A Brief Note On Diamond Blackfan Anemia ( Dba ) Is A Rare Genetic Disease Essay

Sickle Cell Anemia is an inherited form of anemia, a condition in which there isn’t enough healthy red blood cells to carry sufficient oxygen throughout your body. Normally a person has flexible and round blood cells. With Sickle Cell anemia, Hemoglobin molecules in red blood cells, that carry oxygen in the body, are defective causing some of the red blood cells to change and form a sickle, or crescent moon shape.

Sickle cell anemia (SCA) is an inherited disorder that produces sickle or crescent shape red blood cells. Thus, the mutated erythrocytes result in an inadequate supply of oxygen being transported throughout the body. Research shows that among those affected the most with the sickle cell gene are African Americans. In recent years, we have seen a decrease in mortality and morbidity rates as a result of new approaches to treating the disease. The more we understand the pathophysiology of sickle cell anemia, the more we learn about developing therapies for genetic disorders such as SCA. In this paper, we will briefly discuss what sickle cell anemia is and possible treatments for people with sickle cell anemia such as gene therapy and new drugs.

The past century has seen a significant increase in diversity across the United States. Approximately 36% of the population belongs to an ethnic or racial minority group according to the most recent census information. For the majority of the American population, infant mortality has been reduced and life expectancy has significantly increased. Health indicators such as these show improvement but minorities still continue to experience a disproportionate burden of death, disability, preventable disease, access to care, and treatment options. The disparities become even more pronounced when looking at awareness and treatment for particular diseases that are specific to a minority group. Sickle

Congenital dyserythropoietic anemia is a blood disorder r that is inherited and it is also present at birth. Congenital dyserythropoietic anemia is just one of the many types of anemia, which are conditions that affect the red blood cells. When a person has anemia they have a shortage of RBC’s. Red blood cells are important in maintaining homeostasis in the body. The main functions of the red blood cells are to transport oxygenated blood to the tissues of the body. With that being said, when people suffer from anemia do not get the adequate amount of oxygen to the tissues of their body. The symptoms of anemia vary from person to person, some experience weakness, while other are more fatigued (www.ghr.nih.gov). Other symptoms include pale skin, chest pains and tachycardia or fast or irregular heart rate/ beat.

Jorde, L. B., Bamshad, M. J., White, R. L. and John C. Carey MD MPH Dr. (2006) Medical genetics updated edition for 2006 – 2007. 3rd edn. United States: Mosby.

Sickle Cell Disease is a genetic disease caused by a SNP (Single Nucleotide Polymorphism). Which means it is caused by a single letter gene mutation. Through the advent of CRISPR/Cas9 the disease might be cured. It is a serious reality and will enter medical trials within a handful of years. Sickle Cell Disease is an inherited disease that predominantly affects people of African descent. Red Blood cells become rigid and sickle shaped, causing blockages and pain crises. In cases of Sickle Cell Disease the Beta-Globin are mutated causing faulty and deformed Hemoglobin proteins thus creating sickled and short-lived Red Blood Cells.

There was a ratio of 4:1 male-to female for the development of the disease. Important to note was that it was reported that the authors cannot give any real explanation for the male preponderance. More specifically, genetic analysis showed the patient to be heterozygous and have a single-nucleotide mutation at codon 41A>G. This mutation resulted the amino acid asparagine to be switched out with serine. Furthermore, according to a few prediction programs noted within the article it was shown that this substitution of serine could prove damaging. In more detail, the aberrant splicing mentioned before was shown to cause an 8 base pair long deletion within the shwachman-diamond-bodian syndrome gene.

Myelodysplasia syndrome (MDS), is a type of disease that is associated with abnormal cells in the blood and bone marrow. Patients with the disease commonly have immature stem cells which result in unhealthy progenies such as platelets, red and white blood cells. There are different types of MDS, which are analyzed by certain changes in the blood or bone marrow. MDS can be more commonly found in Men in their 60’s seeing how the chances of myelodysplasia syndrome increases with age. Genetics also play a role in the occurrence of MDS. It can be passed down from parents to offspring that have certain mutated genes. People with Down syndrome, Fanconi anemia, Shwachman-Diamond, and Kostmann syndrome have an increased chance of developing this disease [1].

For over a century following Armand Trousseau’s first description of the disease in 1865, many held the misconception that hemochromatosis was extremely rare. That is, until the primary gene that caused the

Ribosomes are they key function to making proteins, and we make a lot of them. Some of you were mudslinging us, which is understandable, but you said ribosomes cause diseases. So we went out and found a disease that ribosomes cause. Ribosomes can cause Diamond Blackfan Anemia. Diamond Blackfan Anemia or DBA is a rare blood disorder. In DBA, the bone marrow which is the center of the bone where blood cells are made, does not make enough red blood cells that carry oxygen throughout the body. It is passed down from genetic causes. According to the DBA Foundation many patients are diagnosed within their first year of life and can still live normal lives when given proper medical treatments. Also if you have DBA your children have a

The processing included utilising gene therapy to correct the SNP. As mice infected with humanised SCA live for only around 18 months, the untreated mice, which had mutations in both genes, all died; those that had the injections all survived. The results of this study showed that the injected mice had decreased symptoms of SCA, proportionate to that of the control mice, which had only one mutated gene. A second study employed the use of two transgenic mice models and found that, although one model worked markedly better, both gene therapies decreased the level of Hb S and increased Hb level. The researchers altered a βA-globin gene, via an SNP, and placed it within lentiviruses to administer it to the test mice. This led to a general decrease in the number of sickled RBCs within the treated mice. The results from this study also showed that the treated mice had levels of Hb equal to those of

Hereditary Hemochromatosis is a genetic disorder found on the HFE protein and has been found to alter the body’s capability to manage the absorption of iron. Hemochromatosis originates from the Latin terms Hemo- (blood) + chromo- (color) + -osis (disease or abnormal increase). Hemochromatosis can have early signs and symptoms. These may include one to suffer from joint pain, abdominal pain, show signs of weight loss and potentially show a reduction in sexual desire. Other signs and symptoms, which usually occur in the late onset stages, may include diabetes, arthritis, and potential risk of having or having liver disease and heart complications. In relation, emergence and advancement of these signs and symptoms in an individual can be affected by epigenetic factors such as environmental factors that play a key role in switching genes on and off. Hereditary Hemochromatosis can be classified into 4-type’s correlating with when the age of onset occurs or how it’s inherited. The first type, or type-1, is the most common of the forms in Hereditary Hemochromatosis. In relation to type-4, both type-1 and 4 have

This case called beta thalassaemia intermedia where the two genes are defective is almost the same as the last one,but here the production of beta chains is only moderately reduced.

Not all chromosomic conditions have a high incidence rate as DS. Those less - known genetic disorders require a robust study by the clinicians to first understand the syndrome and then generate an individualized service plan. Among those conditions, we

The pathophysiological mechanisms are currently unknown, however it is believed that mutations in ribosomal proteins disrupt ribosome biogenesis, leading to red cell aplasia.1,2 Defective ribosome biogenesis is believed to lead to p53 activation which may cause apoptosis and cell cycle