THALASSEMIA Waseem卧希姆。08301016028 Introduction Thalassemia is an inherited blood disorder. which results in a decreased ability of red blood cells to carry oxy gen. In thalassemia, a specific oxygen carrying protein, hemoglobin, is deformed. A hemoglobin molecule consists of four chains: two upper chains, called alpha chains, and two lower chains, called beta chains. In thalassemia, the genes which code for the hemoglobin chains, are either mutated or deleted, resulting in incomplete hemoglobin molecule. Thalassemia is an autosomal recessive trait. If both parents are carriers, the child has a 50% chance of inheriting one thalassemia gene and becoming a carrier, a 25% chance of inheriting two genes and develop ing severe form of disease and a 25% chance of inheriting two healthy genes. Currently, thalassem ia is considered the most frequent single gene disorder in humans. It is estimated that approximately 5% of all humans are heterozy gous carriers of thalassemia gene. Estimated 60 million indiv iduals worldwide are homozy gous for thalassem and have symptoms of moderate to severe disease. Found most frequently in the Mediterranean north Africa. Middle east. East Asia and southeast asia Method The cause of thalassemia is defects in the genes that make hemoglobin. The only way to get thalassemia is to inherit one or more defective hemoglobin genes from your parents Hemoglobin is a red, iron-rich protein found in red blood cells. Hemoglobin enables red blood cells to carry oxygen from your lungs to all parts of your body and to carry carbon dioxide from other parts of your body to your lungs so that it can be exhaled. Most blood cells, including red blood cells, are produced regularly in your bone marrow-a red, spongy material found within the cavities of many of your large bones. Thalassemia disrupts the normal production of hemoglobin and leads to a low level of hemoglobin and a high rate of red blood cell destruction, causing anemia. When you're anemic, your blood doesn, t have enough red blood cells to carry oxygen to your tissues- leaving you fatigued And to understand that you must know the hemoglobin structure which each content:(Four globular protein subunits. Two Alpha globin and two Beta globin- Iron(Fe)-Heme DISCUSSION People whose hemoglobin does not produce enough alpha protein have alpha thalassemia. Four genes are involved in making the alpha hemoglobin chain. You get two from each of your parents If one or more of the alpha hemoglobin genes are defective, you develop alpha-thalassemia. The more defective genes you have, the more severe your alpha thalassemia One gene: If you have only one missing gene, you're a silent carrier and won't have any signs of illness Two gene: If you have two missing genes, you have alpha thalassemia trait (also called alpha thalassemia minor). You may have mild anemia
Thalassemia Waseem 卧希姆 。 08301016028 Introduction : Thalassemia is an inherited blood disorder, which results in a decreased ability of red blood cells to carry oxygen. In thalassemia, a specific oxygen carrying protein, hemoglobin, is deformed. A hemoglobin molecule consists of four chains: two upper chains, called alpha chains, and two lower chains, called beta chains. In thalassemia, the genes which code for the hemoglobin chains, are either mutated or deleted, resulting in incomplete hemoglobin molecule. Thalassemia is an autosomal recessive trait. If both parents are carriers, the child has a 50% chance of inheriting one thalassemia gene and becoming a carrier, a 25% chance of inheriting two genes and developing severe form of disease and a 25% chance of inheriting two healthy genes. Currently, thalassemia is considered the most frequent single gene disorder in humans. It is estimated that approximately 5% of all humans are heterozygous carriers of thalassemia gene. Estimated 60 million individuals worldwide are homozygous for thalassemia and have symptoms of moderate to severe disease. Found most frequently in the Mediterranean , north Africa , Middle east , East Asia and southeast Asia . Method : The cause of thalassemia is defects in the genes that make hemoglobin. The only way to get thalassemia is to inherit one or more defective hemoglobin genes from your parents. Hemoglobin is a red, iron-rich protein found in red blood cells. Hemoglobin enables red blood cells to carry oxygen from your lungs to all parts of your body and to carry carbon dioxide from other parts of your body to your lungs so that it can be exhaled. Most blood cells, including red blood cells, are produced regularly in your bone marrow — a red, spongy material found within the cavities of many of your large bones. Thalassemia disrupts the normal production of hemoglobin and leads to a low level of hemoglobin and a high rate of red blood cell destruction, causing anemia. When you're anemic, your blood doesn't have enough red blood cells to carry oxygen to your tissues — leaving you fatigued. And to understand that you must know the hemoglobin structure which each content : (Four globular protein subunits .Two Alpha globin and two Beta globin - Iron (Fe) - Heme ). DISCUSSION : People whose hemoglobin does not produce enough alpha protein have alpha thalassemia. Four genes are involved in making the alpha hemoglobin chain. You get two from each of your parents. If one or more of the alpha hemoglobin genes are defective, you develop alpha-thalassemia. The more defective genes you have, the more severe your alphathalassemia: One gene : If you have only one missing gene, you're a silent carrier and won't have any signs of illness. Two gene : If you have two missing genes, you have alpha thalassemia trait (also called alpha thalassemia minor). You may have mild anemia
