Summary: The Genetic Disease Sickle Cell Anemia

Sickle Cell Disease is a hereditary issue in which the body produces Sickled formed red platelets. In Sickle cell disease, or SCD, the hemoglobin in red platelets gathers together. This in turn causes red platelets to get firm and C-formed. The most well-known signs and indications of SCD are anemia and pain through the body.

Sickle-cell Anemia is a disorder that is typically inherited from a person's parents. Sickle-cell anemia results in an abnormality in the oxygen-carrying protein haemoglobin (haemoglobin S) that is found in red blood cells. In such a condition the red blood cells contort into a sickle shape. The affected cells die early which results to a shortage of healthy red blood cells and can block blood flow causing pain. The disease s caused by gene mutation through the process of substitution. In the Sickle-cell condition one Amino Acid; glutamic acid is always replaced by another acid valine. This happens in each of the two polypeptide chains of the haemoglobin molecule.This alteration results to a haemoglobin type S that is defective and is genetically

This disease can cause severe pain and fevers, anemia, circulatory problems, strokes, and even “sudden death.” The sickle cells are able to get caught in the capillaries and disturbs the circulatory system (Eckman 447). When a person has abnormal swelling in their feet and hands, this could be caused by a buildup of “sickle-shaped red blood cells blocking blood flow to the feet and hands.” When sickle cells damage an organ, this can make a patient more “vulnerable” to infections (Mayo Clinic Staff). For example, when red blood cells “get stuck in the spleen,” this causes a splenic sequestration crisis. When this occurs, most of the blood cells are sent to the spleen which leads to less red blood cells being able to circulate in the blood stream. Symptoms of a splenic sequestration crisis include, “shortness of breath” and “having pale

This paper looks in depth at the disease process of sickle cell anemia. It starts out by covering the pathophysiology of the disease and how it functions within the body. The second section of the paper covers the ways to manage sickle cell anemia, whether it be by medication or blood transfusions, or both. The third section is meant to emphasize the important assessment details and how things should be prioritized for the patient with this disease; it also defines which lab values are most important to monitor for the patient. The paper concludes with a case study which details an African American family wishing to start a family. They undergo genetic counseling and receive information on the impact of sickle cell anemia in regards to

Sickle-cell anemia is a genetic disease. People who are affected have two copes of the mutant gene. Normally, if a patient is heterozygous for the sickle-cell gene, they do not display any symptoms of the disease. Sickle-cell anemia is characterized by a deformation of red blood cells that are elongated and resemble sickles. In sickle-cell disease, mutated hemoglobin binds together to form large masses, which give the red blood cells their sickle shape. The hemoglobin found in this disease is referred to as hemoglobin S (Hb S), as opposed to normal adult hemoglobin, hemoglobin A (Hb A).

Sickle cell disease (SCD) is an autosomal recessive disease that is common in African Americans. This disease arises from a single base-pair substitution of thymine for adenine and this makes valine in its place of glutamine in the sixth position of the Beta-globin molecule. When this swap occurs in a homozygous state and this is the sickle cell disease. Clinical signs result from polymerization of the abnormal haemoglobin and the sickling of cells. (Thompson, 2010)

Roughly two billion- over 30%- of the world’s population is anemic. Anemia is a serious condition which is marked by a deficiency of healthy red blood cells. Many people develop anemia because of a lack of iron in the blood or during menstruation. However, anemia can be caused by decreased or faulty blood cells. One of the most widely known classifications of anemia is sickle cell anemia, a hereditary disorder in which the body manufactures sickle (crescent) shaped red blood cells. Normal red blood cells are disc-shaped and can move easily through blood vessels, while sickle cells are oblong, curved, and stiff. They tend to block blood flow in the blood vessels of the limbs and organs, which can cause pain and organ damage. It can raise the

Sickle cell anemia is a disease that affects between 90,000-100,000 Americans. What causes such a problem?

Sickle-cell anemia: causes red blood cells to have a crescent shape rather than a flexible round shape.

