Getting a Test: What you need to know

Testing - Thalassaemia minor or Sickle-cell trait

Who should get a test?

Due to migration and inter marriage, everyone should become knowledgeable and aware and consider testing. However, individuals and couples from communities with a higher than average risk of being carriers should be tested, and especially before starting a family.

Higher risk communities include people with ancestral or ethnic origins** from the regions below.  

  • Mediterranean countries: including Greece, Cyprus, Turkey, Malta, Italy, Portugal, Spain, France.
  • Middle-Eastern Region: Palestine, Lebanon, Iraq, Syria, the Gulf States, Iran.
  • South Asian Region: India, Pakistan, Nepal, Bangladesh, Sri Lanka, Maldives.
  • South-East Asia Region:  South China, Hong Kong, Taiwan, Vietnam, Korea, Burma/Myanmar, Thailand, Singapore, Malaysia, Philippines, Indonesia.
  • Africa: North and Sub-Saharan African countries
  • South America

Note: This list provides an indication only. There are other countries within each of these regions. Fore more info see  FAQs page.

**Even if you and your parents were born in Australia, if your origins are from these regions, then you should talk to your G.P. - it is best to check!

Why should I get a test?

If you are a genetic carrier - thalassaemia minor or sickle-cell trait – you may have no symptoms and you may be unaware. Thalassaemia and sickle-cell are genetic blood disorders  - that means they are inherited within your family.

If only one partner has the thalassaemia or sickle-cell trait, then there is no risk of children inheriting the severe (major) condition. But there is a 50% chance that each child may inherit thalassaemia minor or sickle-cell trait.

The more important risk is if you and your partner (or your child and their future partner) both have thalassaemia minor or sickle-cell traitThen there is a risk of children having the severe conditions -  thalassaemia major or sickle-cell anaemia. In each pregnancy there is a 25% chance that a child will have normal blood; a 50% chance that the child will have thalassaemia minor or sickle-cell trait; and a 25% chance that the child will have thalassaemia major or sickle-cell anaemia.

A test will mean you are informed. Once you know then you can then get proper advice and talk to your partner, children and family members. Keep in mind, your future partner or your child’s future partner or your own family may be unaware that they have the trait

How can I find out if I am a carrier?

Testing can be arranged by your family doctor, and the test is a blood test and is covered by Medicare.

What should I ask my GP?

Ensure you ask your GP for a blood test “for haemoglobin disorders”.

Your GP should request a test for (Hbe) hemoglobin electrophoresis; and also request a complete blood count and ferritin/iron studies.

Family history is also very important so keep in mind if thalassaemia or sickle-cell is known in your family history. Also ancestral origin of your family, especially if it comes from the following regions - Mediterranean, Middle -East, South Asia, South-East Asia or Africa is important. So tell your doctor.

When is the best time to have a test if I am a carrier?

You can have it at any time, but the best time is before you start a family. Ask the doctor to give you a test if you are planning a family, or are at the start of pregnancy.

What should I or my child do before having children?

When a person is identified as a genetic carrier for thalassaemia or sickle-cell trait, their first degree relatives (parents, children, brothers and sisters) all have a 1 chance in 2 (50%) of also being a genetic carrier.

Screening may be performed through specialised blood tests through your family doctor, or genetic testing may be offered if the gene mutations have been identified in your family.

You should discuss this with current or future partners. The partner should have a blood test to look for the thalassaemia minor or sickle-cell trait.

This is particularly important if the partner is a descendant of someone from the countries listed above. If both partners carry the trait, then they should talk to a genetic counsellor, or haemotologist (doctor) specialising in haemoglobin disorders before starting a pregnancy. With proper advice and monitoring, it is possible for them to have a healthy normal family.

I am confused, what is a carrier and what is a trait?

This a complex area and we strongly encourage people to speak with their doctor if they have concerns. A carrier refers to someone who carries the genetic trait.

For thalassaemia, the 'carrier state' may be called thalassaemia minor, thalassemia trait or thalassaemia carrier. The severe form of the condition or illness is referred to as thalassaemia major or transfusion dependent thalassaemia.

A sickle-cell carrier may be refered to as having sickle-cell trait or a sickle-cell carrier. You may hear the severe form of the condition or illness referred to as sickle-cell disease; sickle-cell anaemia or sickle-cell disorder.

You might also hear sickle-cell crisis. A sickle-cell crisis is a very painful attack experienced by those with the disorder.

A carrier's health is not seriously affected and they do not have the disorder. However, a carrier should always tell any doctor that they are a carrier.  

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Information adapted from the Royal Children's Hopsital Melbourne website and Thalassaemia and Sickle-Cell Society Australia website. 

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