Follow-up from previous video on types and causes of thalassemia
Focus: Tests and investigations to diagnose thalassemia
Symptoms of Thalassemia
Caused by defective hemoglobin, reduces oxygen levels in bloodstream
Severity of anemia varies by disorder
Silent Carriers: No symptoms, normal hemoglobin
Alpha/Beta Thalassemia Trait: Mild/no symptoms
Beta Thalassemia Intermedia: Mild to moderate anemia, slowed growth, delayed puberty, bone problems, enlarged spleen
Hemoglobin H Disease/Beta Thalassemia Major: Severe anemia, pale appearance, poor appetite, dark urine, slowed growth, jaundice, enlarged spleen/liver/heart, bone problems
Diagnostic Tests and Investigations
Preliminary Assessments
Medical and Family History: Essential for initial screening
Menser Index: Differentiates thalassemia from iron deficiency anemia
Calculation: MCV / Red Cell Count
Index < 13: Thalassemia
Index > 13: Iron deficiency anemia
Peripheral Blood Smear: Assess red cell properties
Indicators: Microcytic & hypochromic red cells, variation in size and shape, increased reticulocytes, target cells, Heinz bodies
Follow-Up Testing
Serum Iron Studies: Ferritin, unsaturated iron-binding capacity, total iron-binding capacity, percent saturation of transferrin excluded iron deficiency anemia
Normal porphyrin levels (Beta thalassemia) vs. elevated (iron deficiency/lead poisoning)
Hemoglobin Electrophoresis: Type and amounts of hemoglobin in red blood cells
Hemoglobin types:
Hemoglobin A: 95-98% (adults)
Hemoglobin A2: 2-3% (adults)
Hemoglobin F: < 2% (adults)
Findings in Thalassemia:
Beta Thalassemia Major: High Hemoglobin F and A2, low/absent Hemoglobin A
Beta Thalassemia Minor: Mild increase in Hemoglobin A2, mild decrease in Hemoglobin A
Hemoglobin H: Seen in Hemoglobin H alpha thalassemia
DNA Testing: Not routine, confirms gene mutations; important for fetal diagnosis in high-risk cases
Additional Evaluations
Regular system evaluations if diagnosed:
Biliary Tract and Gallbladder Imaging: Monitor possible complications
Abdominal Ultrasonography: Regular monitoring
Cardiac MRI: Assess heart condition
Serum Hormone Measurements: Regularly check for imbalances
Conclusion
Importance of regular evaluations for diagnosed patients