Sickle Cell Anaemia And Red Blood Cells Biology Essay

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Red blood cells contain an iron-rich protein called Haemoglobin. Haemoglobin is the main ingredient in red blood cells. Sickle cell anaemia is a blood syndrome that affects haemoglobin in the RBCs. It needed to bring oxygen from the lungs to the hold body. Normal red blood cells have haemoglobin A. Haemoglobin A keep red blood cells soft, flexible and round - look like a donut shape. Also, it allows them to flow easily through small blood vessels. On the other hand, people with sickle cell disease have haemoglobin S in their red blood cells. Under unsure conditions, haemoglobin S causes blood cells to become hard and form a sickle or half-moon shape or banana shape. Un-normal red blood cells are also less flexible than normal red blood cells. Sickle shaped haemoglobin can block small blood vessels causing a lot of problems such as, pain, organ damage, or stroke.

Looking at the figure A, it shows that normal red blood cells (RBCs) flowing freely in a blood vessel. The inset image shows a cross-section of a normal red blood cell with normal hemoglobin.

In figure B, we can see the abnormal sickled red blood cells blocking blood flow in a blood vessel. The inset image shows a cross-section of a sickle cell with abnormal SS hemoglobin forming abnormal strands.A professor of medicine called James B. Herrick (1861-1954), whose intern Ernest Edward Irons (1877-1959) found "peculiar elongated and sickle-shaped" cells in the blood of Walter Clement Noel, a 20 years old university student in 1904 (Chicago ,USA) . He was suffering from this disease (sickle cell anaemia) from then till the rest of his life.

Nowadays, we call this disease with lots kind of name like HbS disease or Sickling disorder due to homolog S or Haemoglobin SS disease and more.

Sickle cell disease largely affects people in Mediterranean, African, Middle Eastern, and Asian Indian ancestry. Worldwide, it has been estimated that one in every 250,000 babies is born with sickle cell disease. One in 12 African American has sickle cell trait. One in every 1000-1400 Latino births are affected. In the USA, about 1 of 500 American children born will have sickle cells. Also, in the UK, 1 baby in every 2000 is born with this condition as well.

Body

Sickle cell anaemia occurs because an abnormal form of haemoglobin SS disease (HbS) is produced in the blood vessels. This disease is likely to clump together, making RBCs sticky, stiff, fragile and causing them to form into a curved, sickle shape like half-moon shape or banana shape.

Normal red blood cell (RBCs) containing HbS that it can go back and forth between being shaped normally and being sickle shaped until they eventually become sickle shaped permanently. So instead of moving through the bloodstream without difficulty, these sickle cells can block blood vessels because they are not flexible and deprive the body's tissues and organs of the oxygen (O2) they need to stay healthy.

Not like normal RBCs that last about 3 to 4 months in the blood vessels. Sickle cells break down after only about 10 to 20 days, which naturally causes anaemia. Anaemia is what happens when the body's number of red blood cells (or amount of haemoglobin) falls underneath normal (males is between 4.7-6.1 million red blood cells per micro liter and for females the range is around 4.2-5.4 million cells per micro liter of blood). People who are anaemic often feel weak and feel tire more easily.

Normal Red Blood Cell

Sickle Cell Red Blood Cell

DNA sequence

GAC TGA GGA CTC

GAC TGA GGA CAC

Complementary RNA sequence

CUG ACU CCU GAG

CUG ACU CCU GUG

Amino acid sequence

leu --- thr --- pro --- glu

leu --- thr --- pro --- val

Phenotype of Red Blood Cell

Looking at the symptoms and signs of the disease, people with sickling disorder due to homolog S may develop Jaundice - known as icterus, is a term used to describe a yellowish tinged to the skin and the white part of the eye that is caused by hyperbilirubinemia (an excess of bilirubin in the blood).

