Case Study Sickle Cell Anemia

First patient, is 18 year old Sue Smith. Sue has a healthy history but has recently complained of a pounding headache, fever, tight neck, and is extremely lethargic. She rooms with her soccer teammate Jill who has not been feeling well either. Lymph, blood, and urine are collected for testing. Her DNA sequencing was used in a

These methods of genetic testing are accurate, as long as the genetic origin of the tested disease is known (Mahdieh & Rabbani, 2013), but their reliability is harmed by the fact that the results determine probability of diseases occurring (Holt, 2012). Even though a test accurately determines the presence of a given mutation, that mutation may only indicate a patient’s predisposition to developing symptoms. Since other genes or environmental factors may play a part in the tested disease, the results of testing aren’t entirely reliable for a conclusion of whether or not a patient will develop the disease.

Sickle cell anemia (SCA) is an inherited blood disease which causes normal, round, healthy red blood cells to transform into sickle-shaped cells. Normal red blood cells are flexible and can easily pass through capillaries to bring oxygen to different parts of the body. However, sickle cells are fragile, and can easily die, leading to anemia (red blood cell deficiency). SCA can also cause blood vessel occlusion (blockage of blood vessels), tissue infarctions (death due to lack of oxygen), bone, joint, and abdominal pain, yellow eyes and skin, pale skin, delayed growth, increased risk of infections, and damage to organs. The disease is passed on by autosomal recessive inheritance, which means both parents of a child must have the defective gene for the child to be affected. If only one gene is inherited, the victim becomes a carrier of the sickle cell trait, producing only some sickle cells with little or no symptoms. This means two people with the trait have a 25% chance of having a baby with sickle cell disease, 25% chance of them having no defects, and 50% chance of the baby becoming a carrier as well. When the gene is inherited, it mutates the beta (β) globin gene in chromosome 11, changing the hemoglobins produced using instructions from the gene from a healthy hemoglobin A (Hb A) to a mutated hemoglobin S (Hb S). Many tests can be done to check for sickle cell disease, the most common being an ordinary blood test, where the blood is examined for hemoglobin S. If the

Note: In the real scenario, the medical student would be handed test results and he/she would need to interpret them. Since there are 4 possible tests, we did not

The Sickle Cell gene needs to be inhered from both of the parents; otherwise the individual will only carry the Sickle Cell trait. If the sickle cell trait is carried by an individual they can be asymptomatic. This individual can, however, transfer the gene abnormality to any offspring that they have. Sickle Cell Anemia is the most common form of sickle cell disease. It is also the most severe form of the disease. One variation of sickle cell anemia is hemoglobin SC disease and is one of the more common variations. Many times it manifests with a lesser degree of hemolytic anemia (1).

Deletion/duplication analysis – This test detects exonic and whole gene deletions. The mutation detection frequency for this test is unknown.

Sickle cell is a blood disease. People with sickle cell anemia have crescent moon shaped blood cells that are hard and sticky. When the Sickle cells move through blood tubes, they can clog blood flow and break apart. This can cause main, damage, and a low blood count. The symptoms of the disease are not life threatening, however are not enjoyable. Sickle cell anemia can cause you to experience dizziness, headaches, and shortness of breath. Your skin may also turn more yellow or pale than it usually is. Sickle cell is an inherited disease. It is an unpreventable disease that you are born with. If you have a sickle cell gene, you do not have sickle cell, however your children have a 25% chance of having sickle cell anemia. This blood disorder can cause pain and discomfort but it is unlikely that your life will be in danger if you have the disease.

Sickle cell anemia (SCA) is an autosomal recessive genetic disorder. This missense mutation is characterized by mutant beta globin subunits that tend to stick together (Cummings, 2014). As a result, abnormally shaped red blood cells are produced by this disorder. The erythrocytes are sickle or crescent shaped. Sickling occurs under hypoxic conditions, in which there is insufficient supply of oxygen delivered throughout the body (Sun & Xia, 2013). In order to inherit this monogenic disease, one copy of the sickle globin gene from each parent must be passed on to the offspring (Ashley-Koch,

4. Please describe all the results (all important results). Tell me what the results were without any interpretation of what they actually mean.

Sickle cell disease is an inherited form of anemia. This means both parents must pass on the defective gene for a child to be affected. The gene is more common in families that come from Saudi Arabia, Africa, Mediterranean countries, India, the Caribbean islands, and North, South, and Central America of African descent.

Sickle Cell Anemia is a fatal hereditary illness, in which there is insufficient amount of red blood cells to to carry the right amount of oxygen throughout the body. In the United States people with Sickle Cell Anemia is that of an African Descent or would classify themselves as black.

The probability of inheriting a disease is not random. There are several factors that determine the chances on inheriting a disease such as race, gender, genetics, etc. A person of Caucasian decent is more likely to develop cystic fibrosis, an Asian person has a higher chance of inheriting Kawasaki disease and there is a very high rate of Sickle Cell Anemia among people of African lineage. Sickle Cell disease is inherited and it affects the anatomy of the red blood cells, resulting in a sickle shape which then affects the functions of red blood cells causing a blood disorder. Sickle Cell is a recessive disease and persons affected have both copies of the hemoglobin S gene. This genetic defect causes red blood cells to become sickle-shaped (cresent shape). The abnormal shape severely impede the ability of red blood cells to pass through small blood vessels. This impediment caused by the sickle-shaped red blood cells decreases the flow of blood to parts of the body. This reduced blood flow to tissues causes hypoxia and subsequently leads to tissue damage. This alteration in the function of red blood cells is what leads to the complications of sickle cell disease. There are various types of sickle cell disease. The most common types of sickle cell disease are Sickle Cell Anemia (SS), Sickle-Hemoglobin C Disease (SC), Sickle Beta-Plus Thalassemia and Sickle Beta-Zero Thalassemia. Often conflated with sickle cell disease is "Sickle Cell Trait". Sickle cell trait means that a

CHIEF COMPLAINT: Stated by the father “M.H. keep complaining of earache and on and off fever”

Fibrosis, Fragile X, and Sickle Cell Anemia. After these tests are done, results take anywhere from 10-

a. Perform two different tests (Breslow-Day, and likelihood ratio test) for whether the drug effect on curing an infection is the same over eight centers.