Sofia is a 3-year old Italian American child. She has severe anemia and is always weak and fatigued. Moreover, she falls ill frequently. Doctors have informed her parents that she is less likely to survive young adulthood and that they should regularly take her to the hospital for blood transfusions. In this scenario, Sofia is likely to have A hemophilia. B Tay-Sachs disease. C anencephaly. D Cooley's anemia.
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Hemoglobin is a protein in red blood cells that carries oxygen to the body's organs and tissues. People with Cooley's anemia have a shortage of red blood cells, which can lead to fatigue, weakness, and pale skin. They may also experience frequent infections, bone Show more…
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In ________ a genetic mutation codes for an abnormal hemoglobin molecule that is less soluble than usual and more likely than normal to deform the shape of the red blood cell. (a) Down syndrome (b) Tay-Sachs disease (c) sickle cell anemia (d) PKU (e) hemophilia A
Madhur L.
Clinical Case: A young, black girl has run a long race in a late morning gym class. Soon afterwards, she feels unusually fatigued and, because she remains lethargic during the early afternoon, she is sent home from school. Her parents are concerned about her condition and bring her to you – her pediatrician – later in the day. In talking with her parents and observing the girl, you note the following signs and symptoms: She is drowsy and has difficulty following directions or answering questions. She says she is "tired" and her muscles feel weak. She complains of generalized pain in her torso and muscles of her arms and legs. She exhibits shortness of breath. Her skin is slightly bluish in her fingers/palms/lips. Laboratory analysis of a blood sample reveals the following: Low hematocrit, low level of hemoglobin. Stained blood smear shows that red blood cells are normocytic but that numerous cells have a hooked shape. Electrophoresis of the blood indicates an abnormal form of hemoglobin. Diagnosis: Because of the information provided above, what specific disease or condition is she likely to be suffering from? Questions: 1. What specific type of cell is afflicted? 2. To what basic type of tissue does this cell belong? 3. What change in the cell structure has the disease caused? 4. What normal function of the cell has been disturbed by this change in structure? 5. The signs and symptoms of the disease are caused by a defective molecule. What class of organic compounds does this molecule belong to?
Keemin L.
Chrisana, a young African American woman, remembers from her childhood the suffering that her father went through before he died at age 40. What she remembers most is the deep, excruciating pain he experienced during what her family called a "crisis," when he would sometimes be forced to go to the hospital. Because he suffered from chronic anemia, he seemed to be tired a lot of the time. He often complained of painful joints, and he seemed to be particularly susceptible to infections, especially in the sores that often were present on his legs. One day her mother came home to find that her father had suffered a stroke, and he died a few days later from the disease that had plagued him all his life: Sickle Cell Disease. Chrisana, although she had been normally healthy all her life, noticed that she some- times had blood in her urine and seems to be susceptible to urinary tract infections. She is now engaged to Charles, and because they know that approximately one 10 African Americans carry the gene for sickle cell disease, they are concerned about the likelihood that their children may have the disease. They have learned that the damage of sickle-cell disease occurs when the red cells in a sickle cell patient deoxygenate (give up their oxygen to the cells), the abnormal hemoglobin in them changes shape to forms rods and fibers. This causes the red cells to deform into sickle shapes which then clog the capillaries, slowing the flow of blood and reducing the supply of oxygen to tissues. Not only does pain occur when body tissues are damaged by lack of oxygen, but serious and even life-threatening complications can result from severe or prolonged oxygen deprivation. The allele for sickle cell hemoglobin (HbS) is a recessive allele. In order for someone to have the phenotype of the disease, they must have inherited an HbS gene from each parent. If someone has only one copy of the allele, they have sickle cell trait—a condition that usually has no symptoms, but rarely may have mild consequences, especially when the carrier goes to high altitudes. There is a blood test available that can determine whether or not one carries the trait. People with sickle trait have one gene making HbS and one gene making HbA (normal hemoglobin), so you would expect equal amounts of HbS and HbA in the RBC. The unstable property of however, means that not all of the HbS made in the red blood cell (RBC) remains in the RBC, because some of the HbS decomposes. The pre-dominance of HbA inhibits and dilutes the ability of HbS to polymerize, and so sickle trait is not a form of sickle cell disease. Adapted from Laboratory Experiences in General Biology, 6th Ed, Pearson, 2000 DISCUSSION: 1. Does Chrisana have sickle cell disease? Sickle cell trait? How do you know? 2. If Charles has sickle cell trait, what are the chances that their children might suffer from the disease? If he doesn't have the trait, what are the chances that their children might suffer from the disease? 3. What causes the genetic abnormality of the sickle cell hemoglobin (HbS)? 4. Why do sickle cell carriers (sickle cell trait) sometimes experience symptoms at high altitudes?
Katlin K.
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