Thalassemia
Choose from the following hematologic diagnoses and outline a typical presentation, etiology, including risk factors, common differential diagnosis, typical diagnostic work-up, treatment plan, tertiary prevention measures and any nutritional needs, preventative measures, appropriate referrals, screening tools/diagnostic-specific scales tools (if any), and additional information that would be important to the geriatric population. Highlight differences in presentation of adult versus geriatric patients with this diagnosis. Support your summary and recommendations plan with a minimum of two APRN-approved scholarly resources.
Anemia (iron deficiency, pernicious, B12, folic acid, anemia of chronic disease)
Thalassemia
Sickle-Cell Disease
Idiopathic Thrombocytopenic Purpura (ITP)
Heparin Induced Thrombocytopenia (HIT)
Disseminated Intravascular Coagulation (DIC).
Thalassemia
Typical Presentation: Thalassemia is a group of inherited blood disorders characterized by abnormal hemoglobin production. The typical presentation of thalassemia includes:
- Fatigue and weakness
- Pale skin (pallor)
- Slow growth and delayed puberty in children
- Enlarged spleen and liver
- Facial bone deformities (in severe cases)
- Shortness of breath
- Jaundice (yellowing of the skin and eyes)
- Complete blood count (CBC) to assess red blood cell indices (e.g., mean corpuscular volume [MCV], mean corpuscular hemoglobin [MCH], and mean corpuscular hemoglobin concentration [MCHC]).
- Hemoglobin electrophoresis to identify the specific type of thalassemia and differentiate it from other hemoglobinopathies.
- Genetic testing to confirm the diagnosis and identify specific gene mutations.
- Regular blood transfusions to maintain adequate hemoglobin levels.
- Chelation therapy to remove excess iron from the body due to frequent blood transfusions.
- Folic acid supplements to support red blood cell production.
- Bone marrow transplant in severe cases.
- Regular monitoring of iron levels and organ function.
- Vaccinations to prevent infections.
- Genetic counseling for individuals and their families to understand the inheritance pattern and make informed reproductive decisions.
- A balanced diet rich in iron, vitamin C, and folic acid to support red blood cell production.
- Calcium and vitamin D supplements to prevent bone density loss in cases of expanded bone marrow.
- Hematologist or pediatric hematologist for specialized care.
- Genetic counselor for counseling regarding inheritance patterns and family planning.
- Support groups or mental health professionals to address emotional and psychosocial needs.
- De Sanctis V, Soliman AT, Elsedfy H, et al. Thalassemia intermedia: revisited. Mediterr J Hematol Infect Dis. 2020;12(1):e2020032.
- Cao A, Galanello R. Beta-thalassemia. Genet Med. 2010;12(2):61-76.