{"id":1479,"date":"2020-08-07T00:54:22","date_gmt":"2020-08-07T00:54:22","guid":{"rendered":"https:\/\/meddists.com\/learn\/pre-clinical\/medical-genetics\/genetic-diseases\/genetic-diseases-autosomal-recessive-diseases-i\/"},"modified":"2020-08-07T01:01:22","modified_gmt":"2020-08-07T01:01:22","slug":"genetic-diseases-autosomal-recessive-diseases-i","status":"publish","type":"page","link":"https:\/\/meddists.com\/learn\/pre-clinical\/medical-genetics\/genetic-diseases\/genetic-diseases-autosomal-recessive-diseases-i\/","title":{"rendered":"Genetic Diseases: Autosomal Recessive Diseases I"},"content":{"rendered":"<span class=\"block-heading\" id=\"header_1\">\n<h2 class=\"wp-block-heading\" class=\"wp-block-heading\" class=\"title_collection title1\">Alpha Thalassemia<\/h2>\n<\/span><span class=\"block-content\" id=\"contents_1\">\n\n\n<ul class=\"wp-block-list\"><li>Alpha thalassemia is a hemoglobinopathy that is characterized by decreased synthesis of the alpha-globin chain and a consequent increase in the amount of the beta chain.<\/li><li>The excess beta chains will precipitate in the cell and damage the cell membrane, causing hemolysis.<\/li><li>Alpha thalassemia is caused by <strong>deletion<\/strong> of the genes responsible for Alpha chain synthesis.<\/li><li>It can be inherited in an autosomal dominant or autosomal recessive manner and different patients will present with different clinical pictures.<\/li><li>The oxygen-carrying capacity of the blood is reduced<\/li><li>As stated above, in alpha thalassemias, the synthesis of the alpha chain of globin is reduced. Since both the fetal and adult forms of haemoglobin contain the alpha chain, they are both affected by this.<\/li><li>In the fetus, instead of two alpha and two gamma chains, four gamma chains will be produced instead. This is known as<strong> Bart&#8217;s Hemoglobin(Hb Bart&#8217;s)<\/strong>. Fetuses with alpha thalassemia are born with generalized oedema knows as <strong>Hydrops fetalis<\/strong>.<\/li><li>In adults, instead of two alpha and two beta chains, four beta chains will be formed instead. This is known as <strong>Hemoglobin H(HbH)<\/strong>. In mild forms of thalassemia, the patient will have anaemia.<\/li><\/ul>\n\n\n<\/span><span class=\"block-heading\" id=\"header_2\">\n<h2 class=\"wp-block-heading\" class=\"wp-block-heading\" class=\"title_collection title1\">Beta Thalassemia<\/h2>\n<\/span><span class=\"block-content\" id=\"contents_2\">\n\n\n<ul class=\"wp-block-list\"><li>Beta thalassemia is a hemoglobinopathy that is characterized by a decreased synthesis of the beta-globin chain and a consequent increase in the amount of the alpha chain.<\/li><li>The excess alpha chains will precipitate in the cell and damage the cell membrane, causing hemolysis.<\/li><li>Beta thalassemia is caused by a <strong>point mutation<\/strong> in the genes responsible for Beta chain synthesis.<\/li><li>It can be inherited in an autosomal dominant or autosomal recessive manner and different patients present with different clinical pictures.<\/li><li>The oxygen-carrying capacity of the blood is reduced<\/li><li>As stated above, in beta thalassemias, the synthesis of the beta chain of globin is reduced. Since only the Adult(HbA) form of haemoglobin contains the beta chain, only these individuals are affected.<\/li><li>Beta thalassemia is not noticed at birth but only after a few months. Remember that the fetus has two gamma chains and needs time to switch them for the beta chains. This is when the disease becomes evident. Because of this, the levels of fetal haemoglobin (HbF) and Adult(HbA2) haemoglobin in the person will be increased.<\/li><li>Beta thalassemia differs from <strong>Hereditary Persistence of Fetal Hemoglobin<\/strong> in the sense that in Beta-thalassemia, only the beta chain is affected but in Hereditary Persistence of Fetal Hemoglobin, both the beta and delta chains are affected.<\/li><\/ul>\n\n\n<\/span><span class=\"block-heading\" id=\"header_3\">\n<h2 class=\"wp-block-heading\" class=\"wp-block-heading\" class=\"title_collection title1\">Sickle Cell<\/h2>\n<\/span><span class=\"block-content\" id=\"contents_3\">\n\n\n<ul class=\"wp-block-list\"><li>Sickle cell is a <strong>monogenic<\/strong> hemoglobinopathy characterized by the presence of <strong>sickled cells<\/strong> in the blood smear(they are called sickle cells because of their resemblance to the sickle; a farming tool)<\/li><li>It is caused by a mutation that <strong>substitutes Valine for Glutamine in the sixth position<\/strong> of the beta-globin chain.