Hemoglobinopathy testing : what are the key points a lab should consider ?

Abstract

Capillary Electrophoresis plays an important role in the diagnosis of hemoglobinopathy carriers and patients. The general flow is the determination of the red blood cell indices to establish a microcytic hypochromic anemia and Hb-typing by separation and quantitation of the different hemoglobin 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 analyze 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.

Speakers's biography

Dr Cornelis L. Harteveld is clinical molecular and biochemical geneticist and is presently employed as Associate Professor at the department of Clinical Genetics/LDGA at the Leiden University Medical Centre (LUMC) working on hemoglobinopathies. The principle areas of interest are phenotype-genotype correlation and the technical improvement of diagnostics of thalassemia and haemoglobin variants. He is responsible for the diagnosis of carriers and patients and for prenatal diagnosis for Hemoglobinopathies in the Dutch Reference Laboratory for Hemoglobinopathies within the department of Clinical Genetics at the Leiden University Medical Centre in Leiden, The Netherlands. The institute is acknowledged as an Expert Centre for Rare Disorders, more specifically in Hemoglobinopathies, and member of the European Reference Network for Rare Blood Disorders EuroBloodNet.