Transcription of Laboratory Diagnosis of Hemoglobinopathies and Thalassemia
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Laboratory Diagnosis of Hemoglobinopathies and Thalassemia
Laboratory Diagnosis of Hemoglobinopathies and Thalassemia Medical Director, Hematopathology and RBC Laboratory ARUP Laboratories Assistant Professor of Pathology University of Utah Department of Pathology Archana M Agarwal, MD Learning Objectives Understand the pathophysiology of Hemoglobinopathies Recognize the most important expected test results in Hemoglobinopathies and thalassemias Understand different testing methodologies To be able to direct ordering physician to appropriate tests for these disorders Hemoglobin (Heme+Globin) Hemoglobin is a tetramer composed of 4 globin molecules; 2 alpha globins and 2 beta globins or beta like globins The alpha globin chain is composed of 141 amino acids and the beta globin chain is composed of 146 amino acids Each globin chain also contains one heme molecule Ribbon Diagram of Hemoglobin Chromosome 16 G A HS 1-6 A G HS 1-6 Chromosome 11 Genetics of Globin Genes Hemoglobin-Development Switching Hemoglobin Structure % of Normal Adult Hb Hb A 2 2 >96% Hb A2 2 2 ~ Hb F 2 2 <1% Normal Adult Human Hemoglobin Composition Hemoglobinopathy (structural) Due to mutations in either alpha or beta globin Structural substitution, addition or deletion of one or more AAs i
Diagnosis • Indications for Testing – Hemolytic anemia; family history of hemoglobinopathy • Laboratory Testing – Initial testing – CBC with peripheral smear – Polychromasia, spherocytes, schistocytes, sickle cells, Heinz bodies, basophilic stippling; however, the lack of any of these cells does not rule out hemolytic anemia
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