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Sickle Cell Disease

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Andrea Wilcox

on 29 June 2014

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Transcript of Sickle Cell Disease

photo (cc) Malte Sörensen @ flickr Who Discovered it? In 1910, Dr. James B. Herrick published a paper in a medical journal about the “sickle shaped cells”.
The discovery was made after 20 year old dental student Walter Clement Noel from the island of Grenada came to Dr. Herrick complaining about pain episodes and symptoms of anemia.
Because Dr. Herrick was a cardiologist, he was not very interested in this case at first, and set his intern Dr. Ernest Irons on it.
Dr. Irons examined the blood under
the microscope, he saw the red
blood cells and described them
as “having the shape of a sickle”. Sickle Cell Disease Works Cited http://www.theoncologyinstitute.com/uploaded/Sickle%20Cell%20Anemia/image003.gif
http://www.stylishschooling.com/storage/sickle-cell.jpeg?__SQUARESPACE_CACHEVERSION=135309991793http://www.stylishschooling.com/storage/sickle-cell.jpeg?__SQUARESPACE_CACHEVERSION=13530999179377 What is it? It is an inherited recessive disorder, so both parents must have at least the trait.
The cell becomes sickle shaped.
The cell has a disorder with the hemoglobin, and loses oxygen in different parts of the body. Then the hemoglobin begins to stick together to form the sickle shape. In 1927, Hahn and Gillespie discovered that red blood cells from persons with the disease could be made to sickle by removing oxygen. This was exciting because red cells are the oxygen transporters of the body. The trouble was, that there were people –often relatives of the patient – whose red cells had this trait of sickling
when deprived of oxygen but who had no disease. This condition became known as “sickle trait”. In 1949, two articles appeared independently showing conclusively that SCD was inherited and that people with sickle trait were heterozygous (carriers or AS) for the gene whereas people with the disease were homozygous – i.e., had a double dose of the gene (SS). One was published by a military doctor in what was then known as Portuguese East Africa (now Mozambique) named
Col. E. A. Beet.
The other was by Dr.
James V. Neel, Chairman
and founder of the
Department of Human
Genetics at the University
of Michigan. Two years later, in 1951, the famous Nobel Prize-winning chemist, Dr. Linus Pauling and his colleague Dr. Harvey Itano, discovered that the red, oxygen-carrying protein called “hemoglobin” had a different chemical structure in persons with SCD.
This led Dr. Pauling to coin the term “molecular disease” for disorders that resulted from proteins with abnormal chemical structures. Today, thousands of such diseases are known but in 1951, SCD was the first.
The details of the abnormality were worked out by Dr. Vernon Ingram in 1956. Signs and Symptoms Related to Anemia
•Shortness of breath
•Coldness in the hands and feet
•Paler than normal skin or mucous membranes (the tissue that lines your nose, mouth, and other organs and body cavities)
•Jaundice (a yellowish color of the skin or whites of the eyes)
Related to Pain
Sudden pain throughout the body, known as a sickle cell crisis. Often affect the bones, lungs, abdomen, and joints.
The pain usually lasts from hours to as long as a week or more
Chronic pain Sickle Cell Crisis These crises occur when sickled red blood cells block blood flow to the limbs and organs. This can cause pain and organ damage.
The exact cause is often not known for sure, and there can be several factors involved.
Almost all people who have sickle cell anemia have painful crises at some point in their lives. Some have these crises less than once a year. Others may have crises once a month or more. Repeated crises can damage the bones, kidneys, lungs, eyes, heart, and liver.
This type of damage happens more often in adults than in children.
The risk of a sickle cell crisis increases if you're dehydrated
Painful crises are the leading cause of emergency room visits and hospital stays for people who have sickle cell anemia. Diagnosis A simple blood test
Newborns are now tested.
Athletes in all divisions are tested. NATA The consensus of the task force, spearheaded by NATA, is as follows:

1. Athletes with sickle cell trait can participate in all sports.
2. Red blood cells can sickle during intense exertion, blocking blood
vessels and posing a grave risk for athletes with sickle cell trait.
3. Screening and simple precautions may prevent deaths and help
the athlete with sickle cell trait thrive in his or her chosen sport.
4. Efforts to document newborn screening results should be made during
the pre-participation exam.
5. In the absence of newborn screening results, institutions should
carefully weigh the decision to screen based on the potential to provide
key clinical information and targeted education that may save lives.
6. Irrespective of screening, institutions should educate staff,
coaches, and athletes on the potentially lethal nature of this

NATA...continued 7. Education and precautions work best when targeted at those athletes who need it most; therefore, institutions should carefully weigh this factor in deciding whether to screen. All told, the case for screening is strong.

In the event of a sickling collapse, athletic department staff, coaches and medical staff should treat it as a medical emergency by doing the following:
Check vital signs.
Administer high-flow oxygen, if available, with a non-rebreather face mask.
Cool the athlete, if necessary.
If the athlete appears to have slowed mental responses, or as vital signs decline, call 911, attach an AED, start an IV, and get the athlete to the hospital fast.
Tell the doctors to expect explosive rhabdomyolysis and grave metabolic complications.
Proactively prepare by having an Emergency Action Plan and appropriate emergency equipment for all practices and competitions. Types of SCD The most common,When a child inherits two substitution beta globin genes (the sickle cell gene) from both parents, the child has Sickle Cell Anemia (SS). Individuals with sickle cell anemia may acquire symptoms of sickle cell disease. Populations that have a high frequency of sickle cell anemia are those of African and Indian descents. Individuals with Sickle-Hemoglobin C Disease (SC) have a slightly different substitution in their beta globin genes that produces both hemoglobin C and hemoglobin S. Sickle-Hemoglobin C disease may cause similar symptoms as sickle cell anemia but less anemia due to a higher blood count level. Populations that have a high frequency of Sickle-Hemoglobin C disease are those of West African, Mediterranean and Middle Eastern descents Individuals with Sickle Beta Thalassemia (Sb) disease also contain substitutions in both beta globin genes. The severity of the disease varies according to the amount of normal beta globin produced. When no beta globin is produced, the symptoms are almost identical to sickle cell anemia, with severe cases needing chronic blood transfusions. Populations that have a high frequency of Sickle Beta Thalassemia are those of Mediterranean and Caribbean descents. Through research, hemoglobin D, which is a different substitution of the beta globin gene, has been found to interact with the sickle hemoglobin gene. Individuals with Sickle-Hemoglobin D disease (SD) have moderately severe anemia and occasional pain episodes. Populations that have a high frequency of Sickle-Hemoglobin D disease are those of Asian and Latin American descents. Sickle Cell Anemia Sickle-Hemoglobin C Disease: Sickle Beta Thalassemia Disease: Sickle-Hemoglobin D Disease: Treatment Blood transfusions
pain medication
oxygen therapy
Creates Hemoglobin F, or fetal hemoglobin, which is what newborns have. It helps to prevent the sickling of red blood cells
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