<\/li><li>The mutant haemoglobin is normal in well-oxygenated conditions but in hypobaric conditions(reduced oxygen pressure), they aggregate and form fibres that are not reversed when oxygen pressure return to normal. This aggregation gives the red blood cell the characteristic &#8216;sickle cell&#8217; shape, reducing their oxygen-carrying capacity and increasing the risk of hemolysis when passing through a capillary<em>(normal red blood cells with a biconcave shape can easily deform when passing small blood vessels. The sickle cells cannot do so and will hemolyse instead)<\/em><\/li><\/ul>\n\n\n\n<div class=\"wp-block-image\"><figure class=\"aligncenter\"><a href=\"https:\/\/meddists.com\/wp-content\/uploads\/2020\/03\/Risk-Factors-for-Sickle-Cell-Anemia_12.jpg\" target=\"_blank\" title=\"Genetic Diseases: Autosomal Recessive Diseases I\"><img decoding=\"async\" src=\"https:\/\/meddists.com\/wp-content\/uploads\/2020\/03\/Risk-Factors-for-Sickle-Cell-Anemia_12-600x452.jpg\" alt=\"\" class=\"wp-image-27535\"\/><\/a><figcaption><strong>Sickle cell anaemia that is caused by blockage of arteries and arterioles due to inability of the sickle cells to bend their shape when travelling through blood vessels. <\/strong>(Credit: Diana grib, CC BY-SA 4.0)<\/figcaption><\/figure><\/div>\n\n\n<\/span><span class=\"block-heading\" id=\"header_4\">\n<h2 class=\"wp-block-heading\" class=\"wp-block-heading\" class=\"title_collection title1\">Cystic Fibrosis<\/h2>\n<\/span><span class=\"block-content\" id=\"contents_4\">\n\n\n<ul class=\"wp-block-list\"><li>Cystic fibrosis is a <strong>monogenic<\/strong> transport defect of the <strong>Cystic Fibrosis Transmembrane conductance regulator(CFTR)<\/strong>; a Chloride channel.<\/li><li>The mutation happens in the <strong>F508 position<\/strong> of the CTFR gene.<\/li><li>This abnormal Cl<sup>&#8211;<\/sup> transport causes an abnormal transport of Na<sup>+<\/sup> that leads to the production of thick, viscous mucous.<\/li><li>Cystic fibrosis affects many body systems and organs especially the lungs and pancreas.<\/li><li>The thick mucous clogs the lungs and can eventually lead to death<\/li><li>Half of all affected persons are homozygous recessive while the rest are compound heterozygotes<em>(details on compound heterozygotes are discussed in the Transmission Genetics: Mendelian Genetics: Introduction and important terms course)<\/em><\/li><\/ul>\n\n\n\n<div class=\"wp-block-image\"><figure class=\"aligncenter\"><a href=\"https:\/\/meddists.com\/wp-content\/uploads\/2020\/03\/Cysticfibrosis01.jpg\" target=\"_blank\" title=\"Genetic Diseases: Autosomal Recessive Diseases I\"><img decoding=\"async\" src=\"https:\/\/meddists.com\/wp-content\/uploads\/2020\/03\/Cysticfibrosis01.jpg\" alt=\"\" class=\"wp-image-27533\"\/><\/a><figcaption><strong>Organs affected by Cystic Fibrosis<\/strong>(Credit: National Heart Lung and Blood Institute (NIH) )<\/figcaption><\/figure><\/div>\n\n\n<\/span><span class=\"block-heading\" id=\"header_5\">\n<h2 class=\"wp-block-heading\" class=\"wp-block-heading\" class=\"title_collection title1\">Albinism<\/h2>\n<\/span><span class=\"block-content\" id=\"contents_5\">\n\n\n<ul class=\"wp-block-list\"><li>Albinism is a <strong>monogenic<\/strong> trait that is characterized by red eyes, light skin, light hair and photo-sensitivity of the skin.<\/li><li>The photo-sensitivity is due to the lack of melanin in the skin. As melanin helps to protect against the UV rays of the sun, these patients are susceptible to skin cancer.<\/li><li>It is caused by a mutation in the enzyme <strong>Tyrosinase<\/strong> that is responsible for the production of melanin.<\/li><\/ul>\n<\/span><div id=\"the_titles\" style=\"display:none;\"><h2 class=\"wp-block-heading\" class=\"wp-block-heading\">Alpha Thalassemia<\/h2><h2 class=\"wp-block-heading\" class=\"wp-block-heading\">Beta Thalassemia<\/h2><h2 class=\"wp-block-heading\" class=\"wp-block-heading\">Sickle Cell<\/h2><h2 class=\"wp-block-heading\" class=\"wp-block-heading\">Cystic Fibrosis<\/h2><h2 class=\"wp-block-heading\" class=\"wp-block-heading\">Albinism<\/h2><\/div>","protected":false},"excerpt":{"rendered":"<p>Alpha Thalassemia Alpha thalassemia is a hemoglobinopathy that is characterized by decreased synthesis of the alpha-globin chain and a consequent increase in the amount of the beta chain. The excess beta chains will precipitate in the cell and damage the cell membrane, causing hemolysis. Alpha thalassemia is caused by deletion of the genes responsible for [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":1450,"menu_order":1,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-1479","page","type-page","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Genetic Diseases: Autosomal Recessive Diseases I &#8211; Meddists<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/meddists.com\/learn\/pre-clinical\/medical-genetics\/genetic-diseases\/genetic-diseases-autosomal-recessive-diseases-i\/\" \/>\n<meta name=\"twitter:label1\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data1\" content=\"4 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/meddists.com\\\/learn\\\/pre-clinical\\\/medical-genetics\\\/genetic-diseases\\\/genetic-diseases-autosomal-recessive-diseases-i\\\/\",\"url\":\"https:\\\/\\\/meddists.com\\\/learn\\\/pre-clinical\\\/medical-genetics\\\/genetic-diseases\\\/genetic-diseases-autosomal-recessive-diseases-i\\\/\",\"name\":\"Genetic Diseases: Autosomal Recessive Diseases I &#8211; 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