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

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Presentation on theme: "Hemoglobin. Sickle cell anemia is a genetic blood disorder, caused by a single mutation in the gene for hemoglobin. It is found primarily in people of."— Presentation transcript:

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

2 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

3 An albino child, USA An albino child in Tanzania little or no pigment in their eyes, skin, or hair melanin People with albinism have little or no pigment in their eyes, skin, or hair. They have inherited mutated genes that do not make the usual amounts of a pigment called melanin. One person in 17,000 in the U.S.A. has some type of albinism. Albinism

4 ALBINO ANIMALS WEBSITE

5 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 Syndrome

6 abnormally thick mucus Cystic fibrosis (CF) is an inherited disease in which the body produces abnormally 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 Fibrosis Cystic Fibrosis

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

8 Turner Syndrome Syndrome Klinefelter Syndrome Triple X syndrome syndrome XYYXYY syndrome Genetic abnormalities of the XY Chromosomes

9 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 FXShere Fragile X Syndrome (FXS)

10 Inability to see certain colors in the usual way  Inability to see certain colors in the usual way A sex-linked trait that usually affects males  A sex-linked trait that usually affects males Color-blindness

11 Links to Other Genetic DisordersOther Genetic Disorders


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