In this article, researchers at CWRU in Cleveland Ohio created a microfluidic platform to monitor the extent of someone's sickle cell disease. This could be instrumental in tracking the progress of sickle cell disease and could be responsible for recognizing problems and finding solutions. Due to the short length of the article, it didn’t go into anything about how microfluidics worked. On another site, I found it requires about a microliter of blood. Most chips have seven channels that each hold reagents and markers that identify targeted molecules. A syringe acts as a vacuum and pulls the blood through the channels. Then gold and silver nanoparticles attach to molecules and provide color which allows you to interpret the tests. It takes under

Sickle-cell disease majorly affects the hemoglobin that is present in our blood. The job of hemoglobin is to help transport oxygen and carbon dioxide to and from the cells throughout our body. Hemoglobin is present specifically in our red blood cells. Each red blood cell contains two hundred and eighty million hemoglobin molecules. Red blood cells normal shape is a biconcave shape because of the lack of many organelles and a nucleus. The shape is so important to a red blood cells functioning that if it is not shaped normally it has major consequences. The shape helps them to fit through capillaries easier and also allows for an increased surface area which results in easier gas exchange. Sickle-cell disease is a genetic disease that causes issues in the oxygen/carbon dioxide carrying hemoglobin molecules that are present in our red blood cells.

Sickle cell disease affects approximately 100,000 Americans and millions across the globe (Sobota, 2015). The three most common types of sickle cell disease are Hb SS (sickle cell anemia), Hb SC, and Hb S beta thalassemia, with Hb SS being the most common type (Harris, 2001). Sickle cell disease occurs in individuals who inherit the mutated hemoglobin gene, from one or both of their parents. The mutated hemoglobin, known as Hb S, crystalizes and join together “into many small cords, which form chains that look like twisted wires” (Harris, 2001, p. 20). Stretched to contain the Hb S crystals, the red blood cells take on spike and sickle shapes; this is how the name for the disease came about (Harris, 2001). Deformed, the sickled cells have a hard time moving through the blood stream and can eventually pile up in the blood vessels, having life-threatening consequences. Although oxygen can reverse the sickling process in cells, turning Hb S back into a liquid, after a few sicklings the red blood cells’ membrane is permanently damaged and the cell will remain sickled.

Sickle cell anemia is an anemia that is inherited and mostly affects people whose heritage can be traced back to places where malaria was prevalent. There are approximately 100,000 Americans that have the disease and many more with the trait. Several of my family members are afflicted by this medical condition that causes red blood cells to take on an irregular shape.

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 a negative charge. This SNP causes the hemoglobin (Hb) to alter its tertiary structure, forming Hb S which then creates long polymers that alter the RBC’s shape. Many forms of treatment for SCA are being researched, with some of the most promising results coming from gene therapy. Although gene therapy does provide a promising outlook for many diseases, the technique is still under

Sickle cell disease was the first genetic disease discovered1. It happens on chromosome 11. Its cause was pinpointed to a particular mutation. Sickle cell disease described a group of inherited red blood cell disorders. People who are diagnosed usually have abnormal hemoglobin in their red blood cells. Hemoglobin is a protein in red cells that carries oxygen across the body. A point mutation in the β-globin gene changes the genetic code. A person that has two defective copies of hemoglobin gene usually suffers from the effects of sickle cell disease. Patients with the disease suffer from poor oxygen delivery to tissue; this results in joint pain and other body pains. Sickle cell disease is inherited which means this disease is passed by genes from parents to child. It is not contagious. There is different forms of sickle cell disease some are hemoglobin SS, hemoglobin SC, hemoglobin SD, hemoglobin SE but hemoglobin SC and hemoglobin Sβ thalassemia are two common forms. Sickle cell disease is most common among people whose ancestors come from Africa, Greece, Turkey, Italy, India and parts of Caribbean2. Sickle cell disease is a life long illness, but with improving technology and science diagnosis- it has made its improvements. As of right now the only cure for sickle cell disease is hematopoietic stem cell transplantation also known as HSCT. However, a compatible donor is required for a good chance