Thalassemia Mary Kristi Angelie C. Palen Thalassemia Thalassemias are autosomal recessive anemias associated with abnormalities of the beta chain of adult hemoglobin (HgbA). 2 main types: ➢ Alpha Thalassemia ➢ Beta Thalassemia - each of these types can be mild, moderate, or serious, depending on how much hemoglobin your body makes. Alpha Year 2022 Alpha thalassemia is a blood disorder that reduces the production of hemoglobin. Two types of alpha thalassemia: ❖ Hemoglobin Bart Hydrops Fetalis Syndrome ❖ Hemoglobin H disease (HbH) Alpha and Beta Thalassemia Beta Year 2022 Beta thalassemia is a blood disorder that reduces the production of hemoglobin. Types of beta thalassemia: ❖ Thalassemia Minor (Heterozygous Beta-Thalassemia)/ Beta thalassemia Minima ❖ Thalassemia Major (Homozygous Beta-Thalassemia) - Cooley’s Anemia ❖ Beta thalassemia Intermedia Alpha and Beta Thalassemia Incidence and Occurence ★ Thalassemia affects approximately 4.4 out of every 10,000 live births throughout the world. This condition causes both genders to inherit relevant gene mutations equally because it follows an autosomal pattern of inheritance with no preference for gender. ➔ Alpha Thalassemia - particularly common among certain populations of Southeast Asian descent and a high number of carriers in Sub-Saharan Africa and Western Pacific regions. ➔ Beta Thalassemia - common among populations of Mediterranean, African, and South Asian ancestry. Etiology ❖ Thalassemia is an inherited (i.e., passed from parents to children through genes) blood disorder caused when the body doesn’t make enough of a protein called hemoglobin, an important part of the red blood cells. Anatomy and Physiology of Blood Pathophysiology Thalassemia is a blood disorder that is caused by DNA mutations in cells that are responsible for producing hemoglobin. This leads to a reduction in the number and ability of the red blood cells to carry oxygen throughout the body and can cause sufferers to feel symptoms such as fatigue. Alpha-thalassemia arises due to insufficient synthesis of alpha-hemoglobin chains and an excess of beta chains. There are four genes on chromosome 16 that are required to produce the alpha region of hemoglobin, two of which are inherited from each parent of an individual. The number of gene mutations corresponds to the severity of the condition as follows: ● One gene mutation: no signs or symptoms but may pass the disease on to children as a silent carrier ● Two gene mutations: mild signs and symptoms, referred to as alpha-thalassemia minor or alpha-thalassemia trait ● Three gene mutations: moderate to severe symptoms, referred to as alpha-thalassemia intermedia or hemoglobin H disease ● Four gene mutations: often fatal before or shortly after childbirth, referred to as alpha-thalassemia major or hydrops fetalis. Pathophysiology Beta-Thalassemia Beta-thalassemia occurs due to insufficient synthesis of beta-hemoglobin chains and an excess of alpha chains. There are two genes on chromosome 11 that are required to produce the beta region of the hemoglobin chain, each of which is inherited from one parent. The number of gene mutations corresponds to the severity of the condition as follows: ● One gene mutation: mild signs or symptoms, referred to as beta-thalassemia minor or alpha-thalassemia trait ● Two gene mutations: moderate to severe symptoms, referred to as beta-thalassemia major or Cooley’s anemia Clinical Manifestations Enter your grand vision statement! Alpha and Beta Thalassemia ❏ Anemia ❏ Fatigue ❏ Pallor ❏ Irritability ❏ Anorexia Vision Complications Moderate to Severe ● Iron overload ● Infection Severe ● Bone Deformities ● Enlarged spleen ● Slowed growth rates ● Heart problems Diagnostic Studies ❏ CBC and Peripheral Blood Smear ❏ Iron Studies ❏ Skeletal Survey ❏ ECG ❏ HLA typing ❏ Prenatal Testing ❏ Hematopoietic Stem Cell Transplant Collaborative Care A. Drug Therapy ● Antipyretics, Antihistamines, Chelating Agents, Corticosteroids, Antibacterial Combinations, Vitaminss, Vaccines, Antineoplastic Agents, Growth hormone B. Surgical Treatment ● Hematopoietic Stem Cell Transplantation ● Iron Chelation Therapy C. Nutrition and Diet Therapy ● For people living with thalassemia, because too much iron may build up in the blood, foods high in iron may need to be limited. ● Diet D. Fluids Therapy (IVF or others) ● Blood Transfusions (Occassional and Regular) E. Other treatments ● Splenectomy ● Medicines called luspatercept (Reblozyl) and hydroxyurea may be prescribed by a healthcare provider to treat thalassemia. Nursing Management Nursing Assessment Nursing Assessment of a child with thalassemia include: ● Thalassemia major. Assess for severe anemia, splenomegaly or hepatomegaly with abdominal enlargement, frequent infections, bleeding tendencies e.g. epistaxis, and anorexia. ● Thalassemia intermediate. Assess for anemia, jaundice, and splenomegaly, hemosiderosis caused by increased intestinal absorption of