“Fierce pain, paralysis and sickness took over my body, for week’s doctors seemed to think I was either making it up, mad or anorexic. Eventually they discovered it was porphyria, and it was inherited from my father… We learned that antibiotics prescribed for a minor infection, had probably triggered it in my case, but after that, I generally suffered attacks in my pre-menstrual period. These attacks varied in severity, but the pain and vomiting were omnipresent… My weight gradually dropped, as I was unable to regain it in the short periods of time between attacks, which led me to an attack which left me almost completely paralyzed.” (Elizabeth, 2011)
Porphyria is a hereditary disease that only requires one parent to pass it on. Porphyria consists of eight different forms, but all of them have an abnormal accumulations of porphyrins,caused by heme, a part of red blood cells that gives them their color and carries oxygen(Drugs). The irregularities of heme affect the chemical Porphyrin, which gives the disease its name. Porphyria attacks the nervous and muscular symptoms. This can cause abnormal skin reactions to sunlight, as well as seizures, nausea, and other symptoms. People with porphyria usually must avoid staying in the sun without protection, and must keep stress levels low, as this can cause symptoms or an attack of porphyria.
Porphyria is caused when heme is disrupted. The synthesis of heme involves eight different enzymes, which creates eight different forms of porphyria. The disruption of heme causes porphyrin to build up in various spots around the body. It eventually causes problems in the liver, which will turn the urine dark. This is why most cases of porphyria have liver problems (American Porphyria Foundation).
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...utanea tarda like symptoms. As many as 5000 people reported having symptoms of blistering skin. In the original novel by Gaston Leroux, The Phantom of the Opera, it is believed that the phantom’s facial deformity is caused by porphyria (American Porphyria Foundation).
Porphyria is a serious disease that can leave people in severe pain, paralysis, or even death. However, if it is diagnosed and treated properly, it can be a manageable disease. Most of the deaths that occur are in those who don’t know they have it when they are exposed to alcohol, toxins, or changes in diet. However, people with this disease are able to learn and persevere through their condition and adapt to live comfortable normal lives. New research is allowing for new medicine to be developed that can limit the attacks people have. Tests are also being implicated to catch porphyria at earlier ages.
A sudden urge to snoop through her boyfriend's phone, a sudden urge to rid her home of nonexistent bedbugs, and a sudden urge to distrust her closest friends. Although these impulses were atypical for Cahalan, she shrugged them off and attempted to continue her life as normal. Her “normal” life began to consist of incoherent rambling, emotional instability, and frequent seizures. Close friends and family decided it was time for a checkup, and convinced Cahalan to comply.
Hidradenitis Suppurativa (HS) is a chronic skin condition that features lumps under the skin that range from pea-sized to marble sized. This condition is also known as acne inversa. Hidradenitis Suppurativa is NOT contagious. This condition usually occurs where skin rubs together such as between the buttocks, under the breasts, the armpits and the groin. Most of these lumps tend to be very painful and when they break open they often produce malodorous pus.
Xeroderma Pigmentosum is a genetic disorder caused by a mutation in one of any seven genes. This genetic mutation is an autosomal recessive trait. This disease was discovered in 1874 by Hebra and Kaposi. People with this disease cannot have direct exposure to sunlight, or blisters on the skin may occur. There are only about 250 people in the world with this disease.
because he felt she did not share his love for her. This poem is in
Convulsions, diarrhea, vomiting, skin discoloration, hallucinations, burning and cold sensations, coma, and death are all symptoms of convulsive ergot poisoning (Coll). Ergot poisoning was said to be the cause of the bewitched behavior of the afflicted girls during the Salem witch trials; however, convulsive ergotism only occurs in places lacking vitamin A, the symptoms of ergot were not present in the girls, and the girls were most likely faking all of the symptoms that they did have.
Credibility statement: I may not look like an expert of any sort, but I have personally seen how this disease takes over the body in my own grand-mother.
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.
