Disorders passed from parents to children and inherited from generation to generation are called, “genetic disorders or diseases” (NIH, 2013). Thalassemia the focus of this paper is one such disorder. This disorder is linked to red blood cell abnormalities. A normal red blood cell delivers life-sustaining oxygen to every part of a human body, it also removes harmful gaseous waste product from the body by way of exhilaration. Hemoglobin, an iron-rich protein is a component of the red bloods cell which enable it perform its’ functions effectively (NIH, 2013).
What are Thalassemias?
Thalassemias are a group of blood disorders children inherit from their parents through genes. The body of a person with thalassemia will produce fewer red blood cells that are healthy with less hemoglobin than that of a person without this condition (National Heart, Lung, and Blood Institute, 2013). When a person’s body produces red blood cell below normal, or less hemoglobin, a condition called anemia develops. NIH (2013) further states that, people with gene disorder of Thalassemia can present with mild, moderate, or severe anemia.
Causes
Thalassemia occurs when genes that controls the way the body produce hemoglobin are absent or altered (NIH, 2013). The human body makes red blood cells, white blood cell, and platelets. As earlier mentioned, red blood cell contain hemoglobin. Hemoglobin’s carry two different types of protein chains: the alpha globin and beta globin. The body of a person with Thalassemia will not function well due to inadequate or abnormal production of alpha or beta protein chain which in turn, affects red blood cells performance of their functions.
National Heart, Lung and Blood Institute (2013) ex...
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Medical News Today (2014, July 17). What Is Thalassemia? What Causes Thalassemia? - Medical News Today. Retrieved February 3, 2014, from http://www.medicalnewstoday.com/articles/263489.php
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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.
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Sickle-cell anemia is a genetic disorder that makes your body produce red blood cells that are abnormal in shape. This disease is also widely known as hemoglobin SS disease. Unlike normal red blood cells, sickle cells are rigid and tenacious. Due to their shape and rigidness, they can block blood flow. In turn, this could cause organ damage to the body. Sickle cells are also fragile and die very easily due to the fact sickle cells have a lifespan of twenty days instead of the normal one hundred and twenty days for normal red blood cells.This causes the body to have a lower blood cell count, hence the name anemia in sickle cell anemia.
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...
Sickle cell anemia is an inherited disease of red blood cells. Normally red blood cells contain a protein called hemoglobin A, which carries oxygen to all the organs in the body. With sickle cell anemia, however, the body makes a different kind of protein, called hemoglobin S.
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
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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.
Thalassemia is basically a name for similar groups of inherited blood diseases that involve missing or abnormal genes regarding the protein in hemoglobin which is the red blood cells that carry oxygen throughout the body. I will discuss the different types of Thalassemia, how Thalassemia is diagnosed, and the treatments available. I will also discuss the complications and side effects of the treatments, the disease’s causes and effects, and how it is more dominant in some parts of the world than others. Thalassemia is a blood disorder which means the body makes fewer healthy red blood cells and less hemoglobin. Hemoglobin is a protein that carries oxygen throughout the body and having less hemoglobin leads to anemia. Alpha globin and beta globin are the proteins that create Hemoglobin. A defect in the gene that helps control production of alpha or beta goblin leads to Thalassemia. Fewer blood cells leads to anemia, which is the common culprit in Thalassemia.
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Thalassemia is a blood disorder transferred through families. It occurs when the body makes less hemoglobin than needed or an unusual form of hemoglobin. Hemoglobin is the protein in red blood cells that carry oxygen. The disorder makes an excessive amount of destruction of red blood cells. This eventually leads to anemia.