Thalassemia

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)

Etiology and Risk Factors: Thalassemia is caused by genetic mutations that affect the production of hemoglobin. It is most commonly inherited in an autosomal recessive pattern, meaning an affected individual must inherit two abnormal genes - one from each parent. Risk factors for thalassemia include having a family history of the disorder, belonging to certain ethnic groups (Mediterranean, African, Southeast Asian, and Middle Eastern), and parental consanguinity. Common Differential Diagnosis: The common differential diagnosis for thalassemia includes other causes of anemia such as iron deficiency anemia, anemia of chronic disease, and other hemoglobinopathies such as sickle cell disease. Typical Diagnostic Work-Up: The diagnostic work-up for thalassemia includes:

• 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.

Treatment Plan: The treatment plan for thalassemia depends on the severity and type of thalassemia. Options may include:

• 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.

Tertiary Prevention Measures and Nutritional Needs: Tertiary prevention measures for individuals with thalassemia include:

• 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.

Nutritional needs for individuals with thalassemia may include:

• 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.

Appropriate Referrals: Appropriate referrals for individuals with thalassemia may include:

• 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.

Additional Information Important to the Geriatric Population: In the geriatric population, thalassemia may present with additional challenges due to aging-related factors such as comorbidities, reduced organ function, and polypharmacy. Close monitoring of organ function, particularly liver and kidney function, is important in this population. Geriatric individuals may also have different nutritional needs and require individualized treatment plans considering their overall health status. Comprehensive assessment and regular follow-up are crucial to ensure optimal management of thalassemia in the geriatric population. References:

1. De Sanctis V, Soliman AT, Elsedfy H, et al. Thalassemia intermedia: revisited. Mediterr J Hematol Infect Dis. 2020;12(1):e2020032.
2. Cao A, Galanello R. Beta-thalassemia. Genet Med. 2010;12(2):61-76.

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