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Beta thalassemia
Beta thalassemia
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I. Alpha thalassemia is a blood disorder that reduces the production of hemoglobin, which is the protein in red blood cells responsible for carrying oxygen throughout the body. Those affected experience a shortage of efficient oxygen-carrying red blood cells, causing anemia, and manifesting in the observable signs of: pale skin, weakness, fatigue, or serious complications when coupled with other illnesses. Thalassemia is a blood disorder passed down through families (since it is inherited siblings may share this disease) in which the body makes an abnormal form of hemoglobin, resulting in excessive destruction of red blood cells and diminishing the affected person’s normal, healthy red blood cells. Damage to the body is caused by either a genetic mutation or a deletion of HBA1 and HBA2 genes. Because each person inherits two alpha-globin alleles from each parent, when both parents are missing at least one alpha-globin allele, the child is at risk of having Hb Bart syndrome, HbH disease, or alpha thalassemia depending on the number of missing working alleles. Involving the genes HBA1 and HBA2, alpha-thalassemia is due to impaired production of either 1, 2, 3, or 4 alpha globin chains, leading to an excess of beta globin chains. There are four copies of the gene instructing the body to make alpha globin; the more functioning genes a person has, the more alpha globin is made, whereas the number of non-working genes determines what type of alpha thalassemia a person has since when one or more of the alpha globin genes is not working properly, less alpha globin is made. There exist different types of alpha thalassemia: having three normal alpha genes results in a silent carrier state; two normal alpha genes results in mic... ... middle of paper ... ... a potential indirect association, since that is the necessary condition to go any further. The language of the Bill states a laboratory must have at least achieved a partially successful statistical threshold to carry on with further testing. However, the laboratory and scientists will no longer be bound by the EMR or EKR restrictions which depend on the four major ethnic groups in the FBI’s allele frequency database, meaning the scientists at testing laboratories will be responsible for determining if further testing is needed based on the sample in question. Unsolved crimes will continue to haunt victims and their families if our state’s forensic scientists are denied the ability to conduct further testing if the statistical threshold value is met, since there are new familial testing innovations in the field that may help us decipher otherwise cold cases.
This law requires states to have a process established for conducting criminal background checks for foster and adoptive parents in order to care for children. It is said that provisions in the law have had an impact on the process of being approved for foster care and adoption. It has slowed down the process for children to be placed with relatives as well. Under the new provisions states are required to conduct ...
“DNA samples of semen retrieved from the crime scene matched blood drawn from Andrews. At that time, no state had a DNA databank. However, after witnessing the power of DNA evidence, state courts and state legislatures would soon grapple with the issue of whether DNA evidence should be admitted at trial as identity evidence and whether establishing state DNA databanks would be feasible and of value to law enforcement. A review of current law reveals that almost every state has embraced and institutionalized the utilization of DNA fingerprinting for crime fighting purposes” (Hibbert,
A short trip to the library computer lab to check on sources for this paper led me to believe that fiction could in part become real, especially when dealing with health insurance coverage and heritable diseases. I will begin by clearing up some misconceptions and explaining some of the current shortcomings of DNA testing. It is not possible to completely genotype a person "instantly" as in the movie. We are only able to discern the markers of some diseases that are genetically linked. This takes time, is labor intensive, and is easy to contaminate.
Familial DNA searching works by using the combined DNA index system (CODIS) to compare DNA samples taken from crime scenes to DNA profiles already recorded in the local, state, or national criminal DNA database. There are many indexes in the database; two of the largest are the offender index, a catalogue of DNA profiles from previously convicted felons, and the forensic index, a catalogue of DNA from crime-scenes. A DNA sample is run through the database by CODIS’ matching algorithm that searches the indexes against one another to generate matches according to how often base pairs, or “markers,” repeat in th...
Teutch, S., & Tuckson, R. Department of Health & Human Services, (2008). U.S. system of oversight of genetic testing: A response to the charge of the secretary of health and human services. Retrieved from website: http://osp.od.nih.gov/sites/default/files/SACGHS_oversight_report.pdf
Thalassemia is an inherited blood disorder characterized by low amounts of hemoglobin and a low count of erythrocytes in the body. Thalassemia is caused by mutations in the deoxyribonucleic acid of cells, which makes hemoglobin. The mutations are passed from parent to child. The mutations vary depending on the type of Thalassemia inherited. The variation in the mutation occurs from the number of gene mutations, which are inherited, as well as mutation within the hemoglobin molecule. Clinical manifestations are diverse ranging from asymptomatic, to those who are carriers of the thalassemia, which may have mild symptoms, there also people who posses the trait, who may have severe symptoms which lead to death.
Albinism is a genetically linked disease and is presented at birth; it is characterized as a lack of pigment called melanin that normally gives color to a person’s skin, hair and eyes. This results in milky white hair and skin, and blue- gray eyes. Melanin is synthesized from amino acid called tyrosine, which originates from the enzyme tyrosinase. Albinism affects all races and both sexes; people with this disease have inherited a recessive, nonfunctional tyrosinase allele from both parents (Saladin 189). The inheritance of Albinism is coded in the gene of the parent’s alleles. Alleles are two different versions of the same gene or trait and are found on the same place of a chromosome. One allele is coded for the production of melanin that will produce normal skin, hair and eye color and another allele that represent the lack of melanin that produces abnormal skin, hair and eyes.
Out of the various amounts of genetic blood disorders in the world, Thalassemia is one of the more common known diseases. Thousands of infants with beta thalassemia are born each year. There are two different types of thalassemia related problems, alpha thalassemia, and beta thalassemia. The differences between the two types of thalassemia lie in the hemoglobin chain that is affected. For this paper the focus will be on beta thalassemia. Beta thalassemia is divided into three subcategories. The forms are thalassemia minor, thalassemia intermedia, and thalassemia major. The topics relating to beta thalassemia that are going to be explored are inheritance patterns, genes, mutations and proteins involved with Beta Thalassemia.
STOLBERG, S. G. (n.d.). U.S. Panel Moves to Force Disclosure in Gene Testing - New York Times. The New York Times - Breaking News, World News & Multimedia. Retrieved September 22, 2011, from http://www.nytimes.com/1999/10/30/us/us-panel-moves-to-force-disclosure-in-gene-testing.html?ref=jessegelsingerhttp://
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.
Before the 1980s, courts relied on testimony and eyewitness accounts as a main source of evidence. Notoriously unreliable, these techniques have since faded away to the stunning reliability of DNA forensics. In 1984, British geneticist Alec Jeffreys of the University of Leicester discovered an interesting new marker in the human genome. Most DNA information is the same in every human, but the junk code between genes is unique to every person. Junk DNA used for investigative purposes can be found in blood, saliva, perspiration, sexual fluid, skin tissue, bone marrow, dental pulp, and hair follicles (Butler, 2011). By analyzing this junk code, Jeffreys found certain sequences of 10 to 100 base pairs repeated multiple times. These tandem repeats are also the same for all people, but the number of repetitions is highly variable. Before this discovery, a drop of blood at a crime scene could only reveal a person’s blood type, plus a few proteins unique to certain people. Now DNA forensics can expose a person’s gender, race, susceptibility to diseases, and even propensity for high aggression or drug abuse (Butler, 2011). More importantly, the certainty of DNA evidence is extremely powerful in court. Astounded at this technology’s almost perfect accuracy, the FBI changed the name of its Serology Unit to the DNA Analysis Unit in 1988 when they began accepting requests for DNA comparisons (Using DNA to Solve Crimes, 2014).
Thalassemia is basically a name for similar groups of inherited blood diseases that involve missing or abnormal genes regarding the protein in hemoglobin which is the red blood cells that carry oxygen throughout the body. I will discuss the different types of Thalassemia, how Thalassemia is diagnosed, and the treatments available. I will also discuss the complications and side effects of the treatments, the disease’s causes and effects, and how it is more dominant in some parts of the world than others. Thalassemia is a blood disorder which means the body makes fewer healthy red blood cells and less hemoglobin. Hemoglobin is a protein that carries oxygen throughout the body and having less hemoglobin leads to anemia. Alpha globin and beta globin are the proteins that create Hemoglobin. A defect in the gene that helps control production of alpha or beta goblin leads to Thalassemia. Fewer blood cells leads to anemia, which is the common culprit in Thalassemia.
A patient with sickle cell has inherited the condition from both parents, and it all starts in the hemoglobin. Hemoglobin is “an iron-containing protein in red blood cells that reversibly binds to oxygen” (Reece, Urry, Cain, Wasserman, Minorsky, & Jackson, 2011). Obviously, hemoglobin is an important substance for oxygen to be transported in red blood cells. However, a patient with sickle cell has irregular hemoglobin cause by inherited genes. This “oxygen delivery” system cannot function properly because a gene
Vitamin B12 is an essential nutrient that plays an important role in DNA synthesis and nerve function. It is contained in high amounts in animal derived foods such as milk, eggs, and meat. The vitamin is stored in the liver long-term. Individuals with vegetarian, vegan, or other forms of restricted diet may develop the condition after approximately 6 months as liver stores of vitamin B12 become depleted. Some individuals develop the condition due to autoimmune destruction of cells in the stomach that produce intrinsic factor. Intrinsic factor is necessary for proper absorption of vitamin B12 in the small intestine.
There are two main types of thalassemia. The first one is Alpha thalassemia. This occurs when a gene or genes related to the alpha globin protein are missing or mutated. It happens mostly in Southeast Asia, the Middle East, China, and in those of African descent. If one gene is missing or damaged: Your red blood cells might be smaller than normal. You will have no symptoms and you will not need treatment. If two genes are missing or damaged, you will have very mild anemia that will typically not need treatment. This is called alpha thalassemia minor or alpha thalassemia trait. If three genes are missing: You will have mild to moderately severe anemia. This is called hemoglobin H disease. If it is severe, you may need blood transfusions.