Hemoglobinopathy Testing: What are the Key Points a Lab Should Consider?
Abacus dx and Sebia are pleased to present an education webinar on Hemoglobinopathy Testing.
Hemoglobinopathy Testing: What are the Key Points a Lab Should Consider?
Speaker biography
Dr. Cornelis L. Harteveld is a PhD in molecular genetics of alpha-thalassemia, Associate Professor of Clinical Genetics, Head of the Dutch Reference Lab on Hemoglobinopathies at the LUMC and responsible for the laboratory.
Abstract
Capillary Electrophoresis plays an important role in the diagnosis of haemoglobinopathy carriers and patients. The general flow is the determination of the red blood cell indices to establish a microcytic hypochromic anaemia and Hb-typing by separation and quantitation of the different haemoglobin fractions. DNA analysis is the final confirming step to complete the diagnosis. In the era of Next Generation Sequencing, many genetic labs have employed Whole Exome Sequencing and Inherited Disease panels as tools to analyse DNA and detect disease causing mutation. However, functional assays are considered to be important to establish the function and effects of variants of uncertain significance. Functional assays in hemoglobinopathies are the hematology and the Hb-typing, either by Capillary Electrophoresis or HPLC, to be completed by DNA analysis as will be demonstrated during the talk.
Presentation overview
- Describe the basic construction, genetics, and inheritance of haaemoglobin and haemoglobinopathies
- Describe the clinical impact of several haemoglobinopathies and the importance of prevention and management
- Demonstrate the three-part flowchart of haemoglobinopathy screening, including Capillary Electrophoresis and HPLC techniques
- Demonstrate the use of the screening flowchart through several high-complexity examples of clinically significant haemoglobinopathies.
