Beta (β) Thalassaemia
Thalassaemia is a group of blood disorders affecting haemoglobin production. Haemoglobin is a protein in the blood that carries oxygen around our bodies. Thalassaemia is passed from parent to child in genes. Genes carry information about human characteristics such as eye colour, hair colour and haemoglobin.
Thalassaemia is inherited.
Thalassaemia is not contagious.
Germs do not transmit Thalassaemia.
Sometimes changes occur to genes, resulting in medical conditions. Such changes occur to beta globin genes in beta (β) thalassaemia:
– A person normally inherits two β globin genes for the production of the beta globin protein in Haemoglobin.
– A person may have an alteration (mutation) in one of their two β globin genes. This person is called a carrier of β thalassaemia and is healthy. Doctors may use the term β thalassaemia minor instead but it means the same thing.
– Carriers may be at risk of having a child affected
with beta thalassaemia major if their partner is also a carrier of β thalassaemia.
– When a person has alterations (mutations) in both of their β globin genes, they have a severe condition called β thalassaemia major. β thalassaemia major results in severe anaemia requiring life long treatment.
People with β thalassaemia major require regular blood transfusions every 3 to 4 weeks to correct anaemia. Complications of their treatment include accumulation of excess iron, which can be effectively prevented and managed with medication.
A carrier can expect to be healthy. It is important that their doctor knows they are a carrier to distinguish any anaemia from anaemia caused by low iron levels.
The genes for β thalassaemia are common in people of Middle Eastern, Mediterranean, Indian sub-continent and South-East Asian backgrounds. Couples planning a family, or early in pregnancy, should have a blood test to determine whether or not they are carriers, if the origin of either of their families is one of the areas listed above; or if they have a family history of any blood disorder or anaemia. This test is needed to determine if there is any risk of having a child affected by a genetic blood disorder.
Those at risk of having an affected child have options. This condition can be diagnosed as early as the 12th week of pregnancy. Termination of pregnancy can then be considered, if appropriate. People can adopt or can consider assisted reproductive techniques (such as preimplantation genetic diagnosis, the use of donor eggs or donor sperm). Others may choose to take the chance of having an affected child. All of these options can be discussed with a Genetic Counsellor. Testing can be arranged by your local doctor or by contacting the hospitals listed at the end of this pamphlet.
If you are a carrier of beta thalassaemia, other members of your family may also be carriers and at risk of having children with a severe blood condition. It is recommended that other family members and their partners be tested for their carrier status prior to having children of their own.
Midwife Cath® has taken time to ensure to provide accurate information to you and as the mother baby relationship is unique to each and everyone it is impossible to cover every situation. If you have at any time concerns about the health and welfare of you or your baby you must consult personally with a health professional whenever you are in doubt about you or your baby’s health.