Thalassemia blood disorder Case Study 1
Assignment ID Number AFFGEHU83939HD Type of Document Essay Writing Format APA/MLA/Harvard Academic Level Masters/University References/Sources 4 References
Thalassemia blood disorder Case Study 1
An 82-year-old female presents to the office complaining of fatigue, dizziness, weakness, and increasing dyspnea on exertion. She has a past medical history of atrial fibrillation, hypertension, and hyperlipidemia. Medications include warfarin 2 milligrams po daily, lisinopril 10 milligrams po daily, and simvastatin 10 milligrams po daily. There are no known drug allergies. The physical exam reveals a 5’2” older female. Her weight is 128 pounds, blood pressure is 144/80, heart rate is 98, temperature is 98 degrees Fahrenheit, and O2 saturation is 98%. Further examination reveals the following:
Eyes: + pallor conjunctiva Cardiac: irregular rhythm. No S3 S4 or M. NO JVD
Lungs: CTA w/o rales, wheezes, or rhonchi
Abdomen: soft, BS +, + epigastric tenderness. No organomegaly, rebound, or guarding
Rectal: no stool in rectal vault
Iron Deficiency Anemia- is a microcytic anemia, which defines a decrease mean red cell volume (MCV) as a consequence of reduced hemoglobin (Hb) production. Iron deficiency is the most common cause of anemia. Iron deficiency anemia is usually caused by blood loss (eg, GI, menstrual) but may be due to hemolysis, malabsorption or increased demand for iron (eg, in pregnancy, lactation, periods of rapid growth in children). RBCs tend to be microcytic and hypochromic, and iron stores are low, as shown by low serum ferritin and low serum iron levels with high serum total iron-binding capacity. Symptoms are usually nonspecific. Most symptoms of iron deficiency are due to anemia. Such symptoms include fatigue, loss of stamina, shortness of breath, weakness, dizziness, and pallor. Another common symptom is restless leg syndrome (RLS), which is an unpleasant urge to move the legs during periods of inactivity(De Franceschi et al, 2017).
Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form or inadequate amount of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. The disorder results in large numbers of red blood cells being destroyed, which leads to anemia. Hemoglobin is made of two proteins: Alpha globin and Beta globin. Thalassemia occurs when there is a defect in a gene that helps control production of one of these proteins. The symptoms of thalassemia major generally appear before a child’s second birthday. The severe anemia related to this condition can be life-threatening. Other signs and symptoms include: bone deformities, especially in the face, dark urine, delayed growth and development, excessive tiredness and fatigue, and yellow or pale skin(Pokpong Piriyakhuntorn et al, 2018).
Megaloblastic Anemia: is a condition in which the bone marrow produces unusually large, structurally abnormal, immature red blood cells (megaloblasts). Megaloblastic anemia can result when there is inadequate intake or absorption of vitamin B12 or Folate (Buttaro, Trybulski, Polgar-Bailey, & Sandberg-Cook, 2017). Vitamin B12 and Folate are needed for DNA synthesis in RBC production, so lack of the nutrients results in ineffective erythropoiesis and macrocytic RBCs. In most cases, megaloblastic anemia develops slowly and affected individuals may remain without any apparent symptoms (asymptomatic) for many years. Symptoms common to anemia usually develop at some point and may include fatigue, paleness of the skin (pallor), shortness of breath, lightheadedness, dizziness and a fast or irregular heartbeat (Buttaro, Trybulski, Polgar-Bailey, & Sandberg-Cook, 2017).
Anemia of Chronic Disease (ACD): also called the anemia of inflammation, anemia of chronic inflammation, or hypoferremia of inflammation) was initially thought to be associated primarily with infectious, inflammatory, or neoplastic disease. It is common in the elderly and results when there is impaired iron transport or deficient erythropoietin. The symptoms are similar to those caused by iron-deficiency anemia and include feeling tired or weak, having pale skin, having shortness of breath, sweating, being dizzy or feeling faint, rapid heartbeat, and having headaches (Buttaro, Trybulski, Polgar-Bailey, & Sandberg-Cook, 2017).
