Symptoms And Treatment Of A Blood Disorder By Inherited Deficiency Of Haemoglobin, A Major Constituent Of Erythrocytes

Hemochromatosis is hereditary and the most common genetic disease in the U.S. This genetic disease is passed on

Sickle cell: One of the first inherited diseases to be unraveled at the level of DNA was sickle-cell anemia which is defined as abnormal, crescent-shaped red blood cells that results from a single change in the amino acid sequence of the cell's hemoglobin, which causes the cell to contort, especially under low-oxygen conditions. (medical dictionary, 2017) Also, called drepanocyte, meniscocyte. Also, this blood disorder mostly affects Africans and natives of the Mediterranean region are those who are affected by malaria. A single mutation in the gene for the blood protein hemoglobin can affect its ability to transport oxygen around the body. People who inherit two copies of the same mutation, one from each parent, have severe symptoms.

Sharon Moalem discusses is hemochromatosis. Hemochromatosis is a disorder that disrupts iron metabolization, by absorbing excess iron instead of passing it through the body, causing iron to build up in the organs, especially the liver, heart and pancreas. The symptoms are joint pain, fatigue, and weakness. It was first described by Armand Trousseau in 1865, but is thought to have originated with the Vikings and spread throughout Northern and Western Europe. The genetic variant for hemochromatosis is very common among people of Western European descent, but only one in two hundred of those people have the disease with all of the assorted symptoms. Hemochromatosis can be diagnosed through blood and genetic tests, and it can be treated through the ancient practice of phlebotomy, or bloodletting. This lowers the amount of iron in the blood, and in the body, to safe levels. But although it is easily treatable, if left unchecked, hemochromatosis can lead to serious complications. As Dr. Moalem says, “Unchecked, hemochromatosis can lead to liver failure, heart failure, diabetes, arthritis, infertility, psychiatric disorders, and even cancer. Unchecked, hemochromatosis will lead to death.” Thus, before the days of genetic and blood testing, hemochromatosis was a very dangerous disease, and often caused death in middle age. It is here that Dr. Moalem raises the question: if hemochromatosis was so deadly, why was it passed down for so many generations? Unless it provided our ancestors with an advantage, such a damaging disease would not have remained in their gene

According to the information of Nikoleta’s case, Cooley’s anemia has features that the beta proteins of hemoglobin do not function properly. This is caused my mutations in the beta chain of the hemoglobin molecule. The symptoms of Cooley’s anemia matches the symptoms of Nikoleta. The main reason why giving a high iron formula did the opposite is that the constant buildup of iron causes the symptoms to grow worse, and can even result in heart failure in the future. Cooley’s anemia decrease the red blood cell’s ability to deliver oxygen to certain tissues. The number of red blood cells are high, however, the number of hemoglobin is very

Hemochromatosis, also called iron overload, is a disease when the body absorbs too much iron from the food we eat and most often affects the liver, heart, pancreas, and skin. It is usually caused by genes in the body that mutate keeping them from working. Some signs and symptoms of this disease are weakness, joint pain, low libido, and/or if the disease has progressed to far diabetes or heart failure. Hemochromatosis is one of the more difficult diseases to diagnose because many symptoms are nonspecific and usually many people don’t show as many symptoms except elevated iron levels in their blood. Most will be treated with blood transfusions until the normal level of iron is reached. If diagnosed early the prognosis is excellent with possible checkups or phlebotomies.

This happens when an affected parent has one recessive gene and one dominant gene whereas the other has two recessive genes, which allows two children to get two recessive genes meaning they will not be affected. Whereas the other two have one dominant gene meaning they will be affected by the disease.

