The thalassaemia carrier test: what Australian guidelines say for South Asian couples planning a pregnancy

People born in India became Australia’s largest overseas-born group for the first time on record at 30 June 2025, 971,020 of them by the Australian Bureau of Statistics count. India’s Ministry of Health and Family Welfare, in a 2016 National Health Mission guideline, puts the average carrier frequency for beta thalassaemia across India at 3 to 4 per cent, with almost 42 million carriers. Yet the Medicare-funded reproductive carrier screen introduced on 1 November 2023 looks for cystic fibrosis, spinal muscular atrophy and fragile X syndrome, and its item descriptor does not mention thalassaemia. The thalassaemia carrier test is a separate set of blood tests, and its main Medicare item has been on the schedule since 1998 at a much lower schedule fee.

What a carrier is, and why it matters in pairs

Thalassaemia is an inherited condition. People with it “do not produce enough healthy haemoglobin”, the protein in red blood cells that carries oxygen, according to healthdirect. The Royal Australian College of General Practitioners (RACGP) groups thalassaemia, sickle cell disease and haemoglobin E as haemoglobinopathies, “the most common single gene disorders in humans”, and says “around 7% of the world’s population are carriers”.

A carrier, in the RACGP’s words, “is an individual who only has one copy of the gene variant and generally does not have symptoms”. Thalassaemia and Sickle Cell Australia (TASCA) states in its family planning fact sheet: “A carrier is healthy.” Its brochure on beta thalassaemia minor, another name for the carrier state, says “no treatment is needed”.

Healthdirect states that “a child is only at risk of having thalassaemia if both parents carry a thalassaemia mutation”. The Victorian government’s Better Health Channel sets out the odds when two carriers of the same type of thalassaemia have children: a 25 per cent risk of thalassaemia major, a 50 per cent chance of a child who is a carrier and a 25 per cent chance of a child who does not inherit the gene at all. The RACGP puts the recurrence risk at “one in four for each pregnancy”.

TASCA’s beta thalassaemia fact sheet says the major form “results in severe anaemia requiring life long treatment”, with “regular blood transfusions every 3 to 4 weeks” and medication to manage the excess iron that builds up as a result of treatment. The Better Health Channel states: “There is no cure for thalassaemia major and treatment must continue for life.”

How common carrier status is where your family comes from

The RACGP lists the Indian subcontinent among the backgrounds with “increased carrier frequency”, while cautioning that its list of people at particular risk “should not be relied upon to identify carriers of a haemoglobinopathy”. TASCA’s family planning fact sheet says the genes for these blood disorders are common in people from Asian countries including “India, Pakistan, Sri Lanka, Bangladesh”.

The 2016 National Health Mission guideline, Prevention and Control of Hemoglobinopathies in India, states that beta thalassaemia “is prevalent across the country, with an average frequency of carriers being 3-4%” and that 10,000 to 15,000 babies with thalassaemia major are born every year. It names communities where “a higher frequency has been observed”: Sindhis, Punjabis, Gujaratis, Bengalis, Mahars, Kolis, Saraswats, Lohanas and Gaurs.

Two Melbourne thalassaemia specialists, F. Rex Betheras and D.K. Bowden, made a related point in a 2002 letter to Australian Prescriber: “Testing on the basis of name, place of birth or religion is unreliable for detecting carriers.”

What the thalassaemia carrier test involves

The RACGP’s guidance to GPs is to “order a haemoglobinopathy screen to include: full blood examination (FBE) for MCV and MCH, ferritin to exclude iron deficiency, haemoglobin electrophoresis, DNA testing if indicated”. MCV is the mean corpuscular volume and MCH the mean corpuscular haemoglobin. The RACGP lists people with an MCV below 80 fL or an MCH below 27 pg among those at particular risk.

The Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG), in its statement on routine antenatal assessment (C-Obs 3b, March 2022), says that “as a minimum, all women should be screened with mean corpuscular volume (MCV), provided in the full blood examination”, with haemoglobin electrophoresis or high-performance liquid chromatography (HPLC) and a ferritin level to follow “in the event of low MCV”.

RANZCOG’s genetic carrier screening statement (C-Obs 63, first endorsed March 2019, interim update July 2024) adds a step for high-prevalence groups: “All pregnant women should be offered basic screening for thalassaemia carrier status by a full blood examination at initial presentation. Screening with specific assays for haemoglobinopathies (such as HPLC or EPG and haemoglobinopathy DNA testing) should be considered in high probability ethnic or population groups.”

What it costs under Medicare

Item 65078 has been on the Medicare Benefits Schedule since 1 November 1998. It covers “tests for the diagnosis of thalassaemia consisting of haemoglobin electrophoresis or chromatography and at least 2 of: (a) examination for HbH; or (b) quantitation of HbA2; or (c) quantitation of HbF”, and includes a full blood examination (item 65070, schedule fee A$17.80) if one is performed. At the fee update of 1 July 2026 its schedule fee is A$94.75, with an 85 per cent benefit of A$80.55. Ferritin on its own (item 66593) has a schedule fee of A$18.00.

Since 1 July 2022 the schedule has also carried a DNA test for alpha thalassaemia, item 73410, with a schedule fee of A$100. It applies to a person of reproductive age whose red cell indices and thalassaemia screening point to the condition, subject to conditions on iron status, and to some reproductive partners of a person with alpha thalassaemia.

The three-gene reproductive carrier screen, item 73451, has a schedule fee of A$400, is limited to one test per lifetime and covers the CFTR, SMN1 and FMR1 genes only. RANZCOG’s July 2024 update says that for those who meet Medicare requirements there is “no direct cost to the patient for these tests if performed at a bulk-billing pathology provider”.

When to test, and who

The RACGP says carrier screening “should be offered to all couples who are planning pregnancy or in the first trimester of pregnancy”, and that “both partners should be tested as early as possible”. RANZCOG says screening “should ideally be prior to a pregnancy so reproductive options are available to the couple”, and that a woman or couple first presenting in early pregnancy should still be offered testing then.

RANZCOG’s antenatal statement says that “full assessment of fetal risk requires investigation of the partner (father of the baby)”. TASCA’s brochure on thalassaemia minor says the brothers and sisters of a carrier “should also be tested particularly if they are planning to have children”.

If both partners are carriers, RANZCOG’s Recommendation 7 applies: “All couples found to have a high probability of having a child with one of the conditions screened for should be referred for genetic counselling to be informed of available reproductive options”. The RACGP says “urgent referral should be made to genetics and/or haematology services when carrier couples are identified during pregnancy”. TASCA’s fact sheet notes that these conditions “can be diagnosed as early as the 12th week of pregnancy” and names termination of pregnancy, adoption and assisted reproduction using donor eggs or donor sperm among the options, adding that all of them “can be discussed with a Genetic Counsellor”.

Where to find support

Thalassaemia and Sickle Cell Australia (TASCA) describes itself as “a support and advocacy organisation for Australians living with genetic haemoglobin conditions”. It was founded in 1976 as the Thalassaemia Society of Victoria and its website lists blood transfusion centres in every state and territory. Its family planning fact sheet is published in 14 languages, including Tamil and Sinhalese. It raises donations to buy infusion pumps for treating centres and offers eligible members and patients a free three-month pump loan, subject to availability. Its phone number is (03) 7015 5637.

The guidance in brief

The main thalassaemia item has been on the Medicare schedule since 1998, at a schedule fee less than a quarter of the three-gene panel’s. Both colleges place carrier screening before a pregnancy or early in one, with both partners tested, and RANZCOG says specific haemoglobin assays should be considered in high probability groups. Its stated reason for testing before a pregnancy is that reproductive options are then still available to the couple.