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  • Essay / Alpha Thalassemia Essay - 2872

    I. Alpha thalassemia is a blood disorder that reduces the production of hemoglobin, the protein found in red blood cells responsible for carrying oxygen throughout the body. Affected individuals suffer from a lack of effective oxygen-carrying red blood cells, causing anemia and manifesting with observable signs of: pale skin, weakness, fatigue, or serious complications when combined with other illnesses. Thalassemia is a blood disease passed down from generation to generation (because it is hereditary, siblings may share this disease) in which the body produces an abnormal form of hemoglobin, leading to excessive destruction of red blood cells and a decrease in blood cells. normal, healthy reds of the affected person. . Damage to the body is caused by either a genetic mutation or deletion of the HBA1 and HBA2 genes. Since 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 for Hb Bart syndrome, HbH disease or alpha thalassemia depending on the number of missing alleles. alleles. Involving the HBA1 and HBA2 genes, alpha-thalassemia is due to impaired production of 1, 2, 3 or 4 alpha-globin chains, leading to an excess of beta-globin chains. There are four copies of the gene that instructs the body to make alpha-globin; the more functional genes a person has, the more alpha globin they produce, while the number of non-functional genes determines the type of alpha thalassemia a person has. Because when one or more alpha globin genes are not working properly, less alpha globin is made. There are different types of alpha thalassemia: having three normal alpha genes results in a silent carrier state; two normal alpha genes give mic...... middle of paper...... a potential indirect association, since it is the necessary condition to go further. The bill's language states that a laboratory must have met at least a partially passed statistical threshold to continue testing. However, the laboratory and scientists will no longer be bound by EMR or EKR restrictions that depend on the four major ethnic groups in the FBI's allele frequency database, meaning that scientists at testing laboratories will be responsible for determining whether further testing is necessary depending on the sample in question. Unsolved crimes will continue to haunt victims and their families if our state's medical examiners are denied the ability to perform additional testing if the statistical threshold value is met, as there are new innovations in family testing in the field that could help us decipher otherwise unsolved cases..