17 Jul Why Having a Thalassemia Test Before Pregnancy is a Must
Both alpha and beta thalassemia need frequent monitoring and treatment to avoid severe organ havoc and prevent a condition that threatens the affected individual’s life. Even those who only have beta thalassemia trait should be conscious of their carrier status to avoid passing to their children a more severe type of the condition.
Knowing your status for thalassemia, especially if you belong to the ethnicities that are more likely to carry this condition or if you are planning to have children, is very important so that you can maintain your health and wellbeing with the correct medical care.
Alpha and beta thalassaemias are more commonly found in people of Mediterranean background, as well as those from South Asian, South-East Asian, and Middle Eastern origin.
Red blood cells are made up of a protein called haemoglobin, that transports oxygen from the lungs to all the tissues of the body. Structurally haemoglobin is a complex protein consisting of two alpha globins and two beta globins. Defects in the amount of the two types of globins produced lead to a type of blood disease called thalassaemia. This means that since there is a reduced production of haemoglobin, the body’s ability to transport oxygen (and remove carbon dioxide) is reduced.
Those with thalassaemia are at risk of developing abnormal red blood cells. According to the severity of the symptoms, beta thalassaemias are categorised into two types: thalassemia major (often called Cooley anaemia) and thalassemia intermedia.
Thalassaemia major is the most severe type of disorder and means that all beta-globin proteins have faulty genes. People with thalassaemia major show signs and symptoms within the first two years of life.
Thalassaemias intermedia is relatively mild than thalassemia major. In early adolescence or later in life, signs and symptoms of thalassaemia intermedia are seen. People suffering from mild to moderate anaemia may have slow growth and bone abnormalities.
Inheritance pattern and how it affects the children
Both thalassemia intermedia and thalassemia major inherited follow an autosomal recessive pattern, which implies that both copies of the HBB gene have mutations in each cell. Each parent with an autosomal recessionary condition has a copy of the mutated gene but typically show no signs and symptoms.
Alpha thalassemia major causes hydrops fetalis, a dangerous condition that causes the body of a fetus to swell up with the accumulation of fluid and is fatal for the fetus. A baby’s haemoglobin is different to an adult, but as the baby will not be able to make normal haemoglobin because of having four defective alpha-globin genes, the baby will not survive and dies whilst in the womb.
Those born with only one or two functioning alpha globins may suffer severe anaemia and require regular blood transfusions throughout their life and fail to thrive like normal children.
How can I find out if I or my partner are a thalassemia carrier before pregnancy?
It is quite common not to realise that individuals with alpha or beta thalassemia minor are generally carriers and have no symptoms.
If you and your partner are thalassemia carriers, your children have a;
- one in two possibilities to be a symptom-free carrier
- one out of four possibilities to have severe thalassemia
- probability that will be either a carrier or have the disease
A diagnostic test will inform you whether your child has inherited thalassemia trait if you and your partner diagnosed with thalassemia.
Getting tested to understand if you have thalassemia trait is simple using our groundbreaking Home Blood Spot Sampling Kit. These tests do not exist elsewhere, and we offer an inexpensive and easy solution compared to complicated and costly diagnostic tests that are accessible only in clinics and hospitals.
Contact us for more information or visit our shop to order your home blood spot sampling test for alpha thalassemia, beta thalassemia and other hemoglobinopathies.