Wait a second!
More handpicked essays just for you.
More handpicked essays just for you.
Thalassemia essay
Don’t take our word for it - see why 10 million students trust us with their essay needs.
Recommended: Thalassemia essay
Topic: Thalassemia disorder
Thalassemia is an inherited co-dominant blood disease. It is characterized by reduced synthesis of the hemoglobin and less red blood in children affected by this disorder. Hemoglobin is the means through which red blood cells carry oxygen in our body. We need two forms of globin genes to make beta globin chains in our body, one from each globin gene. If one or two of these genes are defective, it produces beta thalassemia which is the less severe form of this disease. This disorder is a very common genetic disorder facing millions of people worldwide. People with mild Thalassemia usually do not need treatment. On the contrary, people who are severely affected will need regular blood transfusion. This form of the disease is common among people in the Mediterranean. This form can also be seen in North America and parts of Asia.
This disorder is caused by changes in the DNA of cells that make hemoglobin, the substance in human red blood cells that carries oxygen throughout your entire body. This disease is a inheritance disorder passed from parents to children. When parents have low count of hemoglobin and high could of red blood cell it is then transferred to their new born child.
There are various types of this disorder. It depends on gene factor relating to the child’s parents. The more altered genes, the more severe your condition. Hemoglobin particles are made of alpha and beta parts that can be affected by mutations. There are three major forms of this disorder that are categorized based on the severity of symptoms. They are minor, intermediate and major. Children with the minor or trait of the disorder do not experience any symptoms and may not require treatment. Children with the intermediate f...
... middle of paper ...
... spleen. When the patient spleen cell is removed, their bodies become susceptible to bacterial infections. Some patients with this disorder also experience bone deformities where the bone of the face and other parts of the body are affected.
Treatment option for the disorder includes; blood transfusion, which is done to replace the affected hemoglobin, Excess iron removal from the blood stream by administering folic acid to the patient, bone mirror transplant and sometime a surgery may be required
In a research conducted by the American Academy of Family Physicians, patients with this disorder trait have a normal life expectancy provided to live a health live style – health eating regular exercises. However, those with the more severe form of the disease (beta thalassemia major), on average live 17 years and generally die before their thirtieth birthday.
Dabah Bono
• Hemolytic disease of the newborn. Hemolytic disease happens when a mother 's disease fighting system (immune system) attacks her baby 's red blood cells. Proteins (antibodies) in the mother’s blood destroy the baby 's red blood cells. Two conditions can cause hemolytic disease:
Hereditary spherocytosis is a disorder in the membrane of a red blood cell that causes the red blood cell to be shaped like spheres, instead of flat discs (Wint Carmella). When red blood cells start out they are shaped like flat discs. Over time when passing through the spleen pieces of the membrane are removed, causing the red blood cells to become round in shape, hence the term Spherocytosis (Seattle Childrens). When red blood cells enter the spleen the cells undergo hemolysis. Hemolysis in hereditary spherocytosis results in the interplay of an intact spleen and an intrinsic membrane protein defect (Medscape). The breakdown of red blood cells is called hemolytic anemia (Wint Carmella). A normal red blood cell can live up to one hundred and twenty days. A red blood cell with the membrane defect might live ten to thirty days. When the child d...
The spleen is a fist-sized, spongy organ located behind the stomach (removed in this illustration), just under the diaphragm. Part of the lymphatic system, the spleen is composed of two types of tissue. White pulp produces lymphocytes, which release antibodies into the bloodstream to combat infection. More prominent is the red pulp, in which macrophages filter broken cells, parasites, bile pigments, and other useless substances from the blood. Iron from broken red blood cells is stored in the spleen for later use. Despite this variety of functions, an injured or diseased spleen can be removed in adults without great consequence.
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.
Albinism is a genetically linked disease and is presented at birth; it is characterized as a lack of pigment called melanin that normally gives color to a person’s skin, hair and eyes. This results in milky white hair and skin, and blue- gray eyes. Melanin is synthesized from amino acid called tyrosine, which originates from the enzyme tyrosinase. Albinism affects all races and both sexes; people with this disease have inherited a recessive, nonfunctional tyrosinase allele from both parents (Saladin 189). The inheritance of Albinism is coded in the gene of the parent’s alleles. Alleles are two different versions of the same gene or trait and are found on the same place of a chromosome. One allele is coded for the production of melanin that will produce normal skin, hair and eye color and another allele that represent the lack of melanin that produces abnormal skin, hair and eyes.
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.
The spleen, an organ on the left side of the abdomen across from the liver, is responsible for filtering the blood for infections and other abnormalities.
According to the details given in case study, Ms. A has iron deficiency anemia. Iron deficiency anemia is the most common type of anemia. It is a condition where the blood lacks enough red blood cells (Clark, 2008). When there are a low number of red blood cells, it makes transportation of oxygen to parts of the body very difficult. Iron deficiency is type of anemia due to the lack of iron in the body. Without the proper amount of iron in the body, it cannot produce enough hemoglobin and since hemoglobin is the main carrier of oxygen, low levels of it can lead to tiredness and shortness of breath (Copstead, Banasik, 2010).
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
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.
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.
Methemoglobinemia for the most part is easily treated, as long as it is diagnosed properly on time. Early diagnosis is necessary because high levels of methemoglobin in the blood can be lethal. To prevent patients and hospitals from costly unnecessary laboratory tests, a CO-oximeter should be present in the medical laboratory. Couples that are consanguineous and are considering having children should get genetic counseling. People, especially the elderly, the young, and the immunosuppressed, should be aware of certain chemicals or medications that can cause the acquired form of the disease. Early detection of methemoglobinemia is the key to a favorable outcome.
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.