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Sickle cell anemia

By tierralayne2 Dec 01, 2013 1235 Words
Sickle cell anemia (SCA) also known as sickle-cell disease (SDA) is the most common genetic blood disorder that most people know far to little about. It is blood disease identified by abnormal looking red blood cells (Primary Health Care 2012). Normal blood cells tend to be soft and round and travel to through the body smoothly as for sickle cells, on the other hand, look like a hard falcate moon shape (Primary Health Care 2012). These abnormal red blood cells result in a difficult blood flow of oxygen throughout the body (Connecticut Department of Public Health 2008). This disease can be life threatening. Sickle cells can cause clogged blood vessels and result in damaged organs or even a stroke. In addition, sickle cells are more susceptible to rupturing and lead to a person being tired or fatigued, known as anemia (Primary Health Care 2012).

"Peculiar elongated and sickle-shaped," quoted by Ernest Edward Irons in 1904, was how sickle cell anemia was first described (Herrick 2001). Intern Ernest Irons had be examining patient Walter Clement Noel at the Presbyterian Hospital under physician James Bryan Herrick (The Sickle Cell Association of New Jersey, Inc 2010). Ernest noticed the red blood cells to be usually shaped. Later in 1910, Dr. Herrick became the first to publish a document on sickle cell called the Archives of Internal Medicine (The Sickle Cell Association of New Jersey, Inc 2010).

Nearly thirty years later, in November 1949, chemist Linus Pauling and assistants became the first to demonstrate how sickle cell disease occurs in abnormally red blood cells (Leslie 2005). Linus published a paper named Sickle Cell Anemia, a Molecular Disease, describing how patients with SCD, that their hemoglobin had a dissimilar electrical charge than that of a normal healthy persons (Strasser 1999). In his paper he explained the cause of sickle cell disease and that it was from a molecular mutation in a protein and an inherited gene (Leslie 2005). He also, discovered that majority of people who had inherited SCA were from an African decent (Strasser 1999). In 1956, Pauling supported the idea that "man is simply a collection of molecules" and "can be understood in terms of molecules" (Strasser 1999). Linus and his colleague's findings were the first historical discovery of how a genetic disease was tied to a mutation of a specific gene (The Sickle Cell Association of New Jersey, Inc 2010). Through his discoveries set the beginning of many speeches and papers to come. Linus Pauling and assistants discoveries set the foundation of what today's scientists are finding.

Well-known and significant figure of sickle cell anemia in more recent years is Dr. Charles F. Whitten (The Sickle Cell Association of New Jersey, Inc 2010). Dr. Whitten in the early 1970's saw that families and people with SCD were lacking services. To help the people with sickle cell anemia and through his own efforts, the Sickle Cell Disease Association of America (SCDAA) was founded (The Sickle Cell Association of New Jersey, Inc 2010). In 2010, the Registry and Surveillance System for Hemoglobinopathies (RuSH) was first started to collect data on population-based people with SCD (Center of Disease Prevention and Control CDC 2012). Currently this project still assists in determining how many people are infected with SCA and increases knowledge and awareness of sickle cell anemia.

Today, current research has found SCA to be a gene derived from four main separate mutations events, one from Saudi Arabi and three in Africa (Illinois Department of Public Health 2007). These genes have been found to be from 3,000 to 6,000 generations ago, nearly 150,000 years ago (The Sickle Cell Association of New Jersey, Inc 2010). Research has also found that the most common types of sickle cell disease are HbSS, HbSC and HbS beta Thalassemia (Illinois Department of Public Health 2007). People with HbSS form of SCD inherit two sickle cell genes "S", one from each parent, this is the most serve case is SCD (NIH Medline Plus). People with HbSC inherit a sickle cell gene "S" from one parent and from the other parent a gene for an abnormal hemoglobin called "C", this is a milder case of SCD (NIH Medline Plus 2011). In people with HbS beta Thalassemia, forms inherit one sickle cell gene "S" from one parent and one gene for beta thalassemia, (another type of anemia) this case can have two forms, "0" or "+", "0" being the more severer form (NIH Medline Plus). Rare forms of SCD include HbSO, HbSD and HbSE (Illinois Department of Public Health 2007).

This blood disorder, like skin or eye color is hereditary (Leslie 2005). Though sickle cell anemia is a hereditary trait, does not mean a person will have the disease (Connecticut Department of Public Health 2008). A person can only get sickle cell disease if both parents carry the gene and/or can later develop in life (Primary Health Care 2012). Individuals with SCA traits do not usually have any medically problems and carry out normal everyday lives (Illinois Department of Public Health 2007). A person with this gene does not typically "feel" the symptoms like other diseases such as Chromes (Connecticut Department of Public Health 2008).

SCD affects almost all races, especially decedents from Africa, India, the Middle East, the Caribbean, Central and South America, and Mediterranean (Connecticut Department of Public Health 2008). This disease is yearly estimated to affect more than 75,000 Americans and millions of people worldwide, primary of those of an African decent; 1 out of every 12 African-Americans carry SCA trait (Illinois Department of Public Health 2007). Over 1,000 babies are born each year in America with this disease; worldwide there are 300,000 babies with this disease (World Health Organization 2011). SCD occurs among 1 out of every 36,000 Hispanic-American and 1 out of every 500 African-American adults in America (Center of Disease Prevention and Control CDC 2012). 1999 through the year 2002, morality rate for African-American children ages 0-4 (with SCD) was 42%, in 1983-1986 was as high as 68% (Center of Disease Prevention and Control CDC 2012).

Individuals who both carry SCA gene and are planning on having a baby are recommend seeking a medical doctors advice. Both parents carrying the gene set risk of their child having a 25% of sickle cell disease (Primary Health Care 2012). Newborns that have been diagnosed with the disease are given antibiotics for treatment and to avoid infections and may also be given vaccinations (National Heart and Blood Institute People Science Health 2011). Parents should be educated about the disease and how to manage it.

In spite of the many advancements and treatments given nowadays, there is no cure for sickle cell disease, but can be treated (Strassar 2000). Treatment for adults with minor symptoms, include over the counter pain medication, such as acetaminophen (Tylenol) or an anti-inflammatory drug such as ibuprofen. A heating pad, rest and lots of fluids are also advised. For more severe cases, may be seeking help at a day treatment center, hospital or even the emergency room (National Heart and Blood Institute People Science Health 2011). Only for a small number of people, blood and marrow stem cell transplants may offer a cure (National Heart and Blood Institute People Science Health 2011).

Sickle cell anemia is a blood disorder that far too many people know little about and should be educated on. Over the past 100 years, doctors and chemists have come to the discoveries of this genetic blood disorder through many observations and experiments. We now know how it is caused, how it affects the human body, how it's an inherited gene and what treatments to take in case of having the disease. Sickle cell anemia, like most, varies from one person to the next. It is important to know about this

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