People with sickle cell anaemia also may have short period or long period of severe pain in their chest, arms, legs, stomach or other parts of their body depending on the effect of the disease. The periods of pain are regularly brought up pain crises which vary in their severity, how often they happen and how long they last for. Though one person may have only one sickle cell pain crisis a year or others may have them more often. The pain can be brief or last hours, days, or even weeks. Sometimes pain can be severe enough to require treatment in the hospital. This is caused by sickle cells blocking the blood flow through the small blood vessels in those areas. Feeling tired and having trouble fighting with the infections are also common among those people with sickle cell anaemia. The reasons why people finding are hard to fight with the infection because the disease can damage the spleen, an organ that helps fight infections. Also, sickle-shaped red blood cells get stuck in the narrow blood vessels and they block the flow of blood and the results in a vaso-occlusive crisis. The results of the disease are: hand and foot syndrome; pain that occurs unpredictably in anybody organ or joint; eye problems; leg ulcers; fatigue, paleness, shortness of breath; cholelithiasus and cholecystitis. The child with Haemoglobin SS disease may grow more slowly and reach puberty later than other teenagers the same age as them.

First, hand and foot syndrome is a common in people with sickle cell disease. The blockage of small blood vessels causes painful swelling of the hand and feet, due to the death of the bone area. This is maybe the first sign of sickle cell disease. Next, the other affection is pain that occurs randomly in anybody organ or joint (arms, legs, chest and abdomen). A long-suffering may experience pain wherever sickled blood cells block oxygen flow to tissues. Some patients have painful period time less than once a year, and some have lots, like 15 or more than that in a year. For especially on going pain, the long suffering may be hospitalized and treated with painkillers and intravenous fluids. Pain is the principal symptom of sickle cell anaemia in both children and adults. Third, eye problems are retinas can get worse when it does not get enough nourishment from circulating red blood cells. It can be serious enough to cause blindness. Few others are leg ulcers, shortness of breath; Cholelithiasus (gallstones) and cholecystitis. People with sickle cell anaemia have higher risk of certain infections and stroke as well as a condition called acute chest syndrome, which is caused by inflammation, infection, or blockages of blood vessels in the lungs by the sickle cells.

Sickle cell anaemia is not contagious, so you can't catch it from someone else or pass it to another person like a cold or flu or any infection. People who have sickle cell anaemia have inherited two sickle cell genes, one from each parent (the mother and the father). A child who has inherited the sickle cell gene from only one parent will not develop the disease. However they will have sickle cell trait (Carrier). People who have sickle cell trait (SCT) don't have sickle cell anaemia and usually don't have any signs of the disorder, but then again they can pass the sickle cell gene on to their own children (their next generation). Looking at the picture beside, we can see that there is one unaffected "carrier" father (1 normal gene and 1 sickle cell gene) and one unaffected "carrier" mother (1 normal gene and 1 sickle cell gene). When they have children, the precents or chance of the child who doesn't have the disease is 1 in 4 chances (25%). The precents or chance of the children who have sickle cell trait (carrier) are 2 in 4 chances (50%). Last, the precents or chance of the child who has the disease is 1 in 4 chances (25%).

In the second picture (right hand side) there is one unaffected "carrier" father/mother (1 normal gene and 1 sickle cell gene) and there is 1 unaffected mother/father (2 normal genes). When they have children, the precents or chance of the child who don't have the disease is 2 in 4 chances (50%). On the other hand, the precents or chance of the child who have cell train are 2 in 4 chances (50%).

Because people with sickle cell trait don't have the disease, they may never find out that they carry the gene. That's why the doctor recommended that people who are not sure of their sickle cell status, they should ask their doctors about testing. So to identify sickle cell anaemia, doctors use a special blood test called "a haemoglobin electrophoresis" to look for sickle haemoglobin SS disease in a person's blood. About the haemoglobin electrophoresis blood test, it requires a few millilitres of blood from a vein. The test itself uses a method of determining the type and size of haemoglobin molecules in the blood. It is observing the rates of transit of these negatively-charged proteins in an electric field medium. So Jonathon Jackson of course should take this blood test because of his own health and benefit.

