS/ amniocentesis and prenatal testing
CVS/ amniocentesis and prenatal testing
• Specialist centres

19. Thalassaemia in Australia
Thalassaemia in Australia
• Clinical services available to all patients with
thalassaemia:
– Clinical assessment and testing
– Transfusion therapy
Transfusion therapy
– Chelation therapy
– Bone marrow transplantation

20. Thalassaemia in Australia
Thalassaemia in Australia
• Thalassaemia Australia:
Mission and objectives:
j
– To provide consultation and communication to the community for:
• Care and Treatment
• Best Transfusion Practice
B tT f i P ti
• Member Education
• Support to members of the public and individuals with Haemoglobinopathies
• Advocacy
d
• Research
• Consumer Health Groups
• Conference and Seminar attendance

21. Blood Policy in Australia
Blood Policy in Australia
• Single blood manufacturer (Australian Red Cross Blood
Service).
• C t t d i th
Contracted via the
– National Blood Authority, from the
– Federal Department of Health
Federal Department of Health.
• All non‐remunerated voluntary blood donations.
• All blood provided free of charge
All blood provided free of charge.
• Southern Health Clayton is the biggest user of blood in
Victoria, the Thalassaemia treatment centre is the largest user
Victoria, the Thalassaemia treatment centre is the largest user
of blood at Southern Health.
y
• Thalassaemia Australia society are involved in blood donation
marketing efforts.

22. Prevention of transfusion
transmitted infections
• HIV (serology, NAT)
HIV ( l NAT)
• Hep C (serology, NAT)
• Hep B (serology, NAT (new!))
Hep B (serology NAT (new!))
• Syphillis (serology)
• Malaria (serology)
( gy)
• HTLV (serology)
• Bacteria (bacterial contamination screening)
• VCJD:
– people who have spent a cumulative period of 6 months in the
UK between 1 January 1980 and 31 December 1996 and/or had
UK between 1 January 1980 and 31 December 1996 and/or had
a transfusion in the UK between 1 January 1980 and the present
time are not accepted as donors.

23. Transfusion practice at our centre
Transfusion practice at our centre
• No specific guideline
• Pre‐transfusion haemoglobin 90‐110g/L.
• Transfusion intervals 1‐4 weekly.
• Titrated to patient symptoms and tolerance.
Titrated to patient symptoms and tolerance
– Fatigue
– Iron loading
Iron loading
– Pain
• M
More frequent transfusions during pregnancy, while
f tt f i d i hil
on combination HCV therapy.

24. Iron Chelation in Australia
Iron Chelation in Australia
• Pharmaceutical Benefits Scheme covers:
– Desferrioxamine:
• Restriction: “Disorders of erythropoiesis associated with treatment
Restriction: Disorders of erythropoiesis associated with treatment‐
related chronic iron overload.”
• Cost to patient: up to $34.20
– Deferiprone:
• Restriction: Iron overload in patients with thalassaemia major who are
unable to take desferrioxamine therapy; or in whom desferrioxamine has
been ineffective
• Cost to patient: up to $34.20
– Desferasirox:
• Restriction: “chronic iron overload in patients with disorders of
erythropoiesis”
• C tt
Cost to patient: up to $34.20
ti t t $34 20

25. Iron chelation in Australia
Iron chelation in Australia
• In our centre:
– Approximately 4:1 Deferasirox to desferioxamine.
pp y
• Desferrioxamine only if:
– Patient unwilling to switch to deferasirox
– Deferasirox failure
– Deferasirox poorly tolerated (GI/ renal/ hepatic)
– Underlying renal/ hepatic impairment
– Pregnancy

26. Iron monitoring
Iron monitoring
• Ferritin
– 1‐3 monthly
y
• MRI T2* liver and cardiac now available (about
2‐3 years as a research tool, 1 year as a
2 3 years as a research tool 1 year as a
routine).
– Annually (6 monthly in severe iron overload)
• (CT ‐ historically)
(CT

28. Multidisciplinary services
Multidisciplinary services
• Our centre works in close collaboration with
p
specialist services with an interest in
thalassaemia:
– Social work
Social work
– Hepatology (Hepatitis C Treatment)
– Metabolic bone
– General endocrinology
– Cardiology
– Others eg plastic surgery
Others, eg plastic surgery

29. The Future
The Future
• Changing demographics
– Further migration and intermarriage.
g g
– Increase in sickle cell gene prevalence.
• ?Routine neonatal screening
?Routine neonatal screening
• ?National policies for antenatal screening
• A i
Ageing population of patients with
l ti f ti t ith
thalassaemia:
– Patients >60 years.

30. Acknowledgements
• Professor Don Bowden
• Ms Joanne Shaw and staff at the Medical Therapy Unit,
Southern Health, Victoria
S th H lth Vi t i
• A/Prof Joy Ho, A/Prof Robert Lindeman (NSW)
• D D id J k (WA)
Dr David Joske (WA)

31. Proportion of Australians born in
North Africa and the Middle East

32. Proportion of Australians born
in sub‐Saharan Africa

33. Proportion of Australians born in
North East Asia