BIRTH DEFECTS AND GENETIC DISORDERS

ALPHA THALASSEMIA

Severe anemia that reduces ability if the blood to carry oxygen; nearly affected all affected infants are stillborn or die soon after birth

BETA THALASSEMIA (Cooley’s Anemia)

Severe anemia resulting in weakness, fatigue, and frequent illness; usually fatal in adolescence or young adulthood

CYSTIC FIBROSIS

Over production of mucus, which collects in the lung and digestive tract; children do not grow normally; short life span; the most common inherited lethal defect among White people

HEMOPHILIA

Excessive bleeding, usually affecting males in its most severe form, can lead to crippling arthritis in adulthood

Duchenne Muscular Dystrophy

Fatal disease usually found in males, marked by muscle weakness and minor intellectual disability; respiratory failure and death usually occur in young adulthood

ANENCEPHALY

Absence of brain tissues; infants are stillborn or die soon after birth

SPINA BIFIDA

Incompletely closed spinal canal, muscle weakness or paralysis, and loss of bladder and bowel control; often accompanied by hydrocephalus, an accumulation of spinal fluid in the brain, and intellectual ability

PHENYLKETONURIA (PKU)

Metabolic disorder resulting to intellectual disability

POLYCYSTIC KIDNEY DISEASE (Infantile Form)

Enlarged kidneys, leading to respiratory problems and congestive heart failure

POLYCYSTIC KIDNEY DISEASE (ADULT FORM)

Kidney pain, kidney stones, and hypertension resulting in chronic kidney failure

SICKLE CELL ANEMIA

Deformed red blood cells that clog blood vessels, depriving the body oxygen; symptoms include severe pain, stunted growth, infections, leg ulcers, gallstones, pneumonia and stroke

TAY SACHS DISEASE

Degenerative disease of the brain and nerve cells resulting in death before age 5