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
…show more content…
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
The patient has noted that over the past several weeks that he discovered more bruises or even ecchymosis all over his body. The patient has found small red marks around his eyes, the next morning. The patient was self-diagnosing himself, however due to the doctors, the patient has thrombocytopenia that he diagnoses with recently. Thrombocytopenia is a blood disorder that has insufficient platelets in the blood stream. The disease is one of the most common results that are in hospital patients who tend to bleed, then it will stop bleeding and clump up the blood vessels. If any reason an individual platelet falls below normal, then the condition will develop called Thrombocytopenia. The cause of this disorder, (Thrombocytopenia, n.d.) “thrombocytopenia can be inherited or it can be caused by numerous conditions or even drugs”. Thrombocytopenia symptoms are from; bruising, an enlarged spleen. Excessive bleeding on the menstrual cycle, nose bleeds, and jaundice. The enlarged spleen has too many platelets causing it to decrease. The disease also consists of leukemia or a viral infection. The increased breakdown that is caused by some things with the condition. Also serve options lead to a transfusion or finding an underlying. Nevertheless, thrombocytopenia cannot be prevented although, at the same time some conditions of thrombocytopenia can be avoided. By avoiding alcohol and if a person
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.
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...
1. This was a bad mistake. I was born with neutropenia, a blood disease that affects the
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.
Blood transfusions allow for infected blood cells to be cycled out and replaced by fresh new blood cells in hope that hemoglobin levels will be restored within the body. When treating a person with liver disease it’s almost routine for them to experience several blood transfusions a month in order to help restore properly working blood cells back into their bodies. Blood transfusions are also a more structurally sound medical procedure when compared to several medications or radiation therapy alternatives, which can in turn cause a number of other problems. Another example of a disease that can be supported by the cycling of blood is Anemia. There several different types of anemia including aplastic, fanconi, hemolytic, and sickle cell anemia. The Mayo Clinic describes Anemia as “condition in which you don't have enough healthy red blood cells to carry adequate oxygen to the body's tissues”. Hematologists have been prescribing their anemia patients with several blood transfusions a month in hopes of training their bodies to make proper working blood cells once again. A study posted in the Journal of Palliative Medicine was conducted on 64 volunteer patients with several different forms of anemia to see if blood transfusions would benefit their hemoglobin values over a 15-day period. It turns out that 95 percent of the patients had some
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...
Pancytopenia a type of anemia that can be define as a decrease in three blood cell types, red blood cells, white blood cells, and platelets. Prior to my pathophysiology course, I had never actually came across a patient in practice with this diagnosis. However, a few weeks ago, as I was receiving report from the off going nurse, she informed me my patient had recently been released from University of Hospital (U of L) with similar symptoms and had been treated for Helicobacter pylori infection. After receiving the discharge summary from U of L, it was discovered the patient had additionally been diagnosed with pancytopenia. My attention was immediately perked up as we had recently did a case study with the diagnosis of pancytopenia. It was a busy 12hrs and I had little time to study her case to the extent I would have like to. However, I will share some of the signs and symptoms discovered during my assessment.
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...
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.
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).
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).
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 ...
...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.
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: