Thalassemia Essays

1. Describe risk assessment in genetic counseling Genetic risk should be estimated as precisely as possible as it is an important component of genetic testing and counseling, and for family decision making. It is always good to take out extra information from pedigree charts and genetic testing as it can improve the accuracy of risk assessment drastically. The risk can be calculated using Bayesian analyses. Among populations, families or individuals within the same family have significantly different

Thalassemia is the most common inherited disorder in the world that represents a major public concern. It is characterized by a defect in the genes responsible for production of hemoglobin. Hemoglobin is a protein that consists of alpha and beta chains. If the genetic mutations prevent any formation of beta chains then beta-thalassemia occurs which involves abnormal development of red blood cells and eventually anemia (1, 2). Children born with thalassemia major are normal at birth, but develop

Beta thalassemia:- Beta thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body. In people with beta thalassemia, low levels of hemoglobin lead to a lack of oxygen in many parts of the body. Contents: 1) Introduction 2) Symptoms 3) History 4) Causes 5) Diagnosis 6) Treatment 7) Epidemiology 1) Introduction : Beta thalassemias (β thalassemias) are a group of inherited blood

Abstract: Thalassemia is among the commonest inherited disorders in developing and low-income countries. The cure is very costly and requires long-term management. The only way to solve this problem is by preventing more birth of thalassaemia major cases by a screening program. Accurate diagnosis of alpha-thalassemia requires DNA analysis, which cannot be applied effectively in underprivileged countries. Therefore, a simpler test should be used as a screening tool and the definitive cut-off level

cells and destroy them, which leads into anemia. Anemia of this type is a result of both type of disorder in the body, the first one is the ineffective erythropoiesis, and the second one is the short life span of the abnormal red cells. Table 1: Thalassemia genotypes and its

Genetic counselling ethical issues in management of hemoglobinopathies Q1 describe the risk assessment in genetic counselling A1. Hereditary counselling is essentially the most central angle that can help patients in different ways it not just covers the zones of fitting and right determination additionally administration and steady treatment. essentially a hereditary guide is a man who connects with the patient and assists them with comprehension the upsides and downsides of the issue that the

be responsible of the couple to take the genetic test because it will determine if their future children will be born with thalassemia. Thalassemia is a hereditary blood disorder in which the body makes an abnormal form of hemoglobin. The dilemma states that both parents are at risk for carrying the mutation which means that child will develop a serious form of thalassemia. Williams (2005) states that the complications of this genetic disorder can include chronic joint and muscle pain, iron overload

There are two varieties of α-Thalassemia: α+ and α0 Thalassemia. The Heterozygotes form of α+ Thalassemia (−α/αα) is deficient of one linked α-globin gene. It is also known as Thalassemia minima. It is clinically normal and has negligible effect on hemoglobin synthesis, whereas homozygotes (−α/−α) produce low level of hemoglobin in erythrocytes which leads to microcytic hypochromic anemia. When both linked α globin genes are absent (−−/αα), the homozygous α0 Thalassemia state (−−/−−) is lethal (Weatherall

Patients with anemia of chronic disease should be referred to specialists that treat the suspected underlying disease.  Treatments for thalassemias depend on the type and severity of the disease. In severe forms, the treatment of thalassemia includes iron chelation therapy, blood transfusions, and folic acid supplementation. In mild or asymptomatic forms, thalassemia needs no treatment. Mild cases can be managed by primary care providers and usually require a CBC every 3 to 4

Genetic testing is medical tests performed by every man and woman who’s premarital, and this to make sure that there is no genetic disease like Down Syndrome, Thalassemia, so these genetic diseases can be transmitted to sons. Parents should do the test to protect their children, and to have children in a good health not infected. Moreover, the test includes: medical history of the two families, and clinical, laboratory test for each of the betrothed. A factor that contributes to the spread of genetic

