FQAs ON THALASSAEMIA
FAQs On Thalassaemia
Q: WHAT IS THALASSAEMIA?
A: Thalassaemia is a hereditary disorder. It can be inherited from both the parents. It can affects males and female alike.
Q: WHAT ARE THE PERCENTAGE OF RISK FOR EVERY PREGNANCY?
A: When both father and mother are thalassaemia carriers, the following can occur:\n 25% chance the child will be thalassaemia patient\n 50% chance the child will be thalassaemia carrier\n 25% chance the child will be normal
Q: WHAT ARE THE SIGNS AND SYMPTOMS OF THALASSAEMIA PATIENT?
A: At birth the baby will appears as normal but after 3 to 18 months, the child will slowly show signs of anaemia which become severe.\nAs the child grows older, he/she appears very pale and sickly. The child is often weak and restless. Severe anaemia can cause breathing difficulties.\nWithout adequate treatment the child will develop:\n Distended abdomen due to enlargement of liver and spleen\n Stunted growth\n Changes in facial bone structures\n Jaundice
Q: WHAT ARE THE TREATMENT FOR THALASSAEMIA PATIENT?
A: 1. Blood Transfusion:\nThalassaemia patients require blood transfusion on a monthly basis. Continuous blood transfusion without chelation therapy will cause iron overload. Complications from iron overload may result in heart failure, multiple organ malfunction and endocrine disorders.\n2. Chelation Therapy:\nExcessive iron can be removed by chelation therapy. \n3. Bone Marrow Transplant:\nBone marrow transplant can only be carried out if there is a suitable donor.
Q: WHAT IS BLOOD?
A: 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.
Q: WHAT IS THE BASIC STRUCTURE OF HAEMOGLOBIN PROTEIN?
A: Each haemoglobin is made up of iron and 4 protein chains. The adult haemoglobin (HbA) is made up of 2 alpha and 2 beta chain.
Q: WHAT ARE GENES?
A: 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.
Q: WHAT IS A THALASSAEMIA CARRIER?
A: A carrier has inherited one normal gene and one thalassaemia gene . The thalassaemia gene cannot produce haemoglobin, or can only produce a small amount. Thalassaemia carriers have less haemoglobin in each red blood cell and their red blood cells are smaller than usual. Thalassaemia carriers healthy and normal. A carrier can only be detected through thalassaemia screening.
Q: WHY IS IT IMPORTANT TO KNOW THAT YOU ARE A CARRIER?
A: 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.
Q: HOW TO KNOW IF YOU ARE CARRIER?
A: Through blood test:\nA sample of blood is required . The blood sample is sent to the laboratory for testing . The blood results will then be informed.
Ministry of Health Malaysia, Parcel E, Pusat Pentadbiran Kerajaan Persekutuan, 62950 Putrajaya, Malaysia
Q: WHAT IS THALASSAEMIA?
A: Thalassaemia is a hereditary disorder. It can be inherited from both the parents. It can affects males and female alike.
Q: WHAT ARE THE PERCENTAGE OF RISK FOR EVERY PREGNANCY?
A: When both father and mother are thalassaemia carriers, the following can occur:\n 25% chance the child will be thalassaemia patient\n 50% chance the child will be thalassaemia carrier\n 25% chance the child will be normal
Q: WHAT ARE THE SIGNS AND SYMPTOMS OF THALASSAEMIA PATIENT?
A: At birth the baby will appears as normal but after 3 to 18 months, the child will slowly show signs of anaemia which become severe.\nAs the child grows older, he/she appears very pale and sickly. The child is often weak and restless. Severe anaemia can cause breathing difficulties.\nWithout adequate treatment the child will develop:\n Distended abdomen due to enlargement of liver and spleen\n Stunted growth\n Changes in facial bone structures\n Jaundice
Q: WHAT ARE THE TREATMENT FOR THALASSAEMIA PATIENT?
A: 1. Blood Transfusion:\nThalassaemia patients require blood transfusion on a monthly basis. Continuous blood transfusion without chelation therapy will cause iron overload. Complications from iron overload may result in heart failure, multiple organ malfunction and endocrine disorders.\n2. Chelation Therapy:\nExcessive iron can be removed by chelation therapy. \n3. Bone Marrow Transplant:\nBone marrow transplant can only be carried out if there is a suitable donor.
Q: WHAT IS BLOOD?
A: 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.
Q: WHAT IS THE BASIC STRUCTURE OF HAEMOGLOBIN PROTEIN?
A: Each haemoglobin is made up of iron and 4 protein chains. The adult haemoglobin (HbA) is made up of 2 alpha and 2 beta chain.
Q: WHAT ARE GENES?
A: 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.
Q: WHAT IS A THALASSAEMIA CARRIER?
A: A carrier has inherited one normal gene and one thalassaemia gene . The thalassaemia gene cannot produce haemoglobin, or can only produce a small amount. Thalassaemia carriers have less haemoglobin in each red blood cell and their red blood cells are smaller than usual. Thalassaemia carriers healthy and normal. A carrier can only be detected through thalassaemia screening.
Q: WHY IS IT IMPORTANT TO KNOW THAT YOU ARE A CARRIER?
A: 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.
Q: HOW TO KNOW IF YOU ARE CARRIER?
A: Through blood test:\nA sample of blood is required . The blood sample is sent to the laboratory for testing . The blood results will then be informed.
Ministry of Health Malaysia, Parcel E, Pusat Pentadbiran Kerajaan Persekutuan, 62950 Putrajaya, Malaysia
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