Question

DNA sequencing of your own two β-globin genes reveals a mutation in one of them. Given this information alone, how much should you worry about being a carrier of an inherited disease that could be passed on? What other information would you want to know in order to assess your risk?

Answer 1

If one Beta- globin genes reveal mutation it means that the person may be a carrier of beta- thalassemia.

The above condition seems to be β-thalassemia which is inherited in an autosomal recessive manner. Beta thalassemias are caused by mutations in the HBB gene on chromosome 11.

Beta thalassemia is a blood disorder that reduces the production of hemoglobin.

In people with beta thalassemia, low levels of hemoglobin lead to a lack of oxygen in many parts of the body.

People with beta thalassemia are at an increased risk of developing abnormal blood clots.

So based on a cross assuming that the above mentioned person' s parents don't suffer from this disease, there are chances that they are carriers.

Information in order to assess the risk-

So the family history has to be known before drawing a conclusion. If the parents are carriers then the chances will be

1 in 4 child will be normal.

2 will be heterozygotic carriers.

1 will be sufferer of the disease.

Hence there are 50% chances of you being a carrier if both parents are carriers(2/4) .