Question

Name a blood related autosomal Mendelian disorder. Why is it called Mendelian disorder? How is the disorder transmitted from parents to offspring's?

Answer 1

Sickle-cell anaemia is a blood related autosomal Mendelian disorder. It is an autosomal recessive genetic disorder. The disease is caused by a mutation in the beta-globin gene responsible for producing a subunit of haemoglobin. It is called Mendelian disorder because it is controlled by a single locus in an inheritance pattern and mutation in a single gene can cause a disease. Since it is a recessive disorder, two defected genes must be transferred from parents to offsprings in order to have the disease. When only one defective gene is transferred from the parent to offspriing, it results in the sickle cell trait. In this, the offspring is carrier of the disease.