Rare Genetic Disorders In Humans

Genetic disorders basically occur due to gene mutation. The mutation may lead to a single gene not working properly or missing and thus affect the production of certain proteins in our body leading to the disorders. There are many genetic disorders but here are some of the rare genetic disorders in humans;

Hemophilia

This disorder occurs when your blood takes longer to clot in order to stop bleeding. There are clotting matter that is protein in nature which helps blood cells to stick together forming a clot. Hemophilia has two major types: A and B and can be mild, moderate, or severe depending on the clotting matter in your blood. The disease largely affects males where 1 in 5000 males is born with the disease.

Sickle cell anemia

It is a blood disorder that affects the hemoglobin in the red blood cells. Hemoglobin is usually found in the red blood cells that help in taking oxygen from the lungs to the tissues in the body. The normal red blood cell has a disc shape and is flexible. This enables it to pass through narrow blood vessels with ease. For sickle red blood cells, they have a sickle or crescent shape that is stiff. This easily causes blockage in the blood vessels, slowing blood from transporting oxygen to the tissues. Approximately 80,000 Americans are affected by the disease with a life expectancy of around 48 years. This type of rare genetic disorder in humans can over time lead to damage to major organs.

Albinism

Albinism is characterized by a total or partial absence of skin, eye, and hair pigment due to a lack of a protein called tyrosinase. Tyrosinase is responsible for the production of melanin. Albinism has led to various skin and eye problems for people suffering from it. Their skin is prone to skin cancers and burns from the sun. Also, the skin is easily susceptible to infections. Various visual problems can be caused by light sensitivity of the eye. About 1 person in 20,000 is born with albinism.

Alzheimer’s disease

Alzheimer’s disease is one of the rarest genetic disorders in humans. The disorder is a brain disease that leads to memory loss. The condition starts with not remembering recent events. As it continues other problems like getting lost and not being able to communicate and eventually losing body functions. The disease is believed to be caused 70% by gene disorder but some risks may also cause the disease to happen like head injuries. It has minimal survival chance and the affected persons may only last up to 10 years. The disease currently affects between 2.4 to 4.5 million Americans.

Down syndrome

The disorder occurs when a person has a full or partial extra copy of chromosome. The additional copy affects development by the person affected with the disease and other characteristics caused by the disease. Some of the physical traits may include low muscle tone and small stature. The disease also affects intelligence and thinking abilities, especially when the person gets to age 50. 1 in 700 newborns are born with the disease.

To avoid these rare genetic disorders in humans, couples can conduct genetic testing and counseling. A doctor specializing in genetics can help couples to avoid having a newborn with any of the disorders.