Genetic Disorders

Hemophilia

A sex-linked recessive disorder (X-linked) where blood fails to clot properly due to missing clotting proteins. Affected individuals may bleed excessively from even minor cuts. Common in males; females can be carriers.

Color Blindness

A sex-linked recessive disorder (X-linked) causing difficulty distinguishing certain colors, especially red and green. More common in males. Caused by a mutation in photoreceptor genes on the X chromosome.

Duchenne Muscular Dystrophy (DMD)

A sex-linked recessive disorder that causes progressive weakening and loss of skeletal muscle. Symptoms begin in early childhood; most patients are in wheelchairs by adolescence. Affects almost only males.

Cystic Fibrosis

An autosomal recessive disorder caused by mutations in the CFTR gene. Leads to thick, sticky mucus in lungs and digestive system, causing respiratory and digestive problems. Most common lethal genetic disorder in people of European descent.

Huntington’s Disease

Huntington’s Disease

An autosomal dominant disorder that causes progressive breakdown of nerve cells in the brain. Symptoms include memory loss, uncontrolled movements, and personality changes, usually starting in mid-adulthood.

Sickle Cell Anemia

A codominant autosomal disorder where red blood cells become sickle-shaped, leading to pain, fatigue, and organ damage. Individuals with one copy of the gene (carriers) are resistant to malaria.

Down Syndrome

A chromosomal disorder caused by trisomy 21 (an extra copy of chromosome 21). Symptoms include intellectual disability, distinct facial features, heart defects, and delayed development. Caused by nondisjunction during meiosis.

Turner Syndrome

A chromosomal disorder where a female has only one X chromosome (XO). Individuals are sterile, often short in stature, and may have webbed necks or other developmental differences. Caused by nondisjunction.