Looking at the mirror, crying so no one can hear, impending death is near, the boy knows that he doesn't have much longer to live. Looking at the mirror, crying so no one can hear, impending death is near, the boy knows that he doesn't have much longer to live. Fanconi’s Anemia, also known as FA, causes many complications in a person's life, such as the inability to produce blood cells. When your body can no longer produce the blood cells, the person becomes very weak and highly susceptible to developing leukemia. Being able to understand what causes FA and the symptoms that the patients with this disorder show has aided doctors in coming up with new approaches to eventually find a cure for those affected.
Fanconi’s Anemia was discovered and
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described in 1967 in Sweden by a Swedish doctor named Guido Fanconi. He discovered the disorder while treating two siblings with similar physical anomalies and bone marrow failure. The official demographic for the amount of people affected by fanconi’s anemia has not yet been discovered but it is estimated that around 1-600 people carry one recessive abnormal allele causing FA. Fatigue, deformed bone structure, and inability to produce blood cells were the first thing noted by Dr. Fanconi which led to the discovery of FA. Now that it is being seen more prevalently in children and adults there has been an increase of research in treatment and therapy in attempts to help the unfortunate women and men. In light of some of these complications and defects, there is potential for some very serious diseases to develop and difficult symptoms to overcome by the ones affected by FA face.
Because FA affects the function of the bone marrow and eventually leads to bone marrow failure, an adequate amount of red, and white blood cells, and platelets are not produced. When there is a deficiency in red blood cells patients may experience “weakness, fatigue, and a pale appearance” yet, when a person's body doesn't produce enough white blood cells they “may be vulnerable to common germs and infections.” Additionally, a person who has an inability to produce blood platelets suffers from “easy bruising, nosebleeds, and possible internal bleeding” (Freivogel). In addition to bone marrow failure, around ten to fifteen percent of people with FA are diagnosed with leukemia, “specifically acute myelogenous leukemia (AML)” (Freivogel). leukemia affects the blood system, causing your body to rapidly produce abnormal white blood cells which suppresses the production of healthy white blood cells. To make matters worse when a patient has FA it makes them extremely sensitive to the harsh drugs used in treating leukemia making it very difficult to treat. Hyperpigmentation was recorded in “approximately 65% of patients” (Freivogel). Hyperpigmentation is a darkening of the skin, it can appear in spots or splotches, or it can cover a larger area of the individual's skin. The symptoms of FA are very
taxing on the person's body, many patients die before the age of 22, the longer the patient lives the greater the risk for developing cancerous tumors. With treatment options few and the possibility of tumors running rampant, doctors are working vigorously to find a more permanent fix for FA. Researchers have found that with a lack of blood cells being produced, the average infection has a much harder punch than it would on a healthy individual. In turn, patients receive antibiotics to help fight off sickness and sometimes a blood transfusion in which case “hospitalization may be necessary to adequately tend to these complications” (Freivogel). Any hospital that is adequately equipped to facilitate a blood transfusion would be acceptable in tending to a patient's needs. The average cost of a blood transfusion is $219 and can be performed at most any hospital. Patients will receive blood transfusions as needed. Another treatment option that has helped in prolonging the life of some patients is an allogeneic bone marrow transplant. Meaning the bone marrow comes from a donor. The problem with undergoing a bone marrow transplant is the staggering price (can change depending upon location and region) of roughly $805,400. That's how much the average American makes in 16 years! Not only is the cost high, but the longer the patient lives the higher the risk of them developing a cancerous tumor. There is still research being done to increase the lifespan of those suffering from FA. Though the odds seem to be against them, researchers are working tirelessly to find a more permanent solution. To conclude, men and women affected by this genetic disorder must overcome the tough circumstances that their life throws at them. The race to find a cure is not over and medical personnel are continuing to work diligently in their efforts to find the cure.
