Taking a Look at Myelodysplasia Syndrome

This person's genotype involves a large translocation of genetic material from chromosome 22 to chromosome 9. The abnormally short chromosome 22 is called the Philadelphia chromosome. Patient 2 is significantly at risk for chronic myeloid leukemia, which is a disease linked specifically to this translocation. The swapping of DNA between the two chromosomes causes a formation of a new gene called BCR-ABL. This gene then allows for the production of the BCR-ABL protein, a tyrosine kinase. This protein causes the affected cells to divide out of control. This disease occurs 1.6 per 100,000 people in a

* According to the American Cancer Society (2013) states, “A risk factor is anything that affects your chance of getting a disease such as cancer” (American Cancer Society, 2013). “There are a few known risk factors for childhood leukemia” (American Cancer Society, 2013). According to the American Cancer Society (2013) states, “Genetic risk factors are those that are part of our DNA (the substance that makes up our genes)” (American Cancer Society, 2013). The genetic risk factor is what we get from our parents that is most of the time inherited (American Cancer Society, 2013). “Most cases of leukemia are not linked to any known genetic causes” (American Cancer Society, 2013).

People who have Myelodysplastic Syndrome may not experience symptoms at the beginning of the disease. However, there are three main signs that can develop and alert healthcare providers that something is wrong. One of these is a low red blood cell count, or Anemia. Most patients that have myelodysplastic syndromes exhibit this indicator when first diagnosed. A normal red blood count can vary between 4.0 and 6.1 million red blood cells per microliter of blood in the body, depending on the age and sex of the patient. A red blood cell count lower than normal is characteristic of Anemia (Cafasso, Jacquelyn, and Gotter). Not only is Anemia shown by constantly low hematocrit, but it can also be characterized by constantly low hemoglobin. A normal hemoglobin count is between 12.0 and 15.5 grams per deciliter of blood for females, and 13.5 to 17.5 grams per deciliter of blood for males. Levels lower than these show a low hemoglobin level (Mayo Clinic, Hemoglobin Test). Hemoglobin is the protein in blood that carries oxygen to the different tissues in the body.

Jacobs regards to his diagnosis, prognosis, and treatment options. I explained to Mr. Jacobs that myelodysplastic syndrome is a hematopoietic stem cell disorder characterized by dysplastic and an effective blood cell production within the bone marrow and puts the patient at variable risk for transformation to acute leukemia. I explained to him that this disorder may occurred the Novo will rise after potentially mutagenetic therapy or environmental exposure to toxins. Patient's with MDS have variable reduction in the production of red blood cells, platelets, and mature granulocytes. In addition, these formed elements sometimes exhibit qualitative functional defects. These quantitative and qualitative abnormalities often result in a variety of systemic consequences including anemia, bleeding, and increased risk for infection. I explained to him that the pathogenesis of MDS is incompletely understood. The patient has already undergone a bone marrow biopsy and aspiration which was consistent with a myelodysplastic syndrome with excess blasts and transformation. The patient has already started growth factor support. My plan moving forward is to start the patient on Vidaza, which is a antineoplastic agent, DNA methylation inhibitor. The plan will be to start the patient on 75 mg/m2 per day for five days of Vidaza and repeat the cycle every 28 days. It is possible that he may develop worsening of his peripheral blood counts with

There are 13,000 people diagnosed each year with Myelodysplastic syndrome in America. Robin Roberts is just one of those many people (American Cancer Society).

So Artificial ionizing radiation is one of the reasons and it's a type of energy released by atoms that travels in the form of electromagnetic waves or particles. Viruses which are infective agents. Benzene which is a colorless volatile liquid hydrocarbon present in coal tar and petroleum. Hair dyes like when you change the color of your hair. genetic predisposition. some studies researching family history and looking at twins have indicated that some people have a higher risk of developing leukemia because of a single gene or multiple genes. Down syndrome, experts say that people with down syndrome have a higher possibility of getting leukemia. “The last one is Electromagnetic energy, experts can't really prove that this is a cause, but they do say it is a slight

The term sickle cell infection (SCD) depicts a gathering of acquired red platelet issue." Normal red blood cells are shaped like discs or donuts. They are soft and flexible so they can easily move through very small blood vessels"(anonymous, 2015).Individuals with SCD have anomalous hemoglobin, called hemoglobin S or sickle hemoglobin, in their red platelets. Hemoglobin is a protein in red platelets that conveys oxygen all through the body. The most well-known sort is known as, sickle-cell frailty (SCA) and there is A few Types of Sickle Cell Sickness: Hemoglobin SS, Hemoglobin SC, Hemoglobin SD. In the Unified States, a great many people with sickle cell illness (SCD) are of African family line or recognize themselves as dark. About1 out of 13 African American children is

Myelodysplastic disorders (MDS) are conditions that happen when the blood-forming cells within the bone marrow are harmed. This harm prompts low quantities of one or more sorts of platelets. Myelodysplastic syndromes (MDS) are a group of diseases of the blood characterized by a defect in the bone marrow that produces abnormally or insufficient blood red, blood cells white and platelets. MDS is also called pre-leukemia because, over time, can develop into leukemia become acute and should not be confused with Myeloproliferative syndromes.

My Genetic Disease is Sickle-Cell disease. It is located on the Chromosome 11 at position 15.5 on the short arm. To get this genetic disease, your mom and dad have to be a carrier of the disease. This is also a mutation P (point mutation), which means there was a deletion inside the gene. This disease makes your red blood cells not be a normal shape. The red blood cell looks like a sickle from a protein called hemoglobin that carries oxygen. This makes it harder for your red blood cells to go through the veins of your body, which could cause health problems like stroke and heart attacks.

Dyskeratosis Congenita is an infrequent inherited bone marrow failure syndrome described by mucocutaneous abnormalities as nail dystrophy, hyperpigmentation, and leukoplakia. is an acute form of DC in BMF disease characterized by immunodeficiency, microcephaly, cerebellar hypoplasia, intrauterine increase retardation, and development retardation. Revesz syndrome also seem to be included in the DC spectrum that distinguished.

Myelopathy Gait Chronic spinal cord compression causes myelopathy. Myelopathy is when a person losses their equilibrium with pitiable synchronization, diminished dexterity of the hands, turgid limitation and detachment in a non-dermatomal configuration. The person will also annotation that they are maladroit and will often decline things. Some noticeable things would include the script has changed, how they button buttons, zip zippers ect.

Werner Syndrome is a premature aging disorder in which individuals appear much older than their actual age, exhibiting many characteristics of normal aging early on. Those affected develop normally until their adolescence, where many of the symptoms of the disease begin to emerge. It is an autosomal recessive disorder in which a mutation occurs on the Werner Syndrome RecQ Like Helicase (WRN) gene (Online https://rarediseases.org/rare-diseases/werner-syndrome accessed 30 October, 2016). There prevalence of this disease in less than 10/1,000,000, with higher occurrence among the Japanese population with a frequency of 1/50,000 (Ishikawa et al. 2000). The WRN gene is involved in DNA metabolic pathways such as DNA repair and also displays an important interaction with telomeres and the p53 protein. Thus, the mutation for this disorder produces genomic instability (Opresko et al. 2003). Common phenotypic characteristics of Werner Syndrome used to diagnose this disease include short stature with thin limbs, premature senescence, and endocrine disorders.

Sickle Cell Anemia or (SCD) is the most common genetic disorder across the entire world it is an inherited genetic condition giving to you by both your mother and father that affects your hemoglobin. There is a mutation in the gene that tells your body to make hemoglobin (a red iron rich compound that gives blood its red color). There are over 600 million hemoglobin molecules in each red blood cell (Brown, M. (2012)). The purpose of hemoglobin is allow red blood cells to carry carbon dioxide, and oxygen from your lungs to all parts of the body. People with sickle cell disease inherit the s gene from abnormal hemoglobin from both parents, you usually find out you have this disease at birth. A blood test is giving to all newborns to look for the s gene known as the sickle cell gene.

Shwachman Diamond Syndrome is a genetic condition that can affect the bone marrow, pancreas, and skeletal system. When the bone marrow is affected the natural function of producing new blood cells which is not working properly and cannot produce different white blood cells. People who have this disease make them more accessible to bodily infections which can affect bodily movements as well. According to extensive research there is a mutation on the SBDS gene that coincides with Shwachman Diamond Syndrome. Gene Therapy is an important experimental procedure in which genes are used to treat or prevent certain diseases. Doctors believe that this procedure will allow the insertion of genes to prevent disease. This gene technique can assist in preventing Shwachman Diamond Syndrome with the SBDS gene that has been identified as a mutation. This particular gene makes a protein that has an unknown function, but is active in building ribosomes. While researching this disease the importance to mankind is to prevent the amount of people affected and to be proactive in utilizing gene therapy to attack the disease from the source.

At least 20 metaphases were analyzed whenever possible. Clonal abnormalities were defined as two or more cells with the same chromosomal gain or structural rearrangement or at least three cells with the same chromosome deletion. Karyotypes were recorded according to the International System for Human Cytogenetic Nomenclature (ISCN) 2013.14