Mutations in Your Hemoglobin

As humans, we need many things to survive. We need oxygen, food, water, shelter as well as a list of other mental and psychological necessities. While we are in charge of providing our bodies with the components it needs to survive, it can handle some of it on its own. Our blood cells help to carry oxygen to various parts of our body, as well as iron and proteins. Though it is uncommon, sometimes the genes that contribute to our blood cells mutate resulting in the misproduction of our blood cells.

A century and a decade ago, the first cases of this mutation appeared. Because of its oddly shaped abnormality, they gave it the name Sickle Cell Anemia. Throughout the years, we have increased our knowledge of this genetic disease, even trying to find cures. Unfortunately, there have been no solutions discovered yet. Sickle Cell Anemia was first noticed in 1910 and has since then become more common, and is easily recognizable by its abnormal shape, but even after 110 years, there have not been any 100% percent successful cures.

The discovery of sickle cell anemia in 1910 led to the first observations of this new disease. The first cases showed up in African Americans, dubbing sickle cell anemia the ‘black disease.’ Doctors would later learn that African Americans have a higher chance of sickle cell, making the cases more regular in African Americans. With the identification of the crescent or sickle-shaped cell, doctors gave it the name ‘Sickle Cell Anemia.’ The shape made in the cells was due to the incredibly low levels of oxygen and lower levels of water than most cells.

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In the year 1958, a scientist named Vernon Ingram discovered that a Sickle Cell Anemia was the effect of a frameshift mutation. Despite this knowledge, doctors did not start searching for a cure until the 1980s. Some of these cures include Penicillin Prophylaxis for children along with screening programs. Though these solutions provide some ease for Sickle Cell patients, they are not permanent cures, nor can they solve the genetic mutation.

The general understanding of Sickle Cell Anemia consists of low oxygen levels and sickle-shaped cells. The truth is that there is a massive amount of information that this does not cover. Sickle Cell Anemia is a frameshift mutation that occurs in the HBB gene, which is responsible for carrying instruction for the production of hemoglobin. The mutation results in a lack of oxygen and hydration in red blood cells. Without oxygen, the red blood cells become weak and stiff. Their flexibility and shape becomes distorted. The disfigured form of the cell stops it from holding as much oxygen as a healthy blood cell. Due to this factor, sickle cells only live for about ten to twenty days, whereas a healthy blood cell has a lifespan of 120 days.

At birth, the signs of Sickle Cell are not noticeable in the slightest. For the first five months of a child’s life, they would display no symptoms of the disease. The patient could experience fatigue and drowsiness due to the lack of oxygen. Along with that, the reduced oxygen content can cause failure to grow. The stiff shape of the blood cell that causes this low amount of oxygen can also create numerous blood clots around the body. Places like your eyes and your brain are at a higher risk of blockage. The blood clots can cause blindness, strokes, and damage to your organs. The blood cells tear and warp the tissue of your organs. In turn, this can lead to infections and other diseases. Another symptom that someone with Sickle Cell Anemia might encounter is pain crises. When the sickle cells create a blockage in the patient’s joints, abdomen, and chest, they can experience episodes in which they are in horrible pain. Various other symptoms and signs accompany the pain crises such as Acute Chest syndrome, gallstones, leg ulcers, and a higher risk of miscarriage in pregnant women.

The sickle cell shape, at first, may not be observed as a problem. That is until you notice the effects that it brings on the human body. Healthy red blood cells are a circular shape, which allows them to travel through bloodstreams with ease. The crescent-like form that sickle cells take on does quite the reverse. Inside the blood cells is a protein called hemoglobin. Hemoglobin helps carry oxygen. Because of the mutation, the hemoglobin will become stiff and binds together. The rigid cells are unable to bend and move through bloodstreams like healthy red cells, so they often get caught, causing blood clots. The abnormal shape of sickle cells can lead to blindness, strokes, ulcers, and more potentially dangerous problems.

Sickle Cell Anemia, as previously stated before, is the result of a frameshift mutation in the HBB gene, which is responsible for the production of hemoglobin. The HBB gene consists of two chains of information: the alpha chain and the beta chain, and inside the beta chain, part of the genetic sequence switches from Guanine, Adenine, Guanine (GAG), to Guanine, Thymine, Guanine (GTG.) The mutation changes one of the amino acids inside the beta chain from valine to a glutamic acid, which makes the blood cell stiff and inflexible. The inflexible hemoglobin cannot release and hold as much oxygen as it should. This mutated hemoglobin is now called Hemoglobin S. This is unlike normal hemoglobin, which is Hemoglobin A.

Because the disease is genetic, no cures have a 100% success rate. Specific treatments, such as medication, can help relieve pain and decrease the chances of strokes and blood clots. However, because Sickle Cell Anemia is a genetic disease, these treatments will not expel the disorder from your body. Another thing that will help with the anemia is blood transfusions. The blood transfusion will help replace the red blood cells that die off before the body can replenish them. Though the medicinal treatments will not be a permanent solution, some ideas, such as genetic editors, could rid patients of their sickle cell disease for good. CRISPR is an editing technique that can fix gene mutations by rewriting them. Before they can begin using the system on humans, doctors have to make sure that CRISPR will work without fail. They have been using mice as test subjects to see if it will fully cure Sickle Cell Anemia. ‘Only a fraction of the treated cells successfully ended up with the right edits; and only 2 percent to 6 percent of the corrected cells retained the edits after 16 weeks once administered to the mice.’ (Grib, TheScientist). The treatment for Sickle Cell Anemia can range from pain medication to gene-editing techniques. However, scientists have yet to discover a successful cure.

In conclusion, Sickle Cell Anemia, a genetic disorder, was discovered in the early 1900s. Since then, scientists, like Ingram, have learned much about this disease. Some of the information that they have found are its symptoms, mutations, overall genetic makeup, and its abnormal shape. The disease itself is a homozygous recessive disorder. This means that the carriers need to have two recessive genes to receive the mutation. Because of its shape, sickle cells can form blood clots, which can cause strokes, blindness, and pain crises. Sickle Cell Anemia was first noticed in 1910 and has since then become more common, and is easily recognizable by its abnormal shape, but even after 110 years, there have not been any 100% percent successful cures. However, with time, scientists may finally be able to perfect their treatments.