World Thalassemia Day: Early Prevention Is The Key
In order to raise awareness about Thalassemia- a genetic blood disorder, World Thalassemia Day is observed on May 8th every year. The day also commemorates Thalassemia victims who battle the disease.
The objective behind the day is also to make people aware about Thalassemia and how timely medical consultation can help, so that one's kids are not born with the same genetic disorder as theirs.
What is Thalassaemia?
Thalassemia is an autosomal recessive blood disorder or in simple words a genetic blood disorder which reduces the haemoglobin count. A reduced haemoglobin can result in mild or severe anaemia. This blood disorder hampers the protein molecules resulting in weakening and destruction of the Red Blood Cells (RBC), which affect the haemoglobin formation in the body. The protein present in the RBC helps carry oxygen and circulate it in the body. The disease gets transferred from parents to the children.
Early Thalassemia Symptoms
The signs and symptoms of Thalassemia show up depending on the type of Thalassemia you have- mild or severe. Usually the symptoms show up at the time of birth or develop in the first two years of life. Some of the common symptoms are:
- Dark urine
- Slow growth
- Abdominal swelling
- Pale or yellowish skin
- Facial bone deformities
- Poor appetite
Causes of Thalassemia
Thalassemia is caused by mutations in the DNA of cells that form haemoglobin. This genetic disorder is hereditary. Haemoglobin molecules are made of two types proteins: alpha and beta and one requires both for proper oxygen circulation in body. So, if you have an alpha molecule deficiency, you could be suffering from Alpha Thalassemia; and similarly if you have beta molecule deficiency, you could suffer from Beta-Thalassemia.
How To Treat/Prevent Thalassaemia
- Couples should get Thalassemia test done as only early diagnosis can help prevent the transfer of this haemoglobin gene disorder to a child.
- Discuss with your doctor and show your concern towards this disease as in most of the cases couples hesitate to do so. This will help you with proper genetic counselling and guide you through Thalassemia treatment in time.
- If a couple is not aware about this genetic blood disorder and get to know about it at a later stage, they can still treat and prevent it from transferring to their kids by getting complete reproductive technology diagnosis. This screens the embryo in its early development stage and then treats the genetic mutation with the help of IVF. This can result in the expecting parents having a healthy and Thalassaemia-free baby.
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