Thalassemia Is A Disorder That Affects The Blood Of Those Affected With The Disease Essay

Sickle Cell Anemia is a very serious disorder and people suffer from it every day. It is a genetic disorder that causes the hemoglobin in the red blood cell to distort and form into a sickle like shape. The name comes from the shape of the blood cell after it is mutated. A person who has sickle cell anemia got it from inheriting from the parents. It is the most common inherited disorder in the United States. It is also has four other names this disorder can go by HbS, Hemoglobin S Disease, SCD, and Sickle Cell .(https://ghr.nlm.nih.gov)the blood cell is formed wrong turning it into a sickle or crescent shape. Sickle cell is only a disorder. It can also be treated a lot of different ways.

This mutation paper is to give information on the Sickle Cell disease. This is a negative disease to have because the Sickle Cell Disease decreases the health of the person that has the disease and limits what they can and cannot do. Sickle Cell Disease is a red blood cell disease that causes ab normal hemoglobin to from in the veins. Hemoglobin is the protein that carries oxygen throughout the body to help with the respiratory system. The cause of the genetic mutation is inheritance or getting the disease from the parents the disease is found on chromosome 13 while the hemoglobin is still in beta phase on gene HB A. The disease typically shows symptoms within the first 5 to 6 months of birth and being diagnosed with Sickle Cell Disease. The symptoms include painful swelling on the hands and feet, and Jaundice, which causes a white color to form under the eyes, and turns the skin color yellow.

Hemochromatosis is when there is excess iron in the body. It is a genetic disorder that is passed down each generation and is inherited by the offspring. Iron overload directly affects the circulatory system but eventually the complications can affect the whole body and many major organs. In addition, hemochromatosis can show no symptoms but the body sometimes shows

They are classified according to different mutations in the hemoglobin genes. The four main types are: Hemoglobin SS (HbSS), Hemoglobin SC (HbSC), Hemoglobin SB+ thalassemia (HbSB+), and Hemoglobin Beta- Zero thalassemia (HbB0). The most severe of these is the Hemoglobin Beta Zero. Beta thalassemia is classified into two kinds depending on the harshness of their symptoms: thalassemia major (also known as Cooley's anemia) and thalassemia intermedia. Of the two types, thalassemia major is most severe. (Mohamed PhD & Boskey PhD, 2012)

Methemoglobinemia is a hemoglobinopathy where the concentration of methemoglobin in the blood is more than 1% of the total hemoglobin [3]. Normal hemoglobin has a reduced ferrous iron (Fe 2+) while methemoglobin has an oxidized ferric iron (Fe 3+). The change in valence prevents methemoglobin from being able to carry oxygen [4, 9]. There are mechanisms in place to reduce the amount of methemoglobin in the blood [2]. Cytochrome b5-Methemoglobin reductase and nicotinamide adenine dinucleotide phosphate (NADPH) methemoglobin reductase enzymes are responsible for reducing the amount of methemoglobin in the blood [9].

cell affects the beta-goblin subunit and is given the name HBB gene. This gene mutation causes in a change in the beta-goblin structure by replacing glutamic acid with valine in the sixth position in the polypeptide chain. This gene is found on chromosome 11. This change results in an abnormal version of the beta-goblin which is called haemoglobin S (HbS).

Sickle Cell Trait hereditary pattern is autosomal recessive. Meaning two copies of Sickle Cell Trait must be present for the disease to be expressed. People who inherited a single copy of Sickle Cell Trait express no disease and live normal lives. Both copies of Sickle Cell Trait cause a SNP mutation in the Hemoglobin Beta Gene, located on chromosome 11q15. A single thymine molecule gets replaced by a adenine molecule. This single molecule mutation causes the person to produce mutated Beta-Globin. Beta-Globin is an essential piece of of the protein Hemoglobin, a single Hemoglobin protein is comprised of two Beta-Globins and two Alpha

There was a ratio of 4:1 male-to female for the development of the disease. Important to note was that it was reported that the authors cannot give any real explanation for the male preponderance. More specifically, genetic analysis showed the patient to be heterozygous and have a single-nucleotide mutation at codon 41A>G. This mutation resulted the amino acid asparagine to be switched out with serine. Furthermore, according to a few prediction programs noted within the article it was shown that this substitution of serine could prove damaging. In more detail, the aberrant splicing mentioned before was shown to cause an 8 base pair long deletion within the shwachman-diamond-bodian syndrome gene.

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 to its pattern of inheritance, where a heterozygote advantage occurs. As the genetic disorder is incompletely recessive, a heterozygote individual will have a mixed phenotype. Normal function of red blood cells will occur, but there will also be

.What does the map of the prevalence of hemoglobin disorders worldwide indicate about the disease?

A genetic disorder caused by the abnormal gene for hemoglobin S is called sickle cell anemia. Only replace that take place in glutamic acid is to fill in for valine as the sixth codon of the hemoglobin protein, which alter declines the hemoglobin’s ability transform oxygen throughout your body. The human body needs oxygen in order to function when we eat food and liquid for energy even including muscles, repairs our cells, feeds our brain, breath and nerves. Normal cells are described as round, red, flexible and travel easily throughout your blood vessels. Sickle cell anemia describes a red blood cell that has inflexible, tacky, and create like a crescent moons not like the normal red cells. It tends to slow down or block the blood flows while

Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body. It is a type of sickle cell disease. Affected people have a different change (mutation) in each copy of their HBB gene: one that causes red blood cells to form a "sickle" or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can

With Sickle Cell Trait you also inherit one normal hemoglobin and one abnormal hemoglobin (How). An abnormal hemoglobin is the sickle shaped hemoglobin. However, with Sickle Cell Trait you can either be a carrier, or have the sickle cell disease, which occurs when a person has two genes with a sickle hemoglobin (How Sickle). With Sickle Cell Trait you may carry a serious condition for the Sickle Cell Disease (Sickle Cell Trait). Some of you may know that the Sickle Cell Trait is a benign condition and regards a hemoglobin genotype (Sickle Cell Trait Wikipedia). Sickle Cell Trait describes the abnormal allele on the hemoglobin beta gene, which is the heterozygous witch means they are different and have a fifty, fifty chance (Sickle Cell Trait Wikipedia The). Seeing the word hemoglobin in this paragraph you may ask what is a hemoglobin? A hemoglobin is a protein in the erythrocytes that transport oxygen throughout the body

Sickle Cell Anemia or (SCD) is the most common genetic disorder across the entire world it is an inherited genetic condition giving to you by both your mother and father that affects your hemoglobin. There is a mutation in the gene that tells your body to make hemoglobin (a red iron rich compound that gives blood its red color). There are over 600 million hemoglobin molecules in each red blood cell (Brown, M. (2012)). The purpose of hemoglobin is allow red blood cells to carry carbon dioxide, and oxygen from your lungs to all parts of the body. People with sickle cell disease inherit the s gene from abnormal hemoglobin from both parents, you usually find out you have this disease at birth. A blood test is giving to all newborns to look for the s gene known as the sickle cell gene.

Iron overload is the major cause of morbidity for thalassemia patients. Even non-transfused patients develop secondary iron overload, due to increased absorption of dietary iron. Iron overload is a leading cause of mortality and organ