Gene therapy is now considered a new therapeutic area of study in modern medicine. Genes are special segments of DNA that provide the information to the body to properly function. It involves the transfer of genetic information into the tissues and organs of patients. As a result, it can be used to eliminate diseased genes or restore their normal functions. Another application of gene therapy involves the inclusion of different function to the cells, in order to either fight cancer or other diseases

Hemoglobin is made out of two alpha and two beta polypeptide chains and heme bunches; each containing a focal particle of iron. At the point when the iron is in the diminished shape and not appended to oxygen, the hemoglobin is called deoxyhemoglobin, or decreased hemoglobin; when it is connected to oxygen, it is called oxyhemoglobin. Deoxyhemoglobin joins with oxygen in the lungs (the stacking response) and breaks its bonds with oxygen in the tissue capillaries. A. Very still, the distinction in

that will lead to illness and disease. Preexisting conditions such as hemophilia, thalassemia, Tay-Sachs disease, spinal muscular atrophy, and Duchenne’s muscular dystrophy can all be treated by gene therapy. Tay-Sachs disease and spinal muscular atrophy both affect the brain and spinal nerves and neurons. Duchenne’s muscular dystrophy is a disorder where a person’s muscles degenerate. Hemophilia and thalassemia are both genetic blood disorders, which would be treated similarly to sickle cell anemia

Abstract Anemia has many different forms including iron deficiency anemia and sickle cell anemia. It all comes down to a lack in red blood cell count. This lack is very important because our bodies need oxygen to operate correctly. There are ways to prevent some types of anemia. It is good to know your family’s history because some types of anemia are passed down through the family. If the body has a lack of oxygen some very severe things may occur. These things include stroke and disruption in growth

Imagine a world, where people’s red blood cells couldn’t move through their blood tubes to supply oxygen. With sickle cell your blood cells aren't normally shaped, and they become hard. In addition, they should be more of a “donut” shape rather than a “crescent”. When the sickle cells approach the small blood tube, they begin clogging the flow, and breaking apart. In this situation, it causes pain, low blood count and lots of damage. But, what most people are wondering, is how you can get sickle

Genetic engineering in humans is a recent development that gives parents the option to design their idea of a perfect baby. The idea of “perfect babies” will lead to designer babies. The term designer babies refers to using biotechnology to choose what type of baby you want. The traits that can be changed in these babies are gender, appearance, intelligence, disease, and personality. Changing these traits can cause many problems and can affect society, the family, and the baby. Society could be affected

Imagine this: you are in a society where everyone looks, talks, and walks the same. Genetic engineering has evolved so far that you are identical to everyone else. But, suddenly an airborne virus starts spreading, slowly killing off everyone. Now the human race is extinct. Wouldn’t you think it would have been better for someone to be even a little different, so that the human race was able to live on? Doesn’t a society, where everything is identical, seem very dreary? Humans should value the ability

Hearing is one of the most crucial senses that all humans are designated to possessed, however in many cases, people are either born without it or lose it along the way. Throughout the years, scientists have been looking for treatments and cures for hearing impairment. A discovery has revealed that for cases of infants born deaf, there is a link between gene mutation and hearing loss. This discovery furthers the transition into the science of medicine and research, establishing a step for gene therapy

You may have anemia if the number of your red blood cells is few. Anemia indicates that your hemoglobin is low. Hemoglobin is a portion of red blood cell brings oxygen to the cells in your body. Regular levels of hemoglobin may be slightly different when it comes to the lab which the test will be done, age and sex. In grown-ups, doctors describe anemia as a hemoglobin of less than 12 grams per deciliter. But lots of people feel much the same unless their hemoglobin level goes under 11 grams per

Currently, this technique is applicable to thalassemia Huntington’s disease, cystic fibrosis and Duchene’s muscular dystrophy. An outlook medical use of genetic engineering is for gene therapy. Persons who are born with congenital disorder ensuing from a flawed gene could have a sound gene inserted