Sickle Cell Anemia: Difference between revisions
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<div class="noeditbox">Welcome to [[Pathophysiology of Complex Patient Problems|PT 635 Pathophysiology of Complex Patient Problems]] This is a wiki created by and for the students in the School of Physical Therapy at Bellarmine University in Louisville KY. Please do not edit unless you are involved in this project, but please come back in the near future to check out new information!!</div><div class="editorbox"> | <div class="noeditbox">Welcome to [[Pathophysiology of Complex Patient Problems|PT 635 Pathophysiology of Complex Patient Problems]] This is a wiki created by and for the students in the School of Physical Therapy at Bellarmine University in Louisville KY. Please do not edit unless you are involved in this project, but please come back in the near future to check out new information!!</div><div class="editorbox"> | ||
'''Original Editors '''- [[Amanda Scott|Amanda Scott from Bellarmine University's Pathophysiology of Complex Patient Problems project.]] | '''Original Editors '''- [[Amanda Scott|Amanda Scott from Bellarmine University's Pathophysiology of Complex Patient Problems project.]] | ||
'''Lead Editors''' - Your name will be added here if you are a lead editor on this page. [[Physiopedia:Editors|Read more.]] | '''Lead Editors''' - Your name will be added here if you are a lead editor on this page. [[Physiopedia:Editors|Read more.]] | ||
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Sickle cell anemia is a genetic disorder characterized by irregularly shaped red blood cells due to an abnormal form of Hemoglobin within the RBC’s. The hemoglobin is able to transport Oxygen in a normal fashion, but once the Oxygen is released, the diseased molecules stick to one another and form abnormally shaped rods in the RBC’s.<ref name="Campbell" /> This in turn, causes the erythrocytes to become sickle shaped and unable to squeeze through the small diametered capillaries, leading to occlusion of these vessels. <br> | Sickle cell anemia is a genetic disorder characterized by irregularly shaped red blood cells due to an abnormal form of Hemoglobin within the RBC’s. The hemoglobin is able to transport Oxygen in a normal fashion, but once the Oxygen is released, the diseased molecules stick to one another and form abnormally shaped rods in the RBC’s.<ref name="Campbell" /> This in turn, causes the erythrocytes to become sickle shaped and unable to squeeze through the small diametered capillaries, leading to occlusion of these vessels. <br> | ||
[[Image:Sickle cell.jpg|Image:Sickle_cell.jpg]]<ref name="U.S.">U.S. Department of Health &amp; Human Services. Sickle Cell Anemia. National Institutes of Health. 2008. http://www.nhlbi.nih.gov/health/dci/Diseases/Sca/SCA_WhatIs.html. Accessed on March 3, 2010.</ref> | [[Image:Sickle cell.jpg|Image:Sickle_cell.jpg]]<ref name="U.S.">U.S. Department of Health &amp;amp; Human Services. Sickle Cell Anemia. National Institutes of Health. 2008. http://www.nhlbi.nih.gov/health/dci/Diseases/Sca/SCA_WhatIs.html. Accessed on March 3, 2010.</ref> | ||
This disease was first described by Dr. James Herrick in 1919, who observed a patient from the West Indies whose anemia seemed to be due to sickle shaped red blood cells.<ref name="harvard">Brigham and Women’s Hospital. Brief History of Sickle Cell Disease. Harvard Medical School Research. 2002. http://sickle.bwh.harvard.edu/scd_history.html. Accessed on March 3, 2010.</ref> In 1956, scientists discovered the gene abnormality within the hemoglobin protein responsible for this disease.<ref name="harvard" /> | This disease was first described by Dr. James Herrick in 1919, who observed a patient from the West Indies whose anemia seemed to be due to sickle shaped red blood cells.<ref name="harvard">Brigham and Women’s Hospital. Brief History of Sickle Cell Disease. Harvard Medical School Research. 2002. http://sickle.bwh.harvard.edu/scd_history.html. Accessed on March 3, 2010.</ref> In 1956, scientists discovered the gene abnormality within the hemoglobin protein responsible for this disease.<ref name="harvard" /> | ||
Revision as of 17:43, 30 March 2010
Original Editors - Amanda Scott from Bellarmine University's Pathophysiology of Complex Patient Problems project.
Lead Editors - Your name will be added here if you are a lead editor on this page. Read more.
Definition/Description[edit | edit source]
Sickle cell anemia is a genetic disorder characterized by irregularly shaped red blood cells due to an abnormal form of Hemoglobin within the RBC’s. The hemoglobin is able to transport Oxygen in a normal fashion, but once the Oxygen is released, the diseased molecules stick to one another and form abnormally shaped rods in the RBC’s.[1] This in turn, causes the erythrocytes to become sickle shaped and unable to squeeze through the small diametered capillaries, leading to occlusion of these vessels.
