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.
Thalassemia also known as Cooley’s anemia (Catlin 2003) was originally described by Thomas Cooley in 1925 (Starr 2012). The name Thalassemia came from the Greek name for sea (thalassa). This was due to the fact that for many years, those who had been most affected lived in the vicinity of the Mediterranean Sea (Starr 2012). Beta thalassemia occurs most frequently in people from Mediterranean countries, North Africa, the Middle East, India, Central Asia, and Southeast Asia. Thalassemia is a genetic blood disorder that is inherited from parents. The absence or reduction in the production of hemoglobin is the cause of thalassemia. Hemoglobin is in the red blood cells, it is a protein that carries oxygen to cells throughout the body (Catlin 2011)). Thalassemia is characterized by quantitative defects in the synthesis of either the alpha hemoglobin for Alpha Thalassemia or the beta hemoglobin for Beta Thalassemia (Starr, 2012). It is not widely known how many people are affected by Thalassemia but the US populatio...
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...toms of schizophrenia because it was not passed down to my father, so the percentage for me or my siblings goes down (Giusti-Rodríguez, P., & Sullivan, F.P 2013).
In conclusion beta Thalassemia sometimes known as Cooley’s anemia is the most prevalent form of Thalassemia with three subcategories ranging from mild to major. Thalassemia is a co-inherited disease coming from both parents. The cause of beta thalassemia is the mutation of the beta haemoglobin for Beta Thalassemia. Thalassemia causes the absence or reduction in the production of hemoglobin. Researchers have found numerous of mutations in the genetics of thalassemia. Though thalassemia is a common genetic blood disorder it is possible to live through thalassemia, a person who is a carrier for thalassemia shows little to no symptoms and can live their life without having to have any treatment done on them.
"Schizophrenia." NIMH RSS. U.S. Department of Health and Human Services., n.d. Web. 28 Apr. 2014.
Addison’s disease is a disorder of the endocrine system. It is a hormonal disorder that can strike anyone, any gender at any age. Addison’s disease has also been called Adrenal Insufficiency (hypocortisolism) because the root of the disease is in the adrenal gland not producing enough of the hormone cortisol, or sometimes not enough of the hormone aldosterone to satisfy the body’s needs.
Thalassemia is an inherited blood disorder characterized by low amounts of hemoglobin and a low count of erythrocytes in the body. Thalassemia is caused by mutations in the deoxyribonucleic acid of cells, which makes hemoglobin. The mutations are passed from parent to child. The mutations vary depending on the type of Thalassemia inherited. The variation in the mutation occurs from the number of gene mutations, which are inherited, as well as mutation within the hemoglobin molecule. Clinical manifestations are diverse ranging from asymptomatic, to those who are carriers of the thalassemia, which may have mild symptoms, there also people who posses the trait, who may have severe symptoms which lead to death.
Sickle cell anemia is a disease that has to be inherited from both parents. Both parents have sickle cell trait, which means each parent has sickle hemoglobin and normal hemoglobin. So people with the sickle cell trait can pass the sickle cell gene to their children. Most families that come from Africa, South Central, and Central America are more common with sickle cell anemia. According to National Heart, Lung and Blood, it’s estimated that the sickle cell disease has affected 70,000-100,000 people mainly African Americans (National Institute of Health, 2012). Hispanic Americans also are common to having sickle cell anemia. According to National heart, Lung, and Blood Institute, statistics shows sickle cell anemia occurs in about 1 out of every 500 African American births and 1 out of 36,000 Hispanic American births (National Institute of Health, 2012). Signs of sickle cell anemia don’t show until after 4 months of age. Sickle cell anemia begins from ...
National Library of Medicine, National Institute of Health. Schizophrenia. 31 Jan 2013. Web. 15 May 2014
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.
Sickle Cell is a disease that affects many people in the world today. It is the number one genetic disorder in the United States. Sickle Cell is deficient hemoglobin. Hemoglobin is what functions in providing oxygen to the cells in the body. The sickle shape comes from the atypical hemoglobin s molecules. Hemoglobin molecules are composed of two different parts called the alpha and beta. The beta subunit of the hemoglobin molecule has a mutation in gene, on chromosome 11 which produces the change in the red blood cell shape causing them to die and not reproduce accurately. The change in shape causes the red blood cells to get stuck in the blood vessels and block the effectiveness of oxygen transport causing pain and organ damage to the body. This disease does not have a cure and some common treatments are used to help patients live with the disease. Some treatment options are antibiotics (penicillin) to prevent infections, blood transfusions, folic acid that help produces new blood cells. These are just some of the current treatments for Sickle Cell.
The problem is that sickle cell anemia affects about 72,000 Americans in the United States. Sickle cell anemia is an inherited disease in which the body is unable to produce normal hemoglobin, an iron-containing protein. Abnormal hemoglobin can morph cells that can become lodged in narrow blood vessels, blocking oxygen from reaching organs and tissues. The effects of sickle cell anemia are bouts of extreme pain, infectious, fever, jaundice, stroke, slow growth, organ, and failure.
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...
This causes the cells to take on an unusual “S” shape, therefore being named sickle-cell. The individual that expresses the disease must inherit two abnormal copies of the gene for haemoglobin from each parent, whereas carriers contain only one abnormal copy and do not show any symptoms. The defective gene is affected by a single base mutation of the β-globin gene, which replaces glutamic acid with valine at the sixth base. This then creates the alternative protein haemoglobin S, while the normal result would be haemoglobin A. Focusing on the amino acid sequence itself, the event that unfolds is switching from a normal GAG codon to a GTG, and subsequently, alternative transcription by a GUG codon. Since the cells assume a peculiar sickle-like appearance and are characterised by considerable loss of elasticity, this causes difficulties in their movement through blood vessels, where they often get stuck due to their modified cellular characteristic. This blocks regular blood flow, terminally causing hypoxia (lack of adequate oxygen supply) in the affected individual due to vessel obstruction and inevitable ischemia (lack of blood flow). Furthermore, this mutation does not only negatively affect the individual but also inevitably raises the chance of passing along the
At some point a human might have a relative, or heard of someone, or even experienced itself of suffering from Schizophrenia. Schizophrenia is a serious mental illness that affects many humans throughout the world. People living with this mental disorder may depend on a family member or someone close to take care of him/her. Certain individuals have a good chance of inheriting schizophrenia if a family member appears to show a history of this mental disorder. Unlike others can develop this psychotic disorder while growing up. For instance, a young woman or man may begin to show some signs or symptoms within his/her teen years. Well unfortunately, I have a brother who inherited Schizophrenia and it is extremely difficult to cope with him at certain times.
A patient with sickle cell has inherited the condition from both parents, and it all starts in the hemoglobin. Hemoglobin is “an iron-containing protein in red blood cells that reversibly binds to oxygen” (Reece, Urry, Cain, Wasserman, Minorsky, & Jackson, 2011). Obviously, hemoglobin is an important substance for oxygen to be transported in red blood cells. However, a patient with sickle cell has irregular hemoglobin cause by inherited genes. This “oxygen delivery” system cannot function properly because a gene
Albinism is a very serious disease that could end up in death. Albinism is a recessive inherited defect in melanin, which is metabolism in which pigment is absent from skin, hair, and eyes. Albinism in hair, skin, and eyes is called oculocutaneous albinism. Humans that have oculocotaneous albinism are not able to produce melanin. These people have white, yellow, or yellow brown hair, very light ( usually blue ) eyes, and very pale skin. Their eyes may appear pink because they have very little pigment.
which in humans is encoded by the F ANCA gene, mutations in which are the most
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.