Sickle Cell Andrew Novoa and Thea De Guzman 2/1/10 Per. 3

Summary Of Genetic Disorder What is the disorder? - An inherited genetic disorder of defective hemoglobin - When red blood cells form curved or sickle shapes resulting a blockage of small blood vessels. - Tissue is damage and pain can be severe. Symptoms 1.family members also have sickle cell 2. fatigue, breathlessness, rapid heart rate, 3.delayed growth and puberty, susceptibility to infections, 4.Bloody urination, excessive thirst, excessive penis pain, 5.Priapism, chest pain and decreased fertility. Interesting facts -In the United States sickle cell is more common in African Americans. - Around the world, sickle cell is most common among people of African and Middle Eastern descent. - About 70,000 Americans have sickle cell disease and another 2 million have sickle cell trait. sickle cell disease is the most common inherited blood disorder.

Chromosome affected Chromosome 11

Mode of Inheritance Sickle cell disease is an inherited condition. Two genes for the sickle hemoglobin must be inherited from one's parents in order to have the disease. A person who receives a gene for sickle cell disease from one parent and a normal gene from the other has a condition called "sickle cell trait". Sickle cell trait produces no symptoms or problems for most people. Sickle cell disease can neither be contracted nor passed on to another person. The severity of sickle cell disease varies tremendously. Some people with sickle cell disease lead lives that are nearly normal. Others are less fortunate, and can suffer from a variety of complications. X-linked dominant and recessive are caused by mutations in genes on the x chromosomes, X- linked disorder is more affected on females than males, therefore, X-linked recessive, also known as a sex linked is more affected on males than females, Both often have males and females affected in each generation but a father cannot pass x-linked traits to their sons, there is no male to male transmission. Furthermore, the chances of passing on the disorder is between men and woman. Autosomal recessive only happens when both parents are recessive but their child is dominant, creating a single copy of the mutated gene affecting the child with the disorder. An Autosomal dominant happens when one parent is affected so it will occur in every generation of an affected family.

Alleles for sickle cell People have 2 alleles for the hemoglobin and hemoglobin has two parts to it, an alpha and a beta. Sickle cell is when a mutation in a gene on chromosome 11 that codes for the beta subunit of the hemoglobin protein. As a result, hemoglobin molecules don't form properly, causing red blood cells to be rigid and have a sickle shape. The Chromosome comes from you parents that carry the disorder and pass it to you. Recessive is represented with a lower case letter. A Dominant trait is represented by a upper case letter. X-Linked is represented with Xs, or Xs, or Y

Probability Ratios Homozygous Dominant 1GG Heterozygous Dominant 2Gg Homozygous recessive 1gg Percentages Homozygous Dominant 25%GG Heterozygous Dominant 50% Homozygous recessive 25%gg s S s S