Thalassemia

I am in support of the “Sickle Cell Disease Research, Surveillance, Prevention, and Treatment Act of 2015.” Sickle Cell is a serious blood disorder that causes red blood cells to become misshaped. These abnormally shaped red blood cells can get clustered into blood vessels and block blood flow to areas of the body. According to the center of disease and control the number of people with sickle cell in the united states is unknown, but it is prevalent amongst African-Americans occurring in 1 out…

CRISPR stands for Clustered Regularly Interspace Short Palindromic Repeats. What CRISPR does is basically cut out a specific part of a genome and replace it with a corrected form. It is able to do this because of two important components. There is the guide molecule and the Cas enzyme. The guide molecule is responsible for taking the Cas enzyme to the piece of DNA sequence that will be edited. The Cas enzyme is responsible for breaking down a segment of the DNA sequence. The cell then has…

blood count where haematological data is assessed (e.g. level of MCV and MCH) and morphology of the red blood cells. Iron studies to check the ferritin level is also included. This is to distinguish iron deficiency that may have been disguising thalassemia. Special haemotological tests are usually done after undergoing full blood count and ferritin examination. These include but not limited to haemoglobin electrophoresis (see Table 1). In case to case basis like pregnant women in the high risk…

by Amy Maxmen, “A month after the Napa conference, researchers at Sun Yat-sen University in Guangzhou, China, announced they had used CRISPR to edit human embryos. Specifically they were looking to correct mutations in the gene that causes beta thalassemia, a disorder that interferes with a person's ability to make healthy red blood cells. Due to the fact that the twins’ healthy birth marks the first time CRISPR has been used to selectively alter multiple genes in primates—a development that…

calculation. Polymorphic DNA markers linked to the disease locus can be used in many single gene disorders for carrier detection, preclinical diagnosis and prenatal diagnosis. 2. Determine the recurrence risk in autosomal recessive disorders such as thalassemia. With an autosomal recessive condition, the parents of an affected child are both heterozygotes. There are two possible exceptions, both of which are very rare. These arise when only one parent is a heterozygote, in which case the child…

Roselvia Escobar, mother of 22-year-old Cesar, begged for blood for her son’s transfusions. Cesar, diagnosed with a disease called thalassemia, needs this blood for his three monthly transfusions. “He’s in bed, drowsy, inactive, and terrified,” Escobar, said “ The right to live doesn’t exist in Venezuela. You just pray to God your loved one doesn’t die.” (Krygier 2). Many families in Venezuela are struggling to find medical supplies, food, and water since the beginning of the Venezuelan crisis.…

Name: Maryam Sadiqa Group Members: Oralia Reyes Anny Then Anthony Mayers Date of lab performed: 06/4/16 Date of submission: 06/23/16 Lab Name: Genes in Human Population lab Page number: 57-66 Purpose of the lab: The purpose of this lab was to work with a partner and identify your partners and as well as your own phenotype and genotype. We did that by deeply observing our bodies and then determining whether we have the following traits. PTC, Darwin’s ear point, ear lobe attachment,…

Genetic Engineering is a controversial technology that has a lot of debate and discussion surrounding it. Scientists and researchers work diligently in labs to improve and experiment with the new technology, while bioethicists look at the possible effects of the technology. The effects that the bioethicists must study consist of society, future, religious, and many more. Some families are eager for the use of genetic engineering to be widespread so that they can eradicate fatal diseases or…

one of the most important breakthroughs in the history of biomedicine. CRISPR-Cas9 could prove instrumental in the discovery of cures for diseases and disorders that arise as a result of mutations in the DNA, such as sickle cell disease and beta thalassemia. Treating them could be as simple as identifying which gene on which chromosome has mutated – information that is already known, in many cases – and fashioning a CRISPR-Cas9 system that targets that gene and replaces it with a healthy,…

Sickle cell anemia is an autosomal recessive inherited disorder that affects red blood cells. The sickle cell gene inherited form both parents causes the production of structurally abnormal hemoglobin, clinical known as hemoglobin S, which cluster together, causing red blood cells to become rigid and develop a crescent shape. These sickled cells become trapped in small blood vessel and block them, reducing blood and oxygen flow in many parts of the body, and leading to tissue and organ damage.…