Your DNA codes for everything you are, genetically and phenotypically. Sometimes, things go awry and mistakes are made. There is an abundance of genetic disorders from mutations that happen in nature constantly. With these mutations come consequences. One of these is sickle-cell disease. Sickle-cell disease is a blood disorder genetically caused by a point mutation in the β-globin trait . A point mutation defined by “Principles of Life” is “a result from a gain, loss, or substitution of a single nucleotide.” This single change to the gene codes for a polypeptide and not the normally needed protein. Instead of coding for a glutamic acid, it codes for a valine. This disorder is recessive, meaning a person would need two recessive alleles with the mutation from both parents to obtain the disease. People with just one allele are able to be healthy carriers of the disease. …show more content…
Hemoglobin, which carries oxygen through the blood, is affected. People with sickle-cell disease have the abnormal molecule of hemoglobin S. This results in the red blood cells acquiring a crescent shape instead of the regular circular shape. . These oddly shaped cells sometimes block capillaries and therefore lead to tissue damage.THere are also exterior symptoms. Sickle-cell disease also is accompanied by dactylitis, the swelling of hands and feet. It also may cause jaundice, a yellow coloring of the skin. Fatigue and restlessness can also be of a
Sex-linked disorders only affect males and are passed down through female carriers. A boy inherits the disorder when he receives an X chromosome with a mutated dystrophin gene (the genetic cause) from his mother. The dystrophin gene is the largest gene found in nature and was identified through a positional cloning approach. It's a highly complex gene, a large rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. www.ncbi.nlm.nih.gov - http://www.ncbi.nlm.nih.gov/.
· genetics: occasionally the disease has a tendency to run in certain families (inherited or genetic predisposition), but this is not common.
What is Sickle cell disease? Sickle cell affects a disease; that disease is called which affects the hemoglobin when the red blood cells that send oxygen through the body are killed off and weakened. Sickle cells can be found in every 1 and 1000 African Americans, it is affecting about 70,000 to 80,000 Americans in the United States. Sickle cell is a death threatening disease, and the severity of symptoms can vary from person to person (Sickle cell disease (SCD), 2015). Some people have light conditions, but others can have severe conditions, which, mean they could be hospitalized. Characteristics of this disease are caused by a minimum of low blood cells, which is called anemia.
Sickle cell anemia occurs when a person inherits two abnormal genes (one from each parent) that cause their red blood cells to change shape. Instead of being flexible and round, these cells are more rigid and curved in the shape of the farm tool known as a sickle - that's where the disease gets its name. The shape is similar to a crescent moon.
Sickle cell was first discovered by Dr. Ernest irons that was a hospital intern who look over a patients cell which seem to be different he called them “sickle cell shaped”. Sickle cell is know as a negro inherited diseases which is incorrect not only African Americans have this diseases. Many other races are effect by this diseases and regions all over the world such as India, Mediterranean countries, South American. In this case sickle disease work kind of like vaccination for malaria another diseases, this is the most common inherited disease in American. Anyone who has sickle trait and have a baby with someone who has the trait also can bring a baby into the world the world with SCD.
Sickle cell anemia is an inherited disease of red blood cells. Normally red blood cells contain a protein called hemoglobin A, which carries oxygen to all the organs in the body. With sickle cell anemia, however, the body makes a different kind of protein, called hemoglobin S.
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
Sickle cell disease is an inherited disease where the red blood cells in the body are produced abnormally by bone marrow as crescent shaped red blood cells. Unlike normal red blood cells, sickle shaped cells are unable to deliver much oxygen to other parts of the body due to the abnormal hemoglobin. Sickle cell’s are stiff and sticky and tend to clump together between blood vessels that can cause pain, damage to the organs, and infections. If a child inherits this disease they can be healthy throughout their life or need special care. “In the United States, SCD is most common among blacks and Hispanics. SCD affects about 1 in 500 black births and about 1 in 36,000 Hispanic births in this country. SCD is also common among people with family from Africa, the Caribbean, Greece, India, Italy, Malta, Sardinia, Saudi Arabia, Turkey or South or Central America (March of Dimes)”.
Sickle cell anemia is the most common in hemoglobin mutation diseases due to mutation to beta-blobin gene. The substitution of valine for glutamate at position 6 of the beta chains paces a nonpolar residue on the outside of hemoglobin S. the oxygen affinity and allosteric properties of hemoglubin are virtually unaffected by this changes. However, this alternation markedly reduces the solubility of the deoxygenated but not the oxygenated form of hemoglobin. Thus, sicking occurs when there is a high concentration of the deoxygenated form of hemoglobin.
Sickle Cell is a disease that affects many people in the world today. It is the number one genetic disorder in the United States. Sickle Cell is deficient hemoglobin. Hemoglobin is what functions in providing oxygen to the cells in the body. The sickle shape comes from the atypical hemoglobin s molecules. Hemoglobin molecules are composed of two different parts called the alpha and beta. The beta subunit of the hemoglobin molecule has a mutation in gene, on chromosome 11 which produces the change in the red blood cell shape causing them to die and not reproduce accurately. The change in shape causes the red blood cells to get stuck in the blood vessels and block the effectiveness of oxygen transport causing pain and organ damage to the body. This disease does not have a cure and some common treatments are used to help patients live with the disease. Some treatment options are antibiotics (penicillin) to prevent infections, blood transfusions, folic acid that help produces new blood cells. These are just some of the current treatments for Sickle Cell.
For almost all types of Albinism both parents or mates must carry an albinism gene in order for their child to have albinism. Because the body has two sets of genes, a person may have normal pigmentation but carry the albinism gene. If a person has one normal gene and one albinism gene that is still enough to pass the disease on to their children. Even if both parents have the albinism gene it does not mean they have the sickness. The baby will have a one out of four chance of getting the disease. This is inherited by autosomal recessive inheritance.
Human genetic engineering can provide humanity with the capability to construct “designer babies” as well as cure multiple hereditary diseases. This can be accomplished by changing a human’s genotype to produce a desired phenotype. The outcome could cure both birth defects and hereditary diseases such as cancer and AIDS. Human genetic engineering can also allow mankind to permanently remove a mutated gene through embryo screening as well as allow parents to choose the desired traits for their children. Negative outcomes of this technology may include the transmission of harmful diseases and the production of genetic mutations. The benefits of human genetic engineering outweigh the risks by providing mankind with cures to multiple deadly diseases.
GSD I is an inherited autosomal recessive disorder with the incidence being 1 in 100,000. Parents may be heterozygote carriers, making them asymptomatic, however they have a 25% chance of having a child that is affected by GSD I. Prenatal diagnosis can be made by completing a liver biopsy at 18-22 weeks but no fetal treatments are currently available and standard newborn screening tests are not able to detect GSD I.