Consensus document for the diagnosis and treatment of pyruvate kinase deficiency.

Pyruvate kinase (PK) deficiency is the second most frequent enzymopathy and the most common cause of chronic hereditary non-spherocytic haemolytic anaemia. Its global prevalence is underestimated due to low clinical suspicion of mild cases, associated with difficulties in the performance and interpretation of PK enzymatic activity assays. With the advent of next generation sequencing techniques, a better diagnostic approach is achieved.

Autoimmune haemolytic anaemias: A retrospective study of 93 patients.

Introduction: Autoimmune haemolytic anaemia (AIHA) is an infrequent and heterogeneous disease in its pathophysiology and clinical behaviour, therefore it is generally managed empirically.

Patients And Methods: We conducted an observational, retrospective and multicentre study of 93 patients diagnosed with AHAI in 9 Spanish hospitals between 1987 and 2017, with a median follow-up of 28 months.

Results: Median age of 67 years; 85% AHAI for hot antibodies and 64% primary AHAI.

[Paroxysmal nocturnal hemoglobinuria therapy with eculizumab: Spanish experience].

Background And Objectives: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired clonal disease characterized by complement-mediated hemolysis, bone marrow failure and thrombosis. Eculizumab is a humanized monoclonal antibody that blocks the cytolytic component of the complement system by binding to complement C5.

Material And Methods: We report the results of eculizumab treatment in 25 PNH patients from different centers in Spain.