1. This was a bad mistake. I was born with neutropenia, a blood disease that affects the
Chronic Myeloid leukemia (CML) is a blood and bone marrow disease that slowly progresses. The disease usually occurs in middle aged or older individuals and rarely occurs in children. In CML, an unusually high number of blood stem cells become granulocytes. These granulocytes, also called leukemia cells are irregular in shape and do not develop into healthy white blood cells. Eventually, they concentrate in the blood leaving no room for healthy cells which may lead to infection, anemia, or bleeding. The typical signs of CML include fatigue, fever, night sweats, and weight loss (6).
In regenerative anemia, the bone marrow is responding to the anemia by increasing the erythrocyte or red blood cell production. This means that there will be an increase in immature red blood cells in the circulating blood. On a blood smear it is likely to notice nucleated red blood cells (nRBCs), polychromatophils, an increase in reticulocytes, and also Howell-Jolly bodies (HJ bodies). The cause of this type of anemia is usually hemorrhage or hemolysis. Since the bone marrow is responding, it is likely that the red cell mass will eventually return to normal once the bone marrow has produced enough red blood cells to make up for the significant loss. Since the patient has lost a substantial amount of blood, albumin and globulin levels are usually decreased. The mean corpuscular volume (MCV) of the animal is going to be increased during this time because of the fact that the reticulocytes are larger than mature erythrocytes. The mean corpuscular hemoglobin concentration (MCHC) will be decreased. This is decreased as a result of the immature red blood cells, especially the reticulocytes, since they are larger cells that have less hemoglobin, because the bone marrow is trying to produce cells as quickly as possible, but due to that t...
Hemochromatosis is a disease which makes your body absorb all of the iron in food, instead of regulating iron intake. Hemochromatosis “attacks” the entire body, especially the places where most of the iron normally goes: the bloodstream and liver. Some symptoms of this disease are bone and joint discomfort, liver problems, irregular heartbeat, and an unusual bronzing of the skin. Armand Trousseau first described it in 1865 as Diabetes bronze, due to people with diabetes showing the bronze-skin symptom. It was thought to be quite rare at the time. About “⅓ or ¼ of people of Western European descent have th...
Yearly, around six hundred to nine hundred people are diagnosed with Aplastic Anemia within the United States. Aplastic Anemia is a autoimmune hematological disorder that causes pancytopenia which is a reduction in major blood components, namely, erythrocytes, leukocytes and platelets. This disease has been labelled as a type of bone marrow failure, that is often due to not one but a variety of disorders that occur simultaneously. Aplastic Anemia can therefore be defined as a bone marrow disorder that is often rare, non contagious, and can often be life threatening.
It consists of an inherited enzyme deficiency. Some indications of favism include anemia and weakness. This disease is most commonly found in North Africa and Southern Europe, which is where fava beans are mostly farmed. To determine if someone has favism, they can take tests for anemia. It can be treated through blood transfusions which replenish the iron in the blood. This deficiency was first discovered in the 1950s during the Korean War. This period was the first time people realized that fava beans can lead to fatal reactions. Another disease, Malaria, which is caused by an invasion or red blood cells by infectious parasites, was frequently found in Korea. Due to the prevalence of malaria, soldiers were given antimalarial drugs including primaquine. This drug led to the development of anemia in many African American soldiers. Some soldiers also were diagnosed with hemolytic anemia, a disease which causes blood cells to explode. After the Korean war was over, many doctors noticed that the cause of the soldier’s reaction to the drugs was due to their lack of the glucose-6-phosphate dehydrogenase, also known as G6PD. The consumption of fava beans exposes free radicals to the bloodstream. If anyone is lacking G6PD they are unable to dispose of the free radicals, which leads to the breaking down of blood cells and the cardiovascular system being affected.
There are many causes of anemia in the body. Some factors include genetics and deficiencies in the diet. Ms. A claims that for the past 10 – 12 years menorrhagia and dysmenorrheal have been a problem for her. Menorrhagia is abnormal and heavy menstrual bleeding during menstruation (Mayoclinic, 2013). Menorrhagia can deplete iron levels in the blood and increase the risk of an individual to have iron deficiency anemia. This is the cause of Ms. A’s anemia. Moreover, Ms. A says that she constantly takes aspirin especially in the summer to prevent stiffness in the joints. Aspirin affects and hinders the production of red blood cells (Mayoclinic, 2013). From the description of anemia given above, the lack of red blood cells, leads to low levels of iron and therefore low levels of hemoglobin which in turn affects the transportation of oxygen and thereby causing shortness of breath. Ms. A’s initial complains of shortness of breath and fatigue is the reason why she went to see the physician.
The University of Texas MD Anderson Cancer Center states the disease is divided into two major types namely acute and chronic. The acute types of the disease are those that progress quickly and involve an overgrowth of very immature blood cells. This becomes life threatening because very few mature cells mean that the body loses its ability to prevent infection, anemia and bleeding disorders. A diagnosis of the acute type is given when the immature cells found account for 20% or more of the blood cells produced. The chronic type progress slowly and involves an overgrowth of mature blood cells. In contract to the acute type people affect by this type usually h...
Anorexia is a serious and life threatening condition. It can result in death due to starvation, heart failure, or electrolyte imbalance. The first step in helping someone suffering with anorexia is to diagnose the physical characteristics attributed with the disease...
I was on my Monday evening shift and I was assigned for eight patients where seven of them were older and this teen named Mr.Govanni was with sickle cell anemia. When I took the handover from the dayshift nurse, I particularly noticed this patient from my assignment list because of his age and condition and at the same time the nurse who handed over the duty specifically told me that the teen boy was non-cooperative and also I saw it from the chart that the patient was getting the normal saline at 75cc/hr, CBC result morning( 6 am) showed HB-82g/dl, WBC 10.6. According to doctor’s order repeat CBC at 1600hr and if the HB is less than 80 transfuse two units of PRBC and lasix 40 mg in between the transfusion.
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...
...ver problems. It may also make the person more likely to get infections. Blood transfusions may help control some symptoms. But this could lead to having too much iron, as it stated before. Too much iron could damage the heart, liver, and endocrine system.
Polycythaemia is a blood disorder defined as an increase in blood erythrocyte concentration. Absolute polycythaemia is where this increase is caused by greater erythrocyte production, determined by measuring the haematocrit level, with one study showing that 83% of sufferers have a haematocrit level of >55%. This should not be confused with relative polycythaemia, caused by a decrease in blood plasma volume often secondary to hypertension. Interestingly, those affected tend to also have increased blood platelet and white cell concentrations, which correlates well with the notion that the disease is caused by a genetic defect in the haematopoietic stem cell population within the bone marrow. Studies have shown the median age of onset to be 60, although a Mayo Clinic study in Olmstead County, Minnesota showed it to be slightly higher, at between 70 and 79 years, with men affected more than women – though the reason behind the gender inequality is currently unknown. In addition, its prevalence within the US is thought to be in the region of 50/100,000. Furthermore, it has long been known that Finnish skier and seven time Olympic champion Eero Mantyranta suffered from the disease, and it is often stated that his success, at least in part, can be put down to his polycythaemia – indeed experiments have shown that it can increase the blood oxygen carrying capacity by up to 50%, an undeniable asset to any endurance athlete. However, the disease can also prove fatal in many cases because the thickened blood increases the probability of clot formation, giving deep vein thrombosis and potentially pulmonary embolus. It is this double edged nature of polycythaemia that first took ...
During the infusion of the second unit of blood transfusion, the nurse noticed that Mrs. Jones’ had a reaction all over her body which was rashes on the entire body and she was shivering. Her shivering indicates that Mrs. Jones may have fever or chill that are the sign and symptoms caused due to transfusion reaction (Potter, 2014). Mrs. Jones is complaining about pain in her lower back can cause an acute hemolytic reaction, and the other symptoms can be bloody urine, fever, flushing of the skin (Dugdale, 2017). “An acute hemolytic transfusion reaction is a serious problem that occurs after a patient receives a transfusion of blood. The red blood cells that were given to the patient are destroyed by the patient's immune system” (Dugdale, 2017).
There are several different types of anaemia with different symptoms and effects on the human body most of them have very similar impacts on health. Some people inherit the disorder whilst some grow into it. It can be diagnosed at the age of two or during the younger years in a humans life. The causes of this disorder begin with during pregnancy. Some of the common types of anaemia is: