Article
Clinical utility of next-generation sequencing in the diagnosis of hereditary haemolytic anaemias.
British journal of haematology - 1 Sept 2016
Agarwal Archana M, Nussenzveig Roberto H, Reading Noel S, Patel Jay L, Sangle Nikhil, Salama Mohamed E, Prchal Josef T, Perkins Sherrie L, Yaish Hassan M, Christensen Robert D
Abstract excerpt
Hereditary haemolytic anaemias are genetically and phenotypically heterogeneous disorders characterized by increased red cell destruction, with consequences ranging from innocuous to severe life-threatening anaemia. Diagnostic laboratories endeavour to assist clinicians reach the exact patient diagnosis by using tests principally based on morphological and biochemical techniques. However, these routine studies...
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