This disease was first described by Dr. James Herrick in 1919, who observed a patient from the West Indies whose anemia seemed to be due to sickle shaped red blood cells.[3] In 1956, scientists discovered the gene abnormality within the hemoglobin protein responsible for this disease.[3]
Prevalence[edit | edit source]
50,000-70,000 individuals in U.S. have this disease, with approximately 1000 babies born with it each year. Sickle cell is more prevalent in individuals of African descent, and affects 1 in 400 African American newborns in the U.S.[1] African nations have a much higher incidence of this disease, with approximately 25% of individuals in Western and Central Africa positive for the sickle cell trait.[4]
Characteristics/Clinical Presentation[edit | edit source]
Individuals with this disorder may vary in their presentation of symptoms. Occlusion of the capillaries by the sickle shaped erythrocytes leads to acute and chronic tissue damage. Clinically, this can lead to widespread pain throughout the body that may last 5 or 6 days.[5] As the name suggests, these patients are anemic, resulting in a presentation of fatigue, pallor and irritability. Acute episodes of symptoms are typical and may be brought on by physical exertion, extreme temperatures, fatigue or recent infections. Cerebrovascular accidents and acute chest syndrome may also occur as a result of occlusion of the blood vessels.[4] The sickled RBC’s may adhere to the lung endothelium and cause inflammation resulting in acute chest syndrome.[4] This manifests itself as chest pain, fever, coughing, and shortness of breath. Pulmonary hypertension may also result from occlusion in the lungs. Stroke may occur in individuals with sickle cell anemia at a young age and may lead to disability or death.
Associated Co-morbidities[edit | edit source]
Jaundice may occur in individuals with sickle cell since liver is unable to process the increased number of dead blood cells, leading to a build up of bilirubin.[4] Hand and foot syndrome may also occur if a clot forms in vessels supplying metacarpal and metatarsal bones. Necrosis of spleen may occur due to its susceptibility to clots. This results in red, tender extremities with possible numbness and tingling.[4] In most children, the spleen is destroyed at an early age as a result of sickle cell disease, posing a significant health risk.[6]
Medications[edit | edit source]
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Diagnostic Tests/Lab Tests/Lab Values[edit | edit source]
All infants in the U.S. must be screened for sickle cells anemia. Blood from the umbilical cord is analyzed using a sickle turbidity test to determine if the abnormal hemoglobin type is present. Electrophoresis can also be used to separate the blood hemoglobin and determine if sickle cell anemia is present.[6] Prenatal diagnosis is possible as early as 10 weeks gestation using amniocentesis or chorionic villus sampling at 16 weeks.[4]
Causes[edit | edit source]
Sickle cell disease is an autosomal recessive disorder, indicating that an individual must inherit two recessive alleles for the disorder to be present.[5] If both parents possess one sickle cell allele, there is a 25% chance that their child will have the disease. The disease results from a mutation that substitutes valine for glutamic acid in the hemoglobin protein. This substitution results in differences in the surface of the red blood cell.[4] A person may have the sickle cell trait if they possess one sickle cell allel; these individuals will be predominantly asymptomatic, but may have some sickle cell symptoms during periods of low oxygen levels.[1]
Systemic Involvement[edit | edit source]
Sickle cell disease may cause widespread complications throughout the body due to decreased blood flow to the organs, as well as tissue damage. Complications include[4]:
Neurological
- Seizures
- CVA
- Meningitis
Pulmonary
- acute pulmonary infarction
- pneumonia, atelectasis
- chest syndrome
Musculoskeletal
- AVN
- osteomyelitis
- hand-foot syndrome
Visual
- blindness
- retinopathy
Genitourinary
- eclampsia
- nocturia
- hematuria
Dermatological
- stasis ulcers of hands, ankles, feet
Other organs
- splenomegaly
- acute hepatomegaly
- gall stones
Medical Management (current best evidence)[edit | edit source]
Bone marrow transplant has been used to successfully cure sickle cell disease. This was first performed in 1984, and clinical trials demonstrated that 78% of the 116 patients with sickle cell that underwent transplantation were disease free four years following the procedure. However, this may not be available to all patients, and the risk of rejection of donor transplantation prevent some individuals from undergoing this procedure.
Management of pain and anemia symptoms is also given; including rest, IV fluids, and pain meds. PT and OT may also be utilized for management of joint and bone involvement.
Acute stroke managed with transfusions
Hydroxyurea, vasodilators, anticoagulatants, used for treatment of pulmonary hypertension.
Researching use of fetal hemoglobin for treatment- produced in fetus and 6 months of life
Physical Therapy Management (current best evidence)[edit | edit source]
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Alternative/Holistic Management (current best evidence)[edit | edit source]
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Differential Diagnosis[edit | edit source]
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Case Reports[edit | edit source]
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Resources
[edit | edit source]
American Sickle Cell Anemia Assocation- http://www.ascaa.org/
Sickle Cell Disease Association of America- http://www.sicklecelldisease.org
Recent Related Research (from Pubmed)[edit | edit source]
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References[edit | edit source]
see adding references tutorial.
- ↑ 1.0 1.1 1.2 Campbell NA, Reece JB. Biology: Seventh Edition. San Francisco; Pearson Education: 2005.
- ↑ U.S. Department of Health &amp; Human Services. Sickle Cell Anemia. National Institutes of Health. 2008. http://www.nhlbi.nih.gov/health/dci/Diseases/Sca/SCA_WhatIs.html. Accessed on March 3, 2010.
- ↑ 3.0 3.1 Brigham and Women’s Hospital. Brief History of Sickle Cell Disease. Harvard Medical School Research. 2002. http://sickle.bwh.harvard.edu/scd_history.html. Accessed on March 3, 2010.
- ↑ 4.0 4.1 4.2 4.3 4.4 4.5 4.6 4.7 Goodman CC, Fuller KS. Pathology: Implications for the Physical Therapist. St. Louis; Saunders Elsevier: 2009.
- ↑ 5.0 5.1 Goodman CC, Snyder TK. Differential Diagnosis in Physical Therapy. China; Saunders Elsevier: 2000.
- ↑ 6.0 6.1 Sickle Cell Disease of America. What is Sickle Cell Disease. Sickle Cell Disease of America Website. 2005. http://www.sicklecelldisease.org. Accessed on February 28, 2010.
