Question

Mention any two autosomal genetic disorders with their symptoms.

Answer 1

Two autosomal genetic disorders are as follows. 

1. Sickle cell Anaemia 

It is an autosomal linked recessive disorder, which is caused by point mutation in the beta-globin chain of haemoglobin pigment of the blood. The disease is characterized by sickle shaped red blood cells, which are formed due to the mutant haemoglobin molecule. The disease is controlled by HbA and HbS allele. The homozygous individuals with genotype, Hb^S Hb^S , show the symptoms of this disease while the heterozygous individuals with genotype, Hb^A Hb^S , are not affected. However, they act as carriers of the disease. 

Symptoms

Rapid heart rate,

breathlessness,

delayed growth and puberty,

 jaundice,

weakness,

fever,

excessive thirst,

chest pain and decreased fertility. are the major symptoms of sickle cell anaemia disease. 

(2) Down’s syndrome

 It is an autosomal disorder that is caused by the trisomy of chromosome 21. 

Symptoms 

The individual is short statured with round head, 

open mouth, 

protruding tongue, 

short neck, 

slanting eyes, 

broad short hands. The individual also shows retarded mental and physical growth.