iron. ● Thalassemia minor. Assess for mild anemia usually with no signs or symptoms. Nursing Diagnoses Based on the assessment data, the major nursing diagnoses are: ● Ineffective tissue perfusion related to reduced cellular components that are essential to deliver pure oxygen to the cells. ● Activity intolerance related to imbalance of oxygen supply and consumption needs. ● Imbalanced nutrition: less than body requirements related to lack of appetite. ● Ineffective family coping related to impact of the disease to family functioning. Nursing Care Plan and Goals Major goals for the child are: ● Client will verbalize use of energy conservation principles. ● Client will verbalize reduction of fatigue, as evidenced by reports of increased energy and ability to perform desired activities. ● Client will verbalize understanding of own disease and treatment plan. ● Client will have a reduced risk of infection as evidenced by an absence of fever, normal white blood cell count, and implementation of preventive measures such as proper hand washing. ● Client will have vital signs within the normal limit. ● Client will have a reduced risk for bleeding, as evidenced by normal or adequate platelet levels and absence of bruises and petechiae. Nursing interventions for a child with thalassemia are: ● Activity. Assist the client in planning and prioritizing activities of daily living (ADL); assist the client in developing a schedule for daily activity and rest; and stress the importance of frequent rest periods. ● Health education. Explain the importance of the diagnostic procedures (such as complete blood count), bone marrow aspiration and a possible referral to a hematologist; and explain the hematological vocabulary and the functions of blood elements, such as white blood cells, red blood cells, and platelets. ● Prevent infection. Assess for local or systemic signs of infection, such as fever, chills, swelling, pain, and body malaise; instruct the client to avoid contact with people with existing infections; instruct the client to avoid eating raw fruits and vegetables and uncooked meat; stress the importance of daily hygiene, mouth care, and perineal care; and teach the client and visitors the proper hand washing. ● Prevent bleeding. Assess for any frank bleeding from the nose, gums, vagina, or urinary or gastrointestinal tract and monitor platelet count. Evaluation Goals are met as evidenced by: ● Client/parent verbalized use of energy conservation principles. ● Client verbalized reduction of fatigue, as evidenced by reports of increased energy and ability to perform desired activities. ● Client/parent verbalized understanding of own disease and treatment plan. ● Client has a reduced risk of infection as evidenced by an absence of fever, normal white blood cell count, and implementation of preventive measures such as proper hand washing. ● Client has vital signs within the normal limit. ● Client has a reduced risk for bleeding, as evidenced by normal or adequate platelet levels and absence of bruises and petechiae. Discharge Health Instructions ● Vaccines are a great way to prevent many serious infections.People with thalassemia are considered “high risk” for certain infections, especially if they have had their spleen removed, and should follow a special vaccination schedule ● Eating nutritious foods is important for everyone to maintain a healthy lifestyle – a diet, high in fruits and vegetables and low in fats is ideal for gaining the essential nutrients our bodies need. Persons with thalassemia should discuss with their doctor whether or not they should limit the amount of iron in their diet. ● Exercise is part of an overall healthy lifestyle and helps lead to better health outcomes. If you have thalassemia, you should discuss with your doctor the level of exercise that would be best for you. ● if you have thalassemia, thalassemia trait, or know someone in your family with thalassemia, genetic counseling is recommended prior to any pregnancy so that you and your partner can be informed of your risk of having a child with thalassemia. Thank you! Credits ● https://www.nhlbi.nih.gov/health/thalassemia ● https://www.mayoclinic.org/diseases-conditions/thalassemi a/symptoms-causes/syc-20354995#:~:text=Thalassemia%2 0can%20make%20your%20bone,Enlarged%20spleen. ● https://www.news-medical.net/health/Thalassemia-Pathop hysiology.aspx ● https://www.cdc.gov/ncbddd/thalassemia/facts.html#:~:tex t=When%20thalassemia%20is%20called%20%E2%80%9Ca lpha,beta%20is%20called%20beta%20thalassemia. ● https://medlineplus.gov/genetics/condition/beta-thalassemi a/#:~:text=In%20people%20with%20beta%20thalassemia,f atigue%2C%20and%20more%20serious%20complications. ● https://www.hoacny.com/patient-resources/blood-disorder s/what-thalassemias/diagnosing-thalassemias#:~:text=Doct ors%20diagnose%20thalassemias%20using%20blood,in%2 0a%20sample%20of%20blood. ● https://nurseslabs.com/thalassemia/#clinical_manifestations