Three genes: If you have three missing genes, you likely will have hemoglobin H disease(which a blood test can detect ). This form of thalassemia causes moderate to severe anemia. Four genes: This condition is called alpha thalassemia major or hydrops fetalis. Babies with hydrops fetalis usually die before or shortly after birth People whose hemoglobin does not produce enough beta protein have beta thalassemia. Two genes are involved in making the beta hemoglobin chain. You get one from each of your parents If one or both of the beta hemoglobin genes are defective, you develop beta-thalassemia One gene: you have one altered gene, you're a carrier. This condition is called beta thalassemia trait or beta thalassemia minor It causes mild anemia. Two genes: If both genes are altered, you will have beta thalassemia intermedia or beta thalassemia major(also called Cooley's anemia). The intermedia form of the disorder causes moderate anemia. The major fom causes severe anemia Signs and symptoms of thalassemias are due to lack of oxygen in the bloodstream. This occurs because the body doesn,'t make enough healthy red blood cells and hemoglobin. The severity of symptoms depends on the severity of the disorder 1/ No Sy mptoms: Alpha thalassemia silent carriers generally have no signs or symptoms of the disorder 2/ Mild Anemia: People who have alpha or beta thalassemia trait can have mild anemia. 4/Severe Anemia and Other Signs and Symptoms People with hemoglobin H disease or beta thalassemia major (also called Cooleys anemia) have severe thalassemia. They may include severe anemia and other serious health problems, such as: [Pale and listless appearance-poor appetite- Dark urine- Slowed growth and delayed puberty -- Enlarged spleen, liver, and heart- Bone problems(especially bones in the face )I Citations http://www.thalassemia.org/index.php?option=comcontent&view=article&id=19 &Itemid=27 http://search.medscapecom/emedicine-search?queryText=thalassemia http://www.aurorahealthcareorg/ourhealth/healthgate/getcontent.asp?urlhealtH gate=%022115l0htm%622 http://www.mavoclinic.com/health/thalassemia/ds00905 .http://www.nhlbi.nihgov/health/dci/diseases/thalassemia/thaLassemiaWhatis.h
Three genes : If you have three missing genes, you likely will have hemoglobin H disease (which a blood test can detect). This form of thalassemia causes moderate to severe anemia. Four genes : This condition is called alpha thalassemia major or hydrops fetalis. Babies with hydrops fetalis usually die before or shortly after birth. People whose hemoglobin does not produce enough beta protein have beta thalassemia. Two genes are involved in making the beta hemoglobin chain. You get one from each of your parents. If one or both of the beta hemoglobin genes are defective, you develop beta-thalassemia : One gene: you have one altered gene, you're a carrier. This condition is called beta thalassemia trait or beta thalassemia minor. It causes mild anemia. Two genes : If both genes are altered, you will have beta thalassemia intermedia or beta thalassemia major (also called Cooley's anemia). The intermedia form of the disorder causes moderate anemia. The major form causes severe anemia. Signs and symptoms of thalassemias are due to lack of oxygen in the bloodstream. This occurs because the body doesn't make enough healthy red blood cells and hemoglobin. The severity of symptoms depends on the severity of the disorder. 1/ No Symptoms : Alpha thalassemia silent carriers generally have no signs or symptoms of the disorder. 2/ Mild Anemia : People who have alpha or beta thalassemia trait can have mild anemia. 4/ Severe Anemia and Other Signs and Symptoms : People with hemoglobin H disease or beta thalassemia major (also called Cooley's anemia) have severe thalassemia .They may include severe anemia and other serious health problems, such as: [Pale and listless appearance - Poor appetite - Dark urine - Slowed growth and delayed puberty – Jaundice - Enlarged spleen, liver, and heart - Bone problems (especially bones in the face)] Citations : • http://www.thalassemia.org/index.php?option=com_content&view=article&id=19 &Itemid=27 • http://search.medscape.com/emedicine-search?queryText=Thalassemia • http://www.aurorahealthcare.org/yourhealth/healthgate/getcontent.asp?URLhealth gate=%2211510.html%22 • http://www.mayoclinic.com/health/thalassemia/DS00905 • http://www.nhlbi.nih.gov/health/dci/Diseases/Thalassemia/Thalassemia_WhatIs.h tml