It is possible for some people to be ill enough to die from the disease (although most young people with sickle cell anaemia don't die). However, the doctors can provide treatments that help stop the problems from the disease. Special treatment depends on the type of anaemia that the person gets. Normally, sickle cell anaemia will require lifelong folic acid and penicillin twice daily to avoid and stop the infection. Treatment currently under investigation includes: hydroxyurea; bone marrow transplant; Gene therapy; dietary cyanate; analgesics; folic acid and penicillin

Hydroxyurea is an anticancer drug reduces the frequency of crises and avoids the need for transfusion. It is thought to work by boosting production of fetal haemoglobin, a protein normally made only by foetuses and newborns. The drug is still being monitored for side effect. Second, bone marrow transplant - this can help, but chances of finding a match are pretty low. Third, gene therapy is one approach is to engineer haemopoietic stem cells and implant them into the marrow; another is to turn off the defective gene while switching on the gene for fetal haemoglobin. Next, dietary cyanate- in the laboratory, cyanate and thiocyanate irreversibly inhibit sickling of red blood cells drawn from sickle cell anaemia patients.to the patient for a lifetime, as each new red blood cell created must be prevented from sickling at the time of creation. Cyanate also would be expelled via the urea of a patient every cycle of treatment. Other treatment is Analgesics, painful crises are treated symptomatically with oral and intravenous hydration and a plan of analgesics progressively stronger: pain management requires in the first time administration of paracetamol at regular intervals until the crisis has settled. For more severe crises, a subgroup of patients manages on NSAIDs (such as diclofenac or naproxen). At the last time, patients require opioids and only when the patients can't control the painful crisis require inpatient management for intravenous. Diphenhydramine is also an effective agent that is frequently prescribed by doctors in order to help control any itching associated with the use of opioids. Finally, folic acid and penicillin. Under closer observation by the paediatrician and the management by a haematologist they'll try to remain healthy. These patients will take a 1 mg dose of folic acid daily for life. From birth to five years of age, they will also have to take penicillin daily and they have to benefit from routine vaccination for H. influenza, S. pneumonia, and Neisseria meningitides due to the immature immune system. Another treatment being investigated is Senicapoc.

Some pain can be managed at home with pain medicines, rest, and extra fluids. But if the pain is especially strong, so they may need to go to the hospital to have a better treatment.

Many people with sickle cell anaemia occasionally need to get transfusions of healthy red blood cells to help carry the oxygen to their bodies more effectively. Some situation may need to transfusions regularly.

Scientists are researching ways to help people with sickle cell anaemia. There are quite a lot of new treatments, such as the drug hydroxyurea, have helped reduce painful crises and episodes of acute chest syndrome for adults and kids with sickle cell. Bone marrow transplant, a complex and risky procedure, is the only cure for sickle cell anaemia.

Scientists are also studying gene therapy as a treatment for sickle cell anaemia. One day, we are hoping that they may be able to stop the disease by changing or replacing the abnormal gene that causes it.

With the right protections, people with sickle cell disease can do most of the stuff other normal people can do. To stay as healthy as possible, they should eat a balanced, healthy diet and of course exercise is important for staying healthy too. Drinking plenty of fluids to avoid dehydration and get plenty of rest because they need it. It is very important that they must avoid alcohol, drugs, and smoking, which can make the sickle cell disease worse. Next, prevent serious infections by contact their doctor as soon as possible (when the illness symptoms start). Be sure to get any injections that the doctor recommends, and always call the doctor if they have a high fever because it is dangerous. They also need to avoid places with low oxygen. Finally, take medications, including folic acid supplements, as prescribed.

Conclusion

Based on Jonathan's genetic disorder and his situation, evaluate if genetic testing is a fair process when signs and symptoms of the genetic disorder may not be present.

Over all, I strongly disagree that the company has dismissed Jonathan from his job where he had worked faithfully for more than eight years. This is not right! They should help and support him, not ignore and fine him because he has the disease. The disease that he is caring is not his choice and is not his fault. He doesn't deserve to have that.

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