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## Thalassemia - Laboratory Diagnosis and Symptoms Patient usually asymptomatic. Have less Hb S than those with sickle cell trait and have increased Hb F. ### Laboratory Diagnosis of Thalassemia - Need to start with patient's individual history and family history. - Ethnic background is important...

## Thalassemia - Laboratory Diagnosis and Symptoms Patient usually asymptomatic. Have less Hb S than those with sickle cell trait and have increased Hb F. ### Laboratory Diagnosis of Thalassemia - Need to start with patient's individual history and family history. - Ethnic background is important. - Perform physical examination: - Pallor indicating anemia. - Jaundice indicating hemolysis. - Splenomegaly due to pooling of abnormal cells. - Skeletal deformity, especially in beta thalassemia major. ### Thalassemia Signs and Symptoms - Weakness, Fatigue, and Malaise - Deformities of facial bones - Urine is dark and concentrated - Pallor - Slow Growth - Abdominal Swelling - Massive bone marrow expansion occurs ### Blood picture - Mild anemia or normal Hb level - **In carrier state (thalassemia minor or trait)** - Low MCV and MCH. Normal to slightly decreased MCHC. - Normal or near normal RDW - RBC count is typically above 5 x 109/µL - Elevated RBC count with decreased MCV, normal RDW differentiate thalassemia from iron deficiency anemia - **In thalassemia major or intermedia** - Moderate to marked anemia - Low MCV and MCH. Normal to slightly decreased MCHC. - High RDW - Decreased RBC count (due to hemolysis) - **PB stained smear shows:** - Microcytic, hypochromic RBCs (except in carrier states). - Moderate to marked anisopoikilocytosis. - Many target cells, tear drops and elliptocytes. - Polychromasia, basophilic stippling, and normoblasts.