Question

Fast forward 10 years. You are a genetic counselor and are in a room with a patient who has recently been diagnosed as a carrier of sickle-cell anemia, which is an autosomal recessive disorder. Explain to your patient what it means to be a carrier of a disease.

Answer 1

Hello. Have you heard of genes? A gene is a code that determines the different features of all living beings. That is the skin colour, eye colour, height, hair colour, whether it's straight or curly, everything has a gene that controls such characteristics. For a particular characteristic, two genes are there in an individual. One he recieved from father and the other from mother. These genes are present in each and every cell of our body. The haemoglobin of red blood cells or RBCs in our body is also formed as a result of such genes. However in some people there can be a genetic disorder named sickle cell anemia. This is due to a defective gene Hbs which alters the shape of RBCs. But this disease is autosomal recessive type which means that only when both the genes, the one you recieved from your father as well as your mother, are Hbs type, then the disease will manifest. You are a carrier for this disease because you have only one Hbs gene and are normal. However there is a chance that your children can have the disease depending on the genetic build up of your partner. Hence it is advised to undergo some tests before you plan to have kids.