Question

Which of the following is an autosomal recessive genetic disorder?
(A) Haemophilia
(B) Skeletal dysplasia
(C) Sickel cell anaemia
(D) None of the above

Answer 1

Hint:
Autosomal disorders are those which are not present on sex chromosomes rather they are present on any of the 22 somatic chromosomes. Dominant disorders can be expressed even when one out of the two alleles is present but in order to express recessive disorders both alleles must be present that is the condition must be homozygous.

Complete step by step solution:
Dominant disorders can be expressed in heterozygous form as well but homozygosity is essential for recessive disorders to be expressed.
A genetic bleeding ailment called haemophilia causes the blood to clot improperly. This may result in both spontaneous bleeding and bleeding after injury or surgery. Blood contains a variety of clotting proteins that can aid in halting bleeding. Due to the fact that males only have one X chromosome, haemophilia is a hereditary condition that is X-linked and recessive in nature. Females are typically carriers since they have an extra X chromosome, however, heterozygous carriers frequently exhibit haemophilia symptoms.
The medical term "skeletal dysplasia" refers to a collection of roughly 400 diseases, including its most prevalent type, achondroplasia, that impact bone formation, neurological function, and cartilage growth. A genetic condition is a skeletal dysplasia. Some kids get the illness from their parents. In some instances, an unidentified cause might cause a baby's DNA to mutate (alter) during pregnancy, resulting in skeletal dysplasia.
The gene that instructs the body to produce haemoglobin, an iron-rich substance found in red blood cells, is altered in sickle cell anaemia. Red blood cells deliver oxygen from the lungs throughout the body thanks to haemoglobin. Anaemia is a disorder that might make you feel exhausted. Additionally, the sickle-shaped cells have the ability to adhere to vessel walls, resulting in a blockage that slows or halts blood flow. This prevents oxygen from getting to the tissues in the area. Pain crises, also known as rapid, intense pain episodes, can be brought on by a shortage of oxygen.
A hereditary condition, sickle cell disease affects persons who have African ancestry. The disease is inherited as an autosomal recessive characteristic and is brought on by mutations in one of the genes that code for the haemoglobin protein. Red blood cells with the mutation have a unique sickle shape.

Option ‘C’ is correct

Note:
Because red blood cell hypoxia results from malaria parasite infection, the sickle cell mutation is related to malaria. As a result of the body's immune system's macrophage cells eliminating the sickling blood cells in AS genotype individuals, the burden of infection is reduced.