Sickle cell anemia (SCA) is one of the most prevalent recessive autosomal diseases in the world, affecting approximately 300,000 newborns each year, with the number predicted to rise to 400,000 by the year 2050. It is a disease of the β-globin gene (HBB), whereby a single nucleotide polymorphism (SNP) causes the β6 glutamic acid (Glu) to mutate into valine (Val). The resulting Glu6Val changes the conformation of the red blood cell (RBC) because Val is hydrophobic and Glu is acidic, polar, and has
Introduction Sickle cell disease (SCD) is an autosomal-recessive inheritance that results from a alteration in the gene responsible for the hemoglobin production. A healthy hemoglobin A is produced under normal circumstances, but for people with SCD they produce a sickle hemoglobin S. (Gill, V., 2010) Unlike normal hemoglobin A, hemoglobin S has a tendency to agglutinate, or clump together, when the oxygen supply is decreased. As a result, the red blood cells take on a rigid or “sickle” shape causing
disease sickle cell anemia is a very fascinating disease. I was glad and beyond astonished on how this genetic disease was discovered, described, treated, and all the obstacles the carrier had to weave through each and every day. Sickle cell anemia is actually carried on the 11th chromosome. Chromosome 11 codes for the beta subunit of the hemoglobin protein. As a result, since the chromosome is damaged it cannot produce hemoglobin for the cell causing the cell to form into a “C” or sickle shape, hence
Sickle cell anemia affects a wide range of demographics, from young to old. However, there are specific groups of people who are likely more prone to this disease than any other group. This disease affects millions of people worldwide regardless of age, but it is particularly common amongst those who derive from specific regions of the world. Sickle cell anemia is most common in those whose ancestors are derived from the sub-Saharan region of Africa. Furthermore, other regions that are known to have
Sickle Cell Anaemia Describe the molecular nature and the inheritance pattern of the disease/disorder, ensuring to cite the original research paper that first identified specific genetic & molecular nature of the disease. Sickle Cell Anaemia follows an autosomal recessive pattern of inheritance, meaning the gene is on an autosome as opposed to a sex chromosome, and the disease only expresses itself in individual who posses two copies of the gene. The prevalence of the disease can be mainly attributed
Sickle Cell Anaemia is a heredity disorder in which the red blood cells are affected by altering into a mutated-form of haemoglobin, most commonly at low oxygen levels. The altered-form of haemoglobin are crescent-shape; which are not flexible and can easily block the blood flow in smaller blood vessels and arteries (refer to figure 1). When both alleles inherited carry the sickle cell anaemia disease; 100% of the body’s haemoglobin will mutate into the sickle (crescent) shape. Sickle cell disease
Sickle Cell Anemia is a genetic disorder dealing with the hemoglobin within the red blood cells the individual has hemoglobin S (1). This causes the red blood cell to become gelatinous when deoxygenated (2). The Sickle Cell gene needs to be inhered from both of the parents; otherwise the individual will only carry the Sickle Cell trait. If the sickle cell trait is carried by an individual they can be asymptomatic. This individual can, however, transfer the gene abnormality to any offspring that they
Week nine 6521, N-17 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. SCA is a genetic disorder wherein a person is unable to produce normal hemoglobin A. Instead their bodies produce hemoglobin S, which differs from normal hemoglobin
anymore, is it worth it? Morgan Howlter was a normal teenager, she went to school, she lived with her parents and she had a little sister. Her little sister’s name was, Ella, Ella was a little different than other kids her age, she had sickle cell anemia. Sickle cell anemia is a disease that cannot be cured yet. Ella was diagnosed at age 7, she never really had a normal life she couldn’t be as energetic or as playful as the other kids. Morgan, ever since Ella was diagnosed she would take care of her.
Sickle cell anemia is the most common disease among African Mediterranean dissent; sickle cell anemia affects millions of people worldwide. There are 5 different types of Sickle Cell Disease which are Sickle Cell Anemia, Sickle-Hemoglobin C Disease, Sickle Beta Thalassemia Disease, Sickle-Hemoglobin D Disease, and Sickle-Hemoglobin O Disease. Sickle Cell Anemia is when a child inherits the Sickle Cell Disease gene from both parents in which they may gain the symptoms of Sickle Cell Disease, Sickle