Sickle cell anemia is a genetic blood disorder, caused by a single mutation in the gene for hemoglobin.hemoglobin. It is found primarily in people of African ancestry.

Sickle cell Normal red Normal red blood cellblood cell

Sickle Cell AnemiaSickle Cell Anemia

Hemophilia is a rare genetic blood disorder, in which one of the clotting factors in the blood is not produced.

Queen Victoria of England, a famous carrier of the hemophilia gene.

People with hemophilia may bleed for a longer time than others after an injury. They also may bleed internally, especially in the knees, ankles, and elbows.

About 1 in 5000 boys is born with hemophilia. The condition is much rarer in females.

Princess Alexandra of Russia, Queen Victoria’s granddaughter, was also a carrier of the hemophilia gene. Her son, Prince Alexei, was a hemophiliac. The entire family was murdered during the Russian Revolution in 1918.

Hemophilia

An albino child, USA

An albino child in Tanzania

People with albinism have little or no pigment in little or no pigment in their eyes, skin, or hairtheir eyes, skin, or hair. They have inherited mutated genes that do not make the usual amounts of a pigment called melaninmelanin. One person in 17,000 in the U.S.A. has some type of albinism.

Albinism

ALBINO ANIMALS WEBSITE

Down Syndrome, or Trisomy 21, occurs when a person has 3 copies of Chromosome 21, instead of the normal 2 copies.

A few of the common physical traits of Down syndrome are low muscle tone, small stature and an upward slant to the eyes.

People with Down syndrome have cognitive delays ranging from mild to severe. They also have an increased risk for congenital

heart defects and respiratory, vision & hearing problems.

Down SyndromeDown Syndrome

Cystic fibrosis (CF) is an inherited disease in which the body produces abnormally thick mucusabnormally thick mucus in the lungs and pancreas.The mucus builds up in the lungs and blocks the airways. This makes it easy for bacteria to grow and leads to repeated serious lung infections. Over time, these infections can cause serious damage to the lungs.The thick, sticky mucus can also block tubes, or ducts, in the pancreas. As a result, digestive enzymes that are produced by the pancreas cannot reach the small intestine. These enzymes help break down the food that you eat. Without them, the intestines cannot absorb fats and proteins fully.

Cystic FibrosisCystic Fibrosis

is a condition characterized by short stature (an adult height of 4 feet 10 inches or under).can be caused by more than 200 conditions, most of which are genetic. The most common type (70%) is called achondroplasiaachondroplasia.

can and most often does occur in families where both parents are of average height. 85% of children with achondroplasia are born to average-size parents.

Family from “Little People, Big World”

Dwarfism

Turner Syndrome

Klinefelter Syndrome

Triple X syndrome

XYY syndrome

Genetic abnormalities of the XY Genetic abnormalities of the XY ChromosomesChromosomes

Fragile X syndrome is caused by a mutation in the FMR1 gene, located on the X chromosome. The mutated gene cannot produce enough of a protein that is needed by the body's cells, especially brain cells, to develop and function normally.

There are a variety of symptoms, including: mental retardation, hyperactivity, short

attention span, and autism.

Click here to learn more about FXS

Fragile X Syndrome (FXS)Fragile X Syndrome (FXS)

Inability to see certain colors in the usual Inability to see certain colors in the usual wayway A sex-linked trait that usually affects malesA sex-linked trait that usually affects males

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Color-blindnessColor-blindness

Links to Other Genetic Disorders