Question

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

Hint:

Remember — Thalassemia follows autosomal recessive inheritance and requires both parents to be carriers for an affected offspring.

Answer 1

• Thalassemia is a blood-related autosomal Mendelian disorder.
• It is called a Mendelian disorder because it follows the inheritance patterns first proposed by Gregor Mendel, involving a single gene mutation.
• Thalassemia is caused by mutations in the gene responsible for haemoglobin chain production.
• The disorder is transmitted from parents to offspring when both parents are carriers (heterozygous), with a 25% chance of the child being affected if both defective alleles are inherited.