How H&P Plays a Role in Diagnosis
The patient history and physical exam played a crucial role in diagnosing this patient; even without lab reports. First, the patient’s age and gender are risk factors for IDA, as it is predominant in women and older ages. Iron deficiency anemia is the most likely diagnosis based on the patient history and physical examination. She is currently taking warfarin which places her at high risk for bleeding. The patients 98 heart rate that is irregular may be attributed primarily to the patients previous history of atrial fibrillation. Although, it is unknown how long the patient has been taking warfarin or what her last PT/INR results were. There were no lab results reported in this case study to assist in the diagnosis. The patient having epigastric tenderness warrants further evaluation as it could indicate ulcers or GI bleed. The patient not having stool in the rectal vault impeded the physical exam to determine if GI bleed is present. The patient should be assessed for any dark, tarry stools or bright, red bloody stools to confirm GI blood loss. The patient’s dietary or social history should be assessed to know if she has poor dietary intake, is a vegetarian, or drinks alcoholic beverages to rule out megaloblastic anemia (Buttaro, Trybulski, Polgar-Bailey, & Sandberg-Cook, 2017). This patients laboratory results were not available in this study. Some laboratory results that would be helpful in determining an appropriate diagnosis are a complete blood count (CBC) with differential, peripheral smear, ferritin, total iron-binding capacity (TIBC), reticulocyte count, transferrin, serum iron, folate, vitamin B12, liver function tests, basic metabolic panel (BMP), and erythropoietin level (Buttaro, Trybulski, Polgar-Bailey, & Sandberg-Cook, 2017).
Treatment should begin with testing to determine if the anemia has been caused by blood loss (American Society of Hematology, n.d.). Treatment for iron-deficiency anemia will depend on its cause and severity. Treatments may include iron supplements, procedures, surgery, and dietary changes. Severe iron-deficiency anemia may require intravenous (IV) iron therapy or a blood transfusion. In this patient scenario, the patient is likely experiencing blood loss from the GI tract and testing could include esophagogastroduodenoscopy, colonoscopy, and stool for occult blood. After the source of blood loss is identified and treated, iron replacement therapy should be initiated. The usual adult therapeutic dose is 150 to 200 mg of elemental iron per day in divided doses until anemia is corrected. Administration should be continued empirically for 4 to 6 months or until the serum ferritin level exceeds 50 µg/L and then stopped. Supplementation with oral iron should continue until the anemia is corrected, and until the underlying cause of the deficiency is corrected, or indefinitely if the cause of the deficiency is chronic (Buttaro, Trybulski, Polgar-Bailey, & Sandberg-Cook, 2017).
American Society of Hematology. (n.d.). Anemia. Retrieved from http://www.hematology.org/Patients/Anemia/.
Buttaro, T. M., amp, Trybulski, J., amp, Polgar-Bailey, P., amp, Sandberg-Cook, J. (2017).Primary Care: A Collaborative Practice. [MBS Direct]. Retrieved from https://mbsdirect.vitalsource.com/#/books/9780323355018/
De Franceschi, L., Iolascon, A., Taher, A., & Cappellini, M. D. (2017). Clinical management of iron deficiency anemia in adults: Systemic review on advances in diagnosis and treatment. European Journal of Internal Medicine, 42, 16–23. https://doi-org.ezp.waldenulibrary.org/10.1016/j.ejim.2017.04.018
Pokpong Piriyakhuntorn, Adisak Tantiworawit, Thanawat Rattanathammethee, Chatree Chai-Adisaksopha, Ekarat Rattarittamrong, & Lalita Norasetthada. (2018). The role of red cell distribution width in the differential diagnosis of iron deficiency anemia and non-transfusiondependent thalassemia patients. Hematology Reports, 10(3), 72. Retrieved from https://search-ebscohost-com.ezp.waldenulibrary.org/login.aspx?direct=true&db=edb&AN=131982201&site=eds-live&scope=site
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