Hemophillia is a rare bleeding disorder in which the blood does not clot normally. Hemophillia is usually inherited and people born with it have little or no clotting factor (a protein needed for normal blood clotting). These proteins work together with platelets to help the blood clot. When blood vessels are injured, clotting factors help platelets stick together to plug cuts and breaks on the vessels. Hemophillia usually occurs in males with about 1 in every 5 000 males being born with the disease each year. A hemophiliac does not bleed more intensely than a person without it but can bleed for a much longer time. In some severe cases, continuous bleeding occurs after minor trauma or can even happen spontaneously.They may also bleed inside their body(internally), especially in the knees, ankles, and elbows. The bleeding can damage organs and tissues and may be life threatening. There are two main types of hemophilia: A and B. People born with type A are missing or have low levels of clotting factor VIII (1 in 5 000 males). People born with type B are missing or have low levels of clotting factor IX (1 in 20 000 males). About 8 out of 10 people who have hemophillia have type A. The greatest concern for both types is deep internal bleeding and bleeding into joints. Hemophilia is a life long disease, but with proper treatment and self-care, most people maintain an active productive lifestyle.
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...
What are the common symptoms of Beta Thalassemia? Beta Thalassemia can cause a variety of longterm and short term effects. 21 year old Hannah Husom was born with permanent yellow skin. She was always fatigue and carried a very low blood count. When Hannah was 7 years old, she was diagonsed with Beta Thalassemia major which effects the body’s ability to produce hemoglobin, that contains a protein to carry oxygen, resulting in Anemia.
Psoriasis is a disease that has been associated with humans since the beginning of time. It is a type of autoimmune disease that produces red, slivery, and scaly patches to appear on the skin. Autoimmune disease is a type of disease that occurs when the body’s immune system mistaken the body’s organs as foreign substance. Psoriasis is chronic and can affect people of all ages but it is not contagious. There are currently about 125 million people around the world suffering from psoriasis or about 3% of the world’s total population. This essay will discuss the importance, biochemistry, and the potential treatment options of psoriasis.
globally spread. The symptoms of this illness are quite defined and are very recognizable. Cause
Alpha thalassemia is a blood disorder that reduces the production of hemoglobin, which is the protein in red blood cells responsible for carrying oxygen throughout the body. Those affected experience a shortage of efficient oxygen-carrying red blood cells, causing anemia, and manifesting in the observable signs of: pale skin, weakness, fatigue, or serious complications when coupled with other illnesses. Thalassemia is a blood disorder passed down through families (since it is inherited siblings may share this disease) in which the body makes an abnormal form of hemoglobin, resulting in excessive destruction of red blood cells and diminishing the affected person’s normal, healthy red blood cells. Damage to the body is caused by either a genetic mutation or a deletion of HBA1 and HBA2 genes. Because each person inherits two alpha-globin alleles from each parent, when both parents are missing at least one alpha-globin allele, the child is at risk of having Hb Bart syndrome, HbH disease, or alpha thalassemia depending on the number of missing working alleles. Involving the genes HBA1 and HBA2, alpha-thalassemia is due to impaired production of either 1, 2, 3, or 4 alpha globin chains, leading to an excess of beta globin chains. There are four copies of the gene instructing the body to make alpha globin; the more functioning genes a person has, the more alpha globin is made, whereas the number of non-working genes determines what type of alpha thalassemia a person has since when one or more of the alpha globin genes is not working properly, less alpha globin is made. There exist different types of alpha thalassemia: having three normal alpha genes results in a silent carrier state; two normal alpha genes results in mic...
Clinic Staff, Mayo. "Diseases and Conditions Plague."Mayo Clinic. N.p., 26 Mar 2013. Web. 14 Apr 2014. .
Hemophilia is a rare genetic blood disease characterized by the inability or impairment of blood to clot or coagulate when a blood vessel is broken. This inherited disease is caused by an insufficiency of blood proteins, known as factors, which participate in blood clotting often by sudden gene mutation. Hemophilia can be characterized into three distinct types, including Hemophilia A, Hemophilia B, and Hemophilia C. Biologically, hemophilia is a unique genetic disorder that