A doctorate holder in human physiology, neurogenetics and evolutionary medicine, Dr.Sharon Moalem makes connections between modern day diseases and how they were necessary for the survival of our ancestors. In his book Survival of the Sickest, Moalem makes many claims, but they are all hypotheses. One of Moalem’s firsts claims is that hemochromatosis, a fairly rare disease today unless one is of Western European descent, is a disease that can cause many complications within the human body due to an iron excess. Moalem claims that hemochromatosis is still in the gene pool and is very common to people of European descent because of the bubonic plague. The plague, a very fatal disease that reared its head in Europe during the 14th century is

More than 50% of the world’s population lives in an area where Malaria is common. The first signs of malaria are fevers, chills, joint pain, vomiting, and anemia, and can lead to a coma or death. Scientist JBS Haldane once suggested that people with sickle cell anemia or thalassemia were naturally resistant to P. Falciparum, the malarial disease. G6PD is an even better naturally evolved protection against malaria. Researchers who studied the relationship of G6PD deficiency and malaria found that children with the G6PD-A- mutation had a resistance twice as strong as normal children to P. Falciparum. That’s because Malaria, like many other diseases, prefer “normal” healthy red blood cells rather than G6PD-deficient blood cells to multiply. Malaria is a delicate virus, and can only thrive is clean red blood cells. The G6PD deficient cells are not only less hospitable to the virus but die early which may disrupt the virus’s lifestyle. At one point in time people recognized that eating fava beans would reduce their body’s hospitability to Malaria, and thus evolved Favism disease which continues to serve the same purpose today. People who are only partially deficient (women) are much better off because not only do they get the malarial protection, but they also can ingest fava beans and medicine safely. This is why people of African and Mediterranean descent continue to develop Favism

At the age of two, district employee Michael Smith was told he was going to die within a decade.

There are three versions of congenital dyserythropoietic anemia, and they are classified by types, they all have different signs and symptoms and also have different genetic effects. CDA type I, ranges from severe to moderate. Most of the time, this type of anemia is diagnosed as a child or during adolescence. However, in some cases CDA type I may be detected even before birth during gestation. Individuals that have CDA type one often have Jaundice or yellowing of

But what does this mean, well first a mutation is an abnormality much in the way that cancer is an abnormal growth within the body. These are mutations, unfortunately we don’t get the same types of mutations that the X-Men have. Our body’s are made so that everything perfectly fits in each hole or socket, well red blood cells are normally round and smooth. Red blood cells are designed to be able to flow smoothly through blood vessels which is why they are smooth and round. Like mentioned earlier Sickle cell anemia is a mutation of the hemoglobin or the blood cells themselves. The blood cells stack on one another into long tube like structures. The cells become sickle shaped and become rigid. The sickling starts on the chromosome 11. While the cells are stacking up they are damaging vital organs such as the lungs and the heart. Everyone gets a copy of the hemoglobin gene from each parent. If both genes are carriers of the sickled trait, there will be high probability that the offspring will have Sickle cell anemia. Sickle cell is not contagious and cannot be caught, it is passed along genetically. Through research we have found that there are different types of the sickling disease. There is Hemoglobin SS (Sickle cell anemia), hemoglobin SC and hemoglobin sickle betathalassemia which is known as Mediterranean

Investigating haemoglobin (Hb) concentration in blood samples using the haemoglobincyanide method and in foetal haemoglobin samples

This paper is written about the disease Alpha Thalassemia and it affects from the cellular to how the organism is impacted. It will cover the basis of the disease including inheritance and symptoms. Then, how and where the mutation occurs that causes the disease. The paper will then discuss the protein that is involved in the disease and how the mutation affects the production of the protein. The production can either be still functioning, completely shut down, slowed, or part of the protein could still function while the other side does not. The impact of the mutation on the cellular level and the organ system if impacted will be discussed. After this, how the mutation will affect daily life and if the organism can survive to live a normal lifespan will be talked about. Finally the paper will end on the future of the disease and treatments.

Beta thalassemia is a genetic disorder in which the gene for the production of beta globin chain is defective. The name thalassemia is derived from a combination of two Greek words: thalassa meaning the sea, i.e. the Mediterranean, and anaemia (“weak blood”). Therefore it is also known as Mediterranean anemia. Another name for beta-thalassemia is Cooley’s anemia, named after Prof. Thomas Cooley, a pediatrician in the USA who first described the clinical characteristics of this disorder in patients of Italian origin in 1925.

This essay will give a detailed explanation of the structures and biologically roles of Myoglobin and haemoglobin. It will also show the similarities and differences between their roles and structures within the human body. Furthermore there will be a detailed explanation of sickle cell anaemia and their characteristic. I will also be including various images to help describing my essay; this will allow me to help explain the various differences and similarities between the two topics.