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Abnormal Red Cell Metabolism
Published in Harold R. Schumacher, William A. Rock, Sanford A. Stass, Handbook of Hematologic Pathology, 2019
This patient has pyruvate kinase deficiency. Several hereditary red cell enzyme defects can result in nonspherocytic hemolytic anemia. Common among those are G6PD, pyruvate kinase (PK), and hexose kinase (HK) deficiencies. Osmotic fragility is normal in all of the above deficiencies. Autohemolysis test after 48-hr incubation is often abnormal in PK deficiency and HK deficiency. However, the abnormality is corrected with glucose or ATP in HK deficiency, and with ATP only in PK deficiency. The defect should be confirmed by quantitative enzyme levels. Splenectomy should be reserved only for serious cases: It is not curative, but it reduces the transfusion requirement.
The spleen and lymph nodes
Published in Michael Gaunt, Tjun Tang, Stewart Walsh, General Surgery Outpatient Decisions, 2018
Indications include the following. Hereditary spherocytosis.Idiopathic thrombocytopenia purpura.Autoimmune haemolytic anaemia, genetic defects of red cells, e.g. pyruvate kinase deficiency.Gastro-oesophageal devascularisation procedures for oesophageal varices.
Case 8
Published in Atul B. Mehta, Keith Gomez, Clinical Haematology, 2017
The commonest of the inherited glycolytic pathway enzymopathies, and the diagnosis in this case, is pyruvate kinase deficiency. The auto-haemolysis test is of historical and theoretical interest, and most laboratories would proceed directly to enzyme assay followed by DNA analysis to define the specific mutation. Even so, this is a rare disease, with less than 300 cases reported worldwide.
An evaluation of mitapivat for the treatment of hemolytic anemia in adults with pyruvate kinase deficiency
Published in Expert Review of Hematology, 2022
Andrew B. Song, Hanny Al‐Samkari
Pyruvate kinase deficiency (PKD) is a hereditary red blood cell (RBC) disorder that causes chronic hemolytic anemia. PKD was first discovered in the 1960s through a series of seminal studies clarifying the link between glycolysis, hemolytic anemia, and the specific deficiency of the pyruvate kinase enzyme [1–4]. We now understand that the pathogenesis of PKD is due to autosomal recessive mutations in the PKLR gene encoding the RBC pyruvate kinase enzyme. There are four PK isoenzymes in total: the PKLR gene encodes the L (liver) and R (RBC) isoenzymes, while the PKM gene encodes the M1 and M2 (muscle) isoenzymes. As the final enzymatic step in glycolysis, the PK enzyme catalyzes conversion of phosphoenolpyruvate (PEP) to pyruvate. Because mature RBCs are not capable of aerobic metabolism and largely rely on glycolysis for critical anaerobic generation of ATP, abnormalities in PK activity result in RBC ATP deficiency causing RBC dehydration, loss of cell membrane plasticity, and ultimately premature destruction by hemolytic anemia and ineffective erythropoiesis. Reticulocytes are exceptionally susceptible to dehydration and injury in the hypoxic spleen due to the transition from oxidative phosphorylation to glycolysis requiring large amounts of ATP [5].
Hb Calgary (HBB: c.194G>T): A Highly Unstable Hemoglobin Variant with a β-Thalassemia Major Phenotype
Published in Hemoglobin, 2021
Georgina Martin, Runa M. Grimholt, Doan Le, Anne G. Bechensteen, Olav Klingenberg, Bente Fjeld, Thomas Fourie, Renee Perrier, Melanie Proven, Shirley J. Henderson, Noémi B. A. Roy
The first patient was a Caucasian boy from Canada who was admitted to the Alberta Children’s Hospital Neonatal Intensive Care Unit (NICU), Calgary, Canada, on his first day of life with a Hb level of 7.6 g/dL, a relative reticulocytosis, elevated unconjugated bilirubin and lactate dehydrogenase (LDH) (Table 1). Complete blood count (CBC) was performed on a DX4 800 Hematology Analyzer (Beckman Coulter, Brea, CA, USA) and biochemical parameters were analyzed using a Roche Cobas 6000 (Roche Diagnostics GmbH, Mannheim, Germany). The mother and infant were both blood group O+ and the direct antiglobulin test was negative. Testing was done for hereditary spherocytosis by the Eosin-5-Maleimide flow cytometry test and was negative. Testing for glucose-6-phosphate dehydrogenase (G6PD) deficiency and pyruvate kinase deficiency was done