The blood line journey of gene therapy towards curing Beta Thalassemia By Irya Maran What is Beta Thalassemia? Is it contagious? Are we eating the cause of thalassemia? Do we have it in our family? Are you a carrier of Beta Thalassemia Beta thalassemia is placed under the group of inherited blood disorders that can be transferred from both the genes of parents into their children. Mutations in HBB gene (Haemoglobin subunit beta) provides the instructions to beta-globin which is a subunit haemoglobin consisting of 4 protein subunits. A lack of Beta-globin can lead to a reduction of Haemoglobin and by not having an enough Haemoglobin, blood cells won’t produce normally and cause a shortage of mature blood cells which can eventually lead Anemia …show more content…
What are the common symptoms of Beta Thalassemia? Beta Thalassemia can cause a variety of longterm and short term effects. 21 year old Hannah Husom was born with permanent yellow skin. She was always fatigue and carried a very low blood count. When Hannah was 7 years old, she was diagonsed with Beta Thalassemia major which effects the body’s ability to produce hemoglobin, that contains a protein to carry oxygen, resulting in Anemia. “It’s constantly being tired all the time. I can sleep for 11 hours and still be tired the next day, and then take a nap, and then be ready for bed 2 hours later”. - Hannah …show more content…
Imsub Monmessin, is a 22 year old student from Thailand who flew to America in order to go through gene therapy, in order to hopefully cure her inherited disorder of Beta Thalassemia. The therapy involved inserting a functional beta globin gene into a patient’s stem cells, which would alternate the cells outside of the body in order to reinsert the modified stem cells into the bloodstream, this is also known as “Autologous stem cell transplantation”. For the first 2 weeks, Imsub had to go through physical and other medical exams. Over 4 days, Imsub’s stem cells were collected and taken to a lab for another 5-6 weeks before getting her cells collected again for modification. In order to get the cells transplanted, Imsub was required to stay at the hospital for 40 days, 9 months in America with the therapy. As you see, there are a variety of therapies avaliable to prevent Beta thalassemia, despite how long processes may
• Jaundice. This is yellowing of the skin and eyes. In a newborn, jaundice is usually caused by a buildup of waste products in the blood due to the breakdown of red blood cells that the baby cannot get rid of fast
... school work to do on a daily basis, so this causes them to stay up late and not get the right amount of sleep.
The research done on these cells made miraculous changes to science and the public health field however, the want to pursue this research even further, doing whatever was necessary, left the Lacks family in the dark and not knowing who they could trust.
Hemochromatosis is a disease which makes your body absorb all of the iron in food, instead of regulating iron intake. Hemochromatosis “attacks” the entire body, especially the places where most of the iron normally goes: the bloodstream and liver. Some symptoms of this disease are bone and joint discomfort, liver problems, irregular heartbeat, and an unusual bronzing of the skin. Armand Trousseau first described it in 1865 as Diabetes bronze, due to people with diabetes showing the bronze-skin symptom. It was thought to be quite rare at the time. About “⅓ or ¼ of people of Western European descent have th...
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.
Sickle cell anemia is a blood disorder that affects hemoglobin (pronounced: hee-muh-glow-bin), a protein found in red blood cells that helps carry oxygen throughout the body.
In September 14, 1990, an operation, which is called gene therapy, was performed successfully at the National Institutes of Health in the United States. The operation was only a temporary success because many problems have emerged since then. Gene therapy is a remedy that introduces genes to target cells and replaces defective genes in order to cure the diseases which cannot be cured by traditional medicines. Although gene therapy gives someone who is born with a genetic disease or who suffers cancer a permanent chance of being cured, it is high-risk and sometimes unethical because the failure rate is extremely high and issues like how “good” and “bad” uses of gene therapy can be distinguished still haven’t been answered satisfactorily.
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.
...ave. They have been through a lot by people asking over and over about the HeLa cells. I think the least the doctors could do is tell them the actual truth about how they used those cells and stop making them guess or always wonder. I think they should have told them when they come to get the blood what they were actually using it for. They may not have understood, but the least they could do is tell them. They could have told them they wasn’t taking their blood to see if they had cancer they should have told them they were taking it for the HeLa cells. I think it was a good thing when I found out that Gey was actually doing research on the cells and not actually trying to get money. I thought this whole time he was probably getting money from it. I think when he was doing his research he was actually trying to help people, not put the Lack’s family through so much.
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.
Methemoglobinemia is an uncommon but possible reason for cyanosis. Methemoglobinemia is significant because the disease is fairly rare and consequently most physicians do not consider it as a cause when diagnosing a patient with cyanosis. Regrettably, patients often get misdiagnosed and sometimes treated for the wrong disorder as a result. A two fold dilemma occurs when the patient is treated for an incorrect disorder. The first part of the dilemma includes the patient experiencing all of the negative side effects of the wrong treatment, and gaining no benefit. The second part of the dilemma is that the patient’s actual medical condition is not being treated, and is getting worse with time. The higher the level of methemoglobin in the blood the higher the patient’s chances of dying are. Another thing for doctors to acknowledge is when methemoglobinemia is not considered a valid diagnosis; numerous unnecessary laboratory tests are performed. When unneeded laboratory tests are performed the medical laboratory technologist’s time is wasted when they could be running another patient’s samples. Also running unnecessary laboratory tests costs a great deal of money. During the analysis of cyanosis, physicians should consider methemoglobinemia as a valid diagnosis.
High profile adverse events resulting in disproportionate media attention have prevented a greater difficulty for the field, with the death of Jesse Gelsinger in a trial of gene therapy for ornithine transcarbamylase deficiency undermining public trust of clinical research in the US. There is a danger that the gene therapy field may have become too risk-averse in response to these adverse events, and that this could manifest as fewer trials that take longer to commence. In the context of a research environment that is increasingly turning to the developing world for the expedient conduct of clinical trials, it is imper...
Fifty six percent of students report being tired throughout the school day, which can lead to missed information and confusion (Wysong). According to this statistic, over half the students in class are not going to achieve their maximum learning potential in school. In order to avoid this problem, a teenager's brain typically needs to sleep from 11:00 pm to 8:00 am (“High schools starting later to help sleepy teens”). However, most high schools require students to be in class as early as 7:15 or 7:30 am. As a result, many adolescents simply do not have the opportunity to get enough rest. Changing the traditional school time to start later in the day will benefit adolescent sleep cycles, promote learning, and prevent disease by regulating the body. Ideally,...
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.
There are several different types of anaemia with different symptoms and effects on the human body most of them have very similar impacts on health. Some people inherit the disorder whilst some grow into it. It can be diagnosed at the age of two or during the younger years in a humans life. The causes of this disorder begin with during pregnancy. Some of the common types of anaemia is: