The first successful haematopoietic stem cell transplantation (HSCT) was conducted in 1984. Significant advances have been made since and approximately 1,200 patients have undergone transplantation (Center for International Blood and Marrow Transplant Research, European Society for Blood and Marrow Transplantation personal communication, 2014). SCA is an inherited blood disorder caused by a qualitative mutation in the haemoglobin beta gene (HBB) resulting in an abnormal version known as haemoglobin S (HbS). Typically, normal haemoglobin (HbA) consists of four protein subunits, two alpha-globin and two beta-globin. Replacement of only one beta-globin subunit with HbS results in an asymptomatic heterozygous carrier of the sickle cell trait …show more content…
Screening is usually performed in a newborn blood spot test and the diagnosis is confirmed when electrophoresis demonstrates the presence of homozygous HbS.
SCA has been identified as a global public health problem by the World Health Organisation (WHO) and the united nations (UN) with over 5 million affected people worldwide and more than a quarter million live births every year (Piel et al, 2013). The sickle cell gene is prevalent throughout sub-Saharan Africa, the Middle East and regions of the Indian sub-continent with haemoglobin S carrier frequencies ranging from 5% to 40% or more of the population. The WHO has reported around 85% of SCA disorders and over 70% of all affected births occur in Africa.
Although SCA modifying therapies such as Hydroxyurea and chronic transfusion are available that have substiantially decreased the symptoms, these therapies do not prevent or reverse any future complications. To date, allogeneic HSCT remains the only curative form of treatment for SCA.
A phase 1-2 study was carried out by Hsieh et al (2014) determining the efficacy of nonmyeloablative allogeneic hematopoietic stem-cell transplantation for adults with severe sickle cell disease. Data showed improvement in respective mean hemoglobin levels for females and males as 8.8±0.3 and 9.3±0.5 g per deciliter before transplantation and 12.6±0.6 and 12.7±1.1 Nine patients developed long-term, stable donor lymphohaematopoietic engraftment at levels that sufficed to reverse the
“In the United States, it's estimated that sickle cell anemia affects 70,000–100,000 people, mainly African Americans” (NHLBI, NIH, Who is at risk for sickle cell anemia). SCD is a disease that is a serious disorder in which the body can make normal blood cells and sickle shape cells. Sickle shape cells can block the blood flow in your vessels and cause pain or organ damage also put you in risk for infections. SCD has no cure available but there are many treatments out there to deal with the complications of it. From over years treatments did get better from way back in the day doctors have learned. Sickle cell disease has lack of attention and funding because it’s only affecting
Sickle Cell Disease is an illness that affects people all across the globe. This paper will give a description of the sickness through the discussion of the causes, symptoms, and possible cures. Sickle Cell Disease (SCD) is a "group of inherited red blood cell disorders."(1) These disorders can have various afflictions, such as pain, damage and a low blood count--Sickle Cell Anemia.
Sickle Cell Disease is an autosomal recessive genetic disease that occurs due to a mutation in the β-globin gene of hemoglobin. Autosomal meaning that it is not linked to a sex chromosome, so either parent can pass on the gene to their child. This mutation is a result of a single substitution of amino acids, Glutamic for Valine at position 6 of a β globin chain. The presence of this mutation causes
Symptoms include pain, cardiovascular changes such as risk for high-output heart failure, priapism, low-grade fever, and organ damage due to poor tissue perfusion. Preventative measures for SCC include proper hydration, abstaining from cigarettes and alcohol, seeking medical attention at first sign of infection or illness, staying current on vaccines including a yearly flu vaccine, avoiding extreme temperatures and unpressured cabins on airplanes, and engaging in low-impact exercise three times a week (Byar,
Sickle cell disease (SCD) occurs in 1 out of every 365 African American births compared to 1 out of 16,000 Hispanic-American births (1). SCD is a group of red blood cell disorders in which patients have a sickle or moon-shaped red blood cell due to an abnormal S hemoglobin. While sickle cell disease is relatively rare in American births, this is an alarming statistic among people of Sub-Saharan (west and central) African descent. An interesting fact is that SCD occurs more often among people from parts of the world where malaria is or was common, such as Sub-Saharan Africa (1). In addition, it is believed that people who carry the sickle cell trait are less likely to have
Sickle Cell Anemia has proven to be one of the most widespread genetic diseases in America, affecting 100,000 or more individuals according to the NHBLI (2008). Each person affected by sickle cell anemia must seek out expert advice and care for combating the disease, but as of late, care has been lacking in the medical field for these patients. Therefore providing optimal care and effective treatments for patients with sickle cell anemia will involve more research and funding in the future. Studies have shown that treatment for sickle cell patients is lacking and drugs are scarce and sparse, which has left this population medically neglected. The need to focus more research and allocate more funding toward sickle cell research is evident
Then I'll note that the cause of these symptoms varies depending on the type of sickle cell disease. so There is different types of anemia and each type have a causes . This is some of them: Iron deficiency anemia this type occurs because of iron deficiency in the body. as the bone marrow needs iron to produce hemoglobin because it can not produce it when there is not enough iron, it can not produce enough red blood cells . Aplastic anemia This is a rare type that occurs due to infections, autoimmune diseases and exposure to toxic chemicals. Sickle cell anemia this is hereditary, where the body
Sickle -cell anemia is a very important subject to touch on in today’s time because many people honestly do not know what this is. Sickle -cell anemia is a severe hereditary form of anemia in which a mutated form of hemoglobin distorts the red blood cells into a crescent shape at low oxygen levels (SCDAA par .1). Also it is one of the most common diseases in the African American race. There are other races that this particular disease would show up in such as the Hispanics, and people of the South American descent. According to the American Society of Hematology there are a count for 70 ,000 to 100 ,000 African Americans suffering from this disease (American Society of Hematology par .1). Statistics also state that 1 in 12 African Americans even have the sickle cell trait (ASH par .4). By doing simple math, that means that over the course of a year, there are over 1 ,000 babies being born in the United States with that disease. I know if I was shocked by those numbers, there are others out there who would be shocked too. I believe there should be more awareness thrown out there about sickle cell anemia because, it takes 2 parents with the trait to bring a child into this world unknowingly with the full blown disease. Throughout many countries sickle -cell often times gets sucked under the radar, when it really should be front in center because of the severity of this disease. Sickle -cell does not go away in a few days with a little bit of rest or medication, like the
While people are trying to find a breakthrough cure for diseases such as Cancer, Sickle Cell patients feel that they are left in the dark of the public’s eye. Each day thousands of people are being faced with the shocking truth of having to live a very hard, tiresome, and very painful life. According to researchers about one in four hundred African American is affected with Sickle Cell. Therefore it is felt that there should be a greater effort in trying to find a cure for this disease.
Sickle cell disease is a chronic condition that a person can inherit from their parents in which it effects the globular structure of the patients red blood cells. A more sickle shaped structure, which can alter a person’s blood flow, replaces the more common globular structure. This impairment in blood flow can lead to blood clots, severe debilitating pain and damage to vital organs such as the liver, kidney and spleen. This disease currently affects over 90,000 people in the United States, with the majority of them being African American and
Sickle Cell Anemia is a hereditary disease that changes the smallest and most important components of the body. A gene causes the bone marrow in the body to make sickled shapes, when this happens; it causes the red blood cell to die faster. This is what causes Hemolytic Anemia. Older children and adults with sickle cell disease may experience a few complications, or have a pattern of ongoing problems that shorten their lives. The most common and serious complications of sickle cell disease are anemia, pain, fatigue, and organ failure. Today there are many alternatives and opportunities that a sickle cell patient may consider. One outlined in this paper is the Hydroxyurea method.
Sickle cell disease (SCD) patients undergo episodic or chronic blood transfusions to treat anemia and prevent life-threatening complications. Although blood transfusions provide benefits to SCD patients, there are also associated risks. The risks of transfusion include infectious disease transmission, circulatory overload, acute hemolytic transfusion reactions, iron overload, hyperhemolysis, red blood cell alloimmunization and delayed hemolytic transfusion reactions (DHTR). Alloimmunization and DHTR are one of the biggest challenges and occur in 25-30% of SCD patients. Only those patients who are responders will become alloimmunized. The number of units transfused, the limited or extended phenotypically matched red blood cell transfusion,
Sickle cell anemia (SCA), also known as HbSS disease, is a common life-threatening inherited blood disorder in the world. It is widespread in Africa, Italy, Greece, Turkey, India, and Saudi Arabia. Sickle cell disease was reported In Saudi Arabia for the first time in the 1960s. Although the rate of patients who suffer from sickle cell disease in Saudi Arabia is not clear, it varies according to the different provinces. The highest rate of patients is in the Eastern and southwestern provinces. This triggered the scientists to improve the Sickle cell anemia’s health care, determine the disease characteristics and amplifications, manage and control the symptoms, and limit the number of patients.
There has been a high neglect of people suffering from sickle cell anemia due to the lack of knowledge about the disease. Numerous individuals do not know the disease is hereditary nor do they know its symptoms. The paper will analysis the genetic basis of the disease and people who are at high risk of getting it. Moreover, the analysis will entail the treatment and symptoms of the
As an advanced practice nurse (APN), one will care for many patients with hematological disorders. Over the years the prognosis for these individuals has drastically improved. The purpose of this paper is to describe sickle cell anemia (SCA), evaluate the treatments, and discuss how age affects all of these things.