Is thalassemia a genetic disorder, and can we prevent it?
India, June 14 -- Genetic means inherited from parents through defective genes. Each person has two copies of a gene, one inherited from each parent. A 'carrier' has one normal gene and one defective gene. Thalassemia is a genetic disorder that impairs the body's ability to produce healthy haemoglobin, resulting in severe anaemia in affected children and the need for regular blood transfusions.
A thalassemia carrier is a person who has inherited one defective thalassemia gene from one parent and a normal gene from the other. If both parents are carriers, their child has a 25% chance of inheriting both defective genes, leading to thalassemia major. Most parents discover their carrier status only after having an affected child.
Thalassemia carriers have various reproductive options to prevent transmission of the disorder to their children.
One of the most effective options is Preimplantation Genetic Testing (PGT), in which embryos created through IVF are tested for defective genes, and genetically normal embryos are transferred to the uterus.
Genetic counselling is recommended to help at-risk families understand and evaluate their options.
The author of this article is a senior consultant - medical and reproductive genetics, at Jindal IVF, SCO 21, Sector 20-D, Dakshin Marg, Chandigarh. She can be contacted at 958-246-9429...
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