These two are affected by beta thalassemia. This disease is common in people that are from African, Mediterranean, Asian and Middle Eastern descent. According to the DNA Learning Center, thalassemia is the most common genetic disorder in the world with its sub division of Beta Thalassemia being most common due to the more than 250 mutations possible in the hemoglobin beta chains that have been shown to result in causing Beta Thalassemia.
Beta Thalassemia is an inherited disorder of at least one of the beta chains located on chromosome #11. Two alpha and two beta chains make up the bulk of the oxygen carrying ability of hemoglobin. The expressions of the disorder result in three different types of Beta Thalassemia with symptoms can range from iron overload to mild anemia. The three different types from highest severity to lowest are Beta Thalassemia major or Cooley’s anemia, Beta Thalassemia intermedia, and Beta Thalassemia minor. Cooley’s anemia from being a homozygous recipient of the Beta Thalassemia trait. This form can start showing effects around the third month to one year range. Beta Thalassemia intermedia is a form caused by minor mutations in the gene for beta chains. As a result of this, symptoms are milder than the symptoms of Cooley’s anemia as there more functioning hemoglobin than Cooley’s anemia patients but not as much as people without Beta Thalassemia. Beta Thalassemia minor patients can experience mild anemia but most are asymptomatic.
The most prominent way to diagnose Beta Thalassemia is with one of the three different kinds of blood tests which are the complete blood count, reticulyote count, and a prenatal blood test. The complete blood test measures the quantity, size, number, maturity, and hemoglobin amou...
... middle of paper ...
...tained from the H2 Automatic Counter. A clinical Retrospective study.”
(Insert 2 clinical trials)
There are some foundations such as the Cooley’s Anemia Foundation, Thalassemia International Foundation, and the National Heart Lung and Blood Institute are not satisfied with what has been accomplished so far and are looking for ways to improve the status quo. (Insert more on three foundations)
The future does look bright on the treatment for Beta Thalassemia with people helping people get past the obstacles that exist due to the disease. Gene therapy provides the best opportunity for the cure and treatment of Beta Thalassemia The ultimate goal of the treatment is having the ability to put stem cells into hematopoiesis functions as new blood cell formation mechanisms to correct the defects that are associated with Beta Thalassemia. . (Insert more on future treatment)
Vitamin B12 deficiency limits selenium methylation and excretion resulting in higher tissue selenium levels and subsequent toxicity. It occurs in people whose digestive systems do not adequately absorb the vitamin from the foods they eat. Vegetarians who eat eggs and milk products are the most at risk because, on average, they consume less than half the adult vitamin B12 Recommended Dietary Allowance (RDA) while strict vegans (who don't eat any animal products, including meat, eggs, or milk) are at an even greater risk. Vitamin B12 is important since it works with the vitamin folate to make the body’s genetic material and help keep levels of the amino acid homocysteine in check which helps to decrease heart disease risk. It is also essential in the production of red blood cells which carry oxygen through the blood to the body’s tissues. Life Extension gives offers some of selenium supplements. Babies who are born of parents with low selenium and vitamin B12 rich foods are at risk of anaemia.
· genetics: occasionally the disease has a tendency to run in certain families (inherited or genetic predisposition), but this is not common.
Cystic fibrosis is one of the most common lethal mutations in humans. The autosomal recessive allele is carried by 1/20 Caucasians, 1/400 couples will have children with the disease, and ¼ children will be afflicted. If untreated, 95% of affected ch ildren will die before age five (Bell, 1996).
Tay-sachs has infected millions of people since its discovery. The most common groups affected by Tay-sachs are Eastern and Central European Jews,some French-Canadians, the Irish, and some groups of Cajuns. The general carrier ratio for TSD is 1:250, or 0.4%.
Chronic illness can be very difficult to manage. Cystic fibrosis is the most common life-limiting autosomal (not sex-linked) recessive disease among Caucasian heritage. Although technically a rare disease, it is ranked as one of the most wide spread life-shortening genetic diseases. It is most common among nations in the Western world minus the exception of Finland but it is equally diagnosed between male and female.
It was in the 1980’s that scientist began looking at alternative ways of treatments, one is gene therapy. Scientist would insert human genes into a bacteria cell. Then the bacteria cell would transcribe and translate the information into a protein. Once that is done the scientist would then introduce the protein into human cells. Gene therapy can be simply viewed as inserting bits of foreign DNA into a patient’s tissue in hope...
Lewis, Ricki, (2014), Human Genetics, 11th Edition, Chapter 12. Gene Mutation. [VitalSource Bookshelf Online]. Retrieved from
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.
Gene therapy gives people who suffer from genetic diseases a chance to lead a normal life. Dangerous diseases, such as AIDS, SCID, Thalassemia and ADA can be cured successfully. In September 5, 2006, two people with advanced melanoma received Gene therapy and they got recovery soon. This is a breakthrough in cancer gene therapy. Gene therapy uses patients own cells to cure diseases, and, therefore, no rejection to their bodies. Furthermore, patients could get permanent cure from gene therapy without recurrence.
The most common forms of the differing Thalassemias are Alpha-Thalassemia and Beta-Thalassemia. Thalassemia is also commonly known by Cooley's anemia and Mediterranean anemia. Alpha Thalassemia is when genes related to the alpha globin protein are altered or missing, which is known as gene mutation. Alpha Thalassemia is primarily dominant in people from Africa, Middle East, Southeast Asia, and China. Alpha Thalassemia has 5 subtypes while Beta Thalassemia has 3 main subtypes. Beta Thalassemia exists when defected genes alter production of the beta globin protein. Beta Thalassemia is prominent in people from the Mediterranean region, Italy, Middle East, Greece, Southeast Asia, Africa, and Southern China. However, Alpha and Beta Thalassemia both have a major and minor form of...
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.
... away [5]. Something for laboratory managers and supervisors to consider is to have a CO-oximeter in the laboratory, since it can measure and distinguish between 4 different types of hemoglobin [13].
Gene therapy enables patients to survive incurable diseases. In the field of genetic diseases, ADA-SCID, CGD and hemophilia are three main ones. ADA-SCID is known as the bubble boy disease. CGD is related to immune system that would lead to fungal infections which are fatal. Patients with Hemophilia are not able to induce bold bleeding (Gene therapy for diseases, 2011). Gene therapy also has good effects on cancer treatment and neurodegenerative diseases, which include Parkinson’s disease and Huntington’s disease. Viral infections, including influenza, HIV and hepatitis can also be treats by it (Gene therapy for diseases, 2011). According to the Science Daily in 2011, gene therapy now can apply to heart failures and neurologic diseases as well.
For almost all types of Albinism both parents or mates must carry an albinism gene in order for their child to have albinism. Because the body has two sets of genes, a person may have normal pigmentation but carry the albinism gene. If a person has one normal gene and one albinism gene that is still enough to pass the disease on to their children. Even if both parents have the albinism gene it does not mean they have the sickness. The baby will have a one out of four chance of getting the disease. This is inherited by autosomal recessive inheritance.
The second one is beta thalassemia. This occurs when similar gene defects affect production of the beta globin protein. It happens mostly in people of Mediterranean origin, Chinese, other Asians, and African Americans. You need both alpha- and beta-globin to make hemoglobin. If you have one damaged gene, you may have mild anemia and probably won't need treatment. This is called beta thalassemia minor or beta thalassemia trait. It happens when you get a normal gene from one parent and a thalassemia gene from the other. When both genes are damaged, it means you got a thalassemia gene from each parent. You may have moderate or severe anemia. If you have moderate anemia, you may n...