What are some examples of inherited disorders?

Inherited disorders include cystic fibrosis, sickle cell anaemia, haemophilia, Huntington's disease, and Down's syndrome.

Cystic fibrosis is an inherited disorder that primarily affects the lungs and digestive system. It is caused by a mutation in the CFTR gene, which results in the production of thick, sticky mucus that can clog the lungs and obstruct the pancreas. This can lead to serious respiratory and digestive problems. It is an autosomal recessive disorder, meaning that an individual must inherit two copies of the faulty gene, one from each parent, to develop the condition.

Sickle cell anaemia is another inherited disorder, caused by a mutation in the HBB gene. This gene provides instructions for making a protein called beta-globin, a component of haemoglobin, which is responsible for carrying oxygen in the blood. The mutation causes the red blood cells to become sickle-shaped, making it difficult for them to move through small blood vessels. This can lead to episodes of pain, infections, and other complications. Sickle cell anaemia is also an autosomal recessive disorder.

Haemophilia is a group of inherited bleeding disorders in which the blood does not clot properly. This can lead to spontaneous bleeding as well as bleeding following injuries or surgery. Haemophilia is caused by a mutation in one of the genes that provide instructions for making the proteins needed for blood clotting. It is an X-linked recessive disorder, meaning it is usually passed from mother to son.

Huntington's disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability. It is caused by a mutation in the HTT gene. This is an autosomal dominant disorder, meaning that an individual only needs to inherit one copy of the faulty gene to develop the disease.

Down's syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It is not inherited in the traditional sense, but rather, it is usually the result of a mistake in cell division during the development of the egg, sperm or embryo. Down's syndrome is associated with physical growth delays, characteristic facial features, and mild to moderate intellectual disability.