Genetic Blood Disease More Common than You Think

Crystal Vu

 

Thalassaemia is one of the most common human genetic disorders found worldwide.

It can be found in people from the Mediterranean region: Greece, Italy and Cyprus; the Middle East: Iran and Saudi Arabia; Asia: India, Pakistan, Sri Lanka, Bangladesh, Thailand, Vietnam and China and other countries such as Pacific islands and New Zealand. Over the years, substantial migrations from the above affected areas have seen the rise in the occurrence of Thalassaemia in Australia.

Yet, little is known about the disorder amongst the general public.

Ignorance is NOT bliss.
In the case of most genetic diseases such as Thalassaemia, knowledge is power. Would you not want to know the potential risks? Early detection gives you and your family knowledge and options, where the disease has no guaranteed cure. Worldwide, it contributes up to four percent of the number of deaths in children aged less than five years old.

In Western Australia, Professor Jeffery Prior conducted a study in 2002 with the Migrant Health Service, declared that "more than 1/3 of newly arrived migrants carry one type of the Thalassaemia gene".

Thalassaemia Australia Corporation, states that "Over 100,000 people living in Victoria carry the Thalassaemia gene", that is equivalent to the number of people to fill the entire MCG.

Thalassaemia is a blood condition.  It is associated with the absence or malfunction in the building blocks of haemoglobin, the molecule in your blood that carries oxygen around your body. This disease is passed from parent to child through genes. It is not contagious. If you have one copy of the Thalassaemia gene, you are called a Carrier. You are normal in appearance and have no health issues relating to being a carrier. Problems may occur when you and your partner are both carriers.

According to the World Health Organization, "Australia and New Zealand together have almost 5,000 pregnant Carriers annually".
 
NSW Health explains that "there is a one-in-four risk for each pregnancy for carrier parents to have an affected child. The child will have two sets of the affected genes, the condition known as Thalassaemia Major or Disease. A carrier will not later develop into a Major or Disease."

The affected children who survive birth can suffer from severely low blood levels and other complications leading to damaged organs and heart dysfunction. They can also develop growth, skeletal and mental retardation. Most Thalassaemia Major or Disease children need blood transfusions and therapeutic drugs for the rest of their lives in order to continue to survive. 
 Although in NSW, we offer tests to diagnose Thalassaemia in couples planning to have a family and for pregnant women; older children through to adults at any stage of life can be tested. The test requires only a routine blood sample, which can be arranged by from your local GP. Knowing your Thalassaemia status early ensures that you know of any potential risk. Early detection will give you and your family broader options to have a healthy and happy family.