Common Disorders

Hemophilia- refers to a group of inherited disorders that cause abnormal bleeding. The bleeding occurs because part of the blood called plasma has too little of a protein that helps blood clot. Symptoms of hemophilia range from increased bleeding after trauma, injury, or surgery to sudden bleeding with no apparent cause. There are two types of hemophilia.                                                                                                               Average age of diagnosis: Less than 2 years.
Test used to detect: Blood test.
Located on chromosome: X
Autosomal or sex-linked: Sex-linked.
Symptoms: Nosebleeds, bruising, bleeding for no reason, blood in urine and stool

Tay Sachs- a deadly genetic disease that affects the brain and nerves. There is no treatment or cure for Tay-Sachs, but supportive efforts focus on making the patient comfortable and reducing effects of symptoms. Tests can tell if you or your partner carry the gene that can cause this condition.                                                                       Average age of diagnosis: 3-6 months old.
Test used to detect: Blood test, body tissue test, or eye exam.
Located on chromosome: 15
Autosomal or sex-linked: Autosomal
Symptoms: Deafness, blindness, increased startle response,paralysis, seizures, slow development.

Sickle Cell

Sickle cell anemia is a painful disease caused by red blood cells that become malformed into bent and distorted shapes. These "sickled" cells don't have the ability to flex like the normal cells as they travel through the capillaries. When the red cells sickle, the tissues can't get oxygen and get even hungrier, This actually causes more sickling to happen and things gets worse and worse. A person in a sickle cell crisis may have a fever, they can even have a stroke if they are not treated promptly.                                                 Average Age of Diagnosis: Early infancy/At birth.
Test Used to Detect: Blood test.
Located on Chromosome: 11
Autosomal or Sex-Linked: Autosomal
Symptoms of Disease: Anemia, episodes of pain, frequent infections, delayed growth.

Muscular Dystrophy-  A group of inherited disorders that involve muscle weakness and loss of muscle tissue.
Average Age of Diagnosis: 2-7 years old.
Test Used to Detect: Enzyme tests, genetic testing, muscle biopsy, heart-monitoring tests, lung monitoring tests.
Located on Chromosome: X
Autosomal or Sex-Linked: Sex-linked.
Symptoms of Disease: Frequent falling, difficulty getting up from lying or sitting, trouble, running, & jumping, walking on the toes, muscle pain and stiffness.


Define the Disease: Inability to see certain colors in the usual way.
Average Age of Diagnosis: 5 years old.
Test Used to Detect: A Lantern test
Located on Chromosome: X
Autosomal or Sex-Linked: Sex-linked.
Symptoms of Disease: Trouble seeing colors and the brightness of colors in the usual way, inability to tell the difference between shades of the same or similar colors.

PKU-  A rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine.
Average Age of Diagnosis: Early infancy.
Test Used to Detect: PKU Test.
Located on Chromosome: 12
Autosomal or Sex-Linked: Autosomal
Symptoms of Disease: Seizures, tremors or jerky hand and leg movements, hyperactivity stunted growth, eczema, a distinct odor in breath, skin, or urine that is often described as musty.

Huntingtons Disease- Disease that causes the progressive breakdown (degeneration) of nerve cells in the brain.
Average Age of Diagnosis: 30-50 years old.
Test Used to Detect: Genetic test.
Located on Chromosome: 4
Autosomal or Sex-Linked: Autosomal
Symptoms of Disease: A decline in thinking & reasoning skills, loss of coordination and balance, slurred speech, jaw clenching or teeth grinding, difficulty swallowing or eating. poor judgment.

Dwarfism- Short stature that results from a genetic or medical condition.
Average Age of Diagnosis: Infancy
Test Used to Detect: Examination of measurements, appearance.
Located on Chromosome: 4
Autosomal or Sex-Linked: Autosmomal
Symptoms of Disease: Bowed legs, scoliosis, kyphosis, back problems, top-heavy head in, comparison to the rest of the body, sleep apnea   

Down Syndrome

When a person has 47 chromosomes instead of 46

Avg. Diagnosis Age: Birth - Early Childhood

Tests Used:  Screening Tests, Diagnostics Test

Located on Chromosome: 21


Symptoms: Flattened Facial Features, Small Head, Short Neck, Upward Slanted Eyes, Unusually Shaped or Small Ears, Excessively Flexible, Short Height

Cystic Fibrosis

Definition: a disease passsed through generations that causes thick, sticky mucus to accumulate in the lungs, digestive track,mand other areas of t anbody

Average Age of Diagnosis: 2 years old

Test Used: Sweat Test, Newborn Screening, Carrier Test

Located on Chromosome: 7


Symptoms: Wheezing, Breathlessness, Repeated Lung Infections, Intestinal Blockage, Severe Constipation

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