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Autosomal recessive pattern

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- Cystic fibrosis is the build-up of thick, sticky mucus in the body tubes and digestive system.
- Mutations in the gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein lead to cystic fibrosis.
- Symptoms include:

recurring chest infections.

wheezing, coughing, shortness of breath and damage to the airways (bronchiectasis)

difficulty putting on weight and growing.

- Genetic testing is available, which may also be used as a prenatal screening tool to look for a mutated CFTR gene.
- Gene therapy for cystic fibrosis is a process in which a new, correct version of the CFTR gene would be placed into the cells in a person's body. Although the mutant copies of the CFTR gene would still be there, the presence of the correct copies would give cells the ability to make normal CFTR. Other treatments include antibiotics that enlarge the airways.

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X-linked recessive disorder

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- Deuteranomaly is the most common type of red-green color blindness. It makes green look more red. This type is mild and doesn't usually get in the way of normal activities. Protanomaly makes red look more green and less bright.
- Genetic changes involving the OPN1LW or OPN1MW gene cause red-green color vision defects. The genes that can give you red-green color blindness are passed down on the X chromosome. Since it's passed down on the X chromosome, red-green color blindness is more common in men.
- Symptoms include

trouble seeing colors and the brightness of colors in the usual way;

inability to tell the difference between shades of red and green.

- The Ishihara Plate test is used to test red/green color blindness.
- No treatment is available; however, corrective contact lenses or glasses may help neutralize red-green color blindness.

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X-linked recessive disease

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- Hemophilia is usually an inherited bleeding disorder in which the blood does not clot properly. This can lead to spontaneous bleeding as well as bleeding following injuries or surgery.
- Males can have a disease like hemophilia if they inherit an affected X chromosome that has a mutation in either the factor VIII or factor IX gene. Females can also have hemophilia, but this is much rarer. In such cases, both X chromosomes are affected or one is affected and the other is missing or inactive.
- Symptoms include bleeding into the joints, bleeding into the skin or muscle and soft tissue causing a build-up of blood in the area, and bleeding of the mouth and gums.
- Genetic screening is available which identifies the change in the factor VIII or factor IX gene that prevents blood clots.
- Roctavian gene therapy and injecting treatment products, called clotting factor concentrates, into a person's vein are treatments for hemophilia.

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Autosomal dominant disease

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- Muscular dystrophies are a group of muscle diseases caused by mutations in a person's genes. Over time, muscle weakness decreases mobility, making everyday tasks difficult.
- Duchenne and Becker muscular dystrophy (DMD and BMD) are caused, in the majority of cases, by deletions in the dystrophin gene (DMD) in the X-chromosome.
- Symptoms include difficulty rising from a lying position, frequent falls, muscle pain and stiffness, and waddling gait.
- Genetic screening is available to investigate the family history of DMD.
- Currently, gene therapy is unavailable for muscular dystrophy; however, treatments include steroid medications to maintain muscle strength as long as possible; stretching and other exercises specifically designed for people with muscular dystrophy; braces and splints; assistive devices such as wheelchairs, computer technology, and lifting devices.

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- Autosomal recessive pattern is shown, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition are carriers of the mutated gene, but they typically do not show signs and symptoms of the condition.

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- Sickle cell anemia is an inherited disease in which the red blood cells have an abnormal crescent shape and small blood vessels.
- People who have sickle cell disease inherit two faulty hemoglobin genes, called hemoglobin S — one from each parent. Hemoglobin S is an abnormal hemoglobin that causes the red cells to become sickle-shaped.
- Symptoms include swelling hands and feet, episodes of extreme pain, delayed growth or puberty, and vision problems.

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- Genetic screening is available using high-performance liquid chromatography (HPLC), which identifies which type of hemoglobin is present.
- Stem cell or bone marrow transplants are the only cure for sickle cell disease, but they're not done very often because of the significant risks involved. Stem cells are special cells produced by bone marrow, a spongy tissue found in the centre of some bones.