Question

Which among the following is/are autosomal recessive genetic disorder(s)?

• A. Thalassemia
• B. Sickle cell anaemia
• C. Phenylketonuria
• D. All of these

Answer 1

The correct option is D All of these

Thalassemia, sickle cell anaemia and phenylketonuria are autosomal linked recessive genetic disorders. These are autosomal recessive disorders because these disorders equally get expressed in females and males, when both the alleles of the genes are altered on the autosomal chromosomes. This means that they need to be in homozygous condition to get expressed.

In thalassemia, the body does not make enough of haemoglobin protein.

In sickle cell anaemia, due to abnormal structure of haemoglobin the RBCs become sickle shaped.

In phenylketonuria, a person lacks enzymes responsible for conversion of phenylalanine to tyrosine.