Genetic mutations cause permanent changes in a DNA sequence that makes up a gene, according to Medline Plus. Mutations can range in size, varying from a single DNA block to a large segment of a chromosome. Individuals inherit genetic mutations from parents or develop them during their lifetime. Common mutation diseases include cystic fibrosis, hemophilia, color vision deficiency and Tay-Sachs disease.
Cystic Fibrosis
A common, inherited genetic disease known as cystic fibrosis affects mainly the Caucasian population of the United States, according to the Genetics Home Reference. The disease occurs in 1 out of 2,500 to 3,500 Caucasian newborns. Cystic fibrosis affects the mucus glands, causing progressive damage to the respiratory and digestive systems.
Cystic fibrosis patients produce abnormally thick and sticky mucus, due to the mutation of the CFTR gene. The thick mucus can obstruct the airways, causing severe breathing problems along with bacterial infections within the lungs. Scar tissue (fibrosis) and cysts develop over time, causing progressive lung damage due to excessive mucus buildup and bacterial infections, according to the Genetics Home Reference.
Hemophilia
A bleeding disorder, known as hemophilia slows the blood-clotting process. Hemophiliacs often experience prolonged bleeding after injury or surgery. Both major forms of hemophilia, A and B, occur more frequently in males. The more predominant form, hemophilia A, occurs in approximately 1 in 4,000 newborn males worldwide.
Hemophilia A and B have very similar signs and symptoms, but their mutations affect different genes. Hemophilia A mutates the F8 gene, while hemophilia B mutates the F9 gene.
Color Vision Deficiency
Medline Plus states red-green color vision defect, the most common color vision deficiency, causes individuals to have difficulty in distinguishing between the colors red and green, due to lack of color perception. The red-green color vision defect occurs primarily in people of Northern European decent, affecting approximately 8 percent of males and 0.5 percent of females. Individuals inherit the red-green color vision defect gene on the X chromosome, which has become mutated. Males have only one X chromosome, and females have two, making males more predisposed to color vision deficiency because they don't have another X chromosome to make up for the defective gene.
Tay-Sachs disease
A rare inherited disorder, known as Tay-Sachs, destroys nerve cells (neurons) of the brain and spinal cord over time, according to the Genetics Home Reference. The Genetics Home Reference states Tay-Sachs mutates the HEXA gene typically during infancy. After this period the infants development slows and their muscles become weak, affecting their motor skills. The Genetics Home Reference states affected infants have trouble turning over, sitting and crawling. As Tay-Sachs progresses into childhood, children experience seizures, vision and hearing loss, intellectual disability and paralysis.
