Close this search box.

Latest News

Everything You Need to Know About Thalassemia: Types, Symptoms, and More

World Thalassemia Day is celebrated yearly on May 8th and it is dedicated to raising awareness about thalassemia. The day also provides an opportunity to highlight the lifelong and difficult struggle that patients with thalassemia may experience, as well as to commemorate those who have passed away due to the disease. The objective of World Thalassemia Day is to promote and draw attention to the public and decision makers to encourage discussions on prevention, management and treatment of this disease that is patient centred. In today’s post, we are going to learn more about thalassemia and hear from two patients at Prince of Wales Hospital about their experiences living with the condition.

What is Thalassemia?

Thalassemia is a genetic blood disorder which is caused when the body is unable to make enough protein called haemoglobin. Haemoglobin is an important part of red blood cells and when there isn’t enough, the body’s red blood cells don’t function properly and only last a shorter period which means there are very few healthy red blood cells that travel through the bloodstream. Doctors usually diagnose this condition within the first six months of a person’s life.

Thalassemia is not very common in Australia, but it is still a significant health concern. According to the Thalassaemia and Sickle Cell Society of Australia, it is estimated that there are around 2,000 people in Australia living with thalassemia. However, because the disease is more common in certain ethnic groups, such as people of Mediterranean, South Asian, and Middle Eastern descent, these communities may have a higher prevalence of thalassemia.

Patients with thalassemia may receive regular blood transfusions because their body is unable to produce sufficient amounts of haemoglobin. While blood transfusions are an important treatment for thalassemia, there are other options that may be available as well. For example, bone marrow transplants can be a curative treatment for some patients with thalassemia. In a bone marrow transplant, a patient receives healthy stem cells from a donor, which can help their body produce healthy red blood cells. Gene therapy is another emerging treatment for thalassemia, which involves modifying a patient’s own cells to produce more haemoglobin.

Types of Thalassemia

There are two types of thalassemia: alpha (a) and beta (b). Alpha thalassemia involves genetic changes in two genes (HBA1 and HBA2). Beta thalassemia involves changes in one gene (HBB).

Their subtypes are called thalassemia major and thalassaemia minor.

Thalassemia major refers to a person who has changes in both copies of their affected gene or genes. This means they have no fully functioning copies of the gene Thalassemia minor refers to people who have genetic changes in only one copy of the HBB gene or in one copy of each of the HBA1 and HBA2 genes but will still have second copies of these genes that don’t have the genetic changes. They are more known as “carriers” of the condition.

What are the thalassemia symptoms?

The common symptoms of thalassemia include fatigue, weakness, pale or yellowish skin, facial bone deformities, slow growth, abdominal swelling, and dark urine. Some babes show signs and symptoms at birth and others may develop them during the first two year of their life.

Since your body has fewer red blood cells, its more likely that you have low blood count, or anaemia. Your body will try very hard to make more red blood cells. Red blood cells are made in the bone marrow which is the dark spongy part in the middle of your bones. Because your bone marrow is working extra hard than normal, this will cause your bones to expand and stretch your bones. This leads to your bones becoming thinner and more prone to breakage.

Thalassemia also affects your spleen. Your spleens main jobs are to filter blood and monitor the blood for certain infections. When your spleen finds an infection, it can start the process of trying to fight them. When you have thalassemia, the spleen can enlarge to try and make more red blood cells. As the spleen gets bigger, it has difficulty trying to filter your blood and monitor for any possible infections. This usually means patients with thalassemia often have compromised immune systems.

Thalassemia treatment at the Prince of Wales Hospital

The Prince of Wales Hospital has been treating many thalassemia patients in our cancer and haematology wards for many decades. Patients come from all over New South Wales and are looked after by the Senior Nursing Staff who liaise with specialist Haematologist Doctors. Together they provide patients with day chemotherapy treatments, infusions, patient education, and blood product support. For patients who need to stay in hospital, the hospital has a Haematology and Oncology ward that is in the Acute Services Building. For patients who receive day treatments will usually visit the Haematology Oncology Day Centre in the Nelune Comprehensive Cancer Centre on campus.

Please support our local hospital to continue their breakthrough research for better care and treatment for patients.