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What Do You Want To Know About Thalassaemia (Carrier) Thalassaemia is not uncommon in Malaysia 5 in every 100 people are thalassaemia carriers What is blood? Blood consist of a yellow fluid called plasma and different types of blood cells such a red blood cells and white blood cells Red blood cells contain haemoglobin; a substance that carry oxygen The body needs oxygen to function and haemoglobin carries the oxygen from the lungs and delivers it to different parts of the body Blood is red because of the iron content in the haemoglobin Thalassaemia is a disease of red blood cells Red blood cells There are millions of haemoglobin in each red blood cell. Each haemoglobin carries 4 molecules of oxygen (O2). Basic structure of haemoglobin protein Each haemoglobin is made up of iron and 4 protein chains The adult haemoglobin ( Hb A ) is made up of 2 alpha and 2 beta chain What are genes? Every human characteristic like eye colour, height, or type of haemoglobin is controlled by “genes” which is inherited from the parents. A child inherits two genes for every characteristic (one from each parent) You look like your parents because you have inherited half of your father’s and half of your mother’s genes What is a thalassaemia carrier? A carrier has inherited one normal gene and one thalassaemia gene .The thalassaemia gene cannot produce haemoglobin, or can only produce a small amount GENE CHROMOSOME PROTEIN Thalassaemia carriers have less haemoglobin in each red blood cell and their red blood cells are smaller than usual Thalassaemia carriers healthy and normal CELL DNA A carrier can only be detected through thalassaemia screening Why is it important to know that you are a carrier? It gives you an opportunity to choose a partner who is not a carrier When you are ready to get married it is very important that you and your part go for genetic counselling. Your partner will also be screened for thalassaemia If you and your partner are both carrier there is a 1in 4 chance that your child will have thalassaemia major If your partner is not a carrier then all your children will be healthy How can a child inherit the thalassaemia gene? A child inherit one gene for haemoglobin from each parent. This picture shows when one parents is a thalassaemia carrier. Father or mother is a thalassaemia carrier Carrier Normal (25%) Normal Carrier (25%) Normal (25%) Carrier (25%) How can a child get thalassaemia major? Both father and mother are thalassaemia carriers Carrier Thalassaemia Patient (25%) Carrier Carrier (25%) Carrier (25%) Normal (25%) How to know if you are carrier? Through blood test: A sample of blood is required The blood sample is sent to the laboratory for testing The blood results will then be informed Blood film examination Red blood cells of a normal person Red blood cells of a carrier Blood film examination Red blood cells of a normal person Red blood cells of thalassaemia patient Algorithm for screening of thalassaemia in Malaysia Laboratory instruments Haemotology Analyser Automated electrophoresis system HPLC system THALASSAEMIA IS AN INHERITED DISORDER Go for thalassaemia screening before starting a family THANK YOU