What is Thalassaemia? Thalassaemia (pronounced thal-er see-meeya) is an inherited blood disorder in which there is a defect in the structure of haemoglobin. Haemoglobin is a protein which is contained in the red cells of the blood. It picks up oxygen from the air in the lungs and carries it to the tissues of the body where it is needed. A person who does not have enough haemoglobin is anaemic (pronounced er-nee-mick). There are different types of Thalassaemia. How is Thalassaemia passed on? The pattern of inheritance for Thalassaemia is autosomal recessive. A person who inherits one faulty gene for Thalassaemia will be a carrier. Carriers are unaffected but can pass the faulty gene onto any children they may have. If one or both parents is a carrier, there is a 50% (1 in 2) chance that each child of theirs will also be a carrier. Carriers of Thalassaemia are sometimes said to have Beta-Thalassaemia trait (formerly referred to as thalassaemia minor. A child who inherits two copies of the faulty gene (one from each parent) will have Thalassaemia. If both parents are carriers, there is a 25% (1 in 4) chance of this happening.
Posted on: Sun, 14 Dec 2014 15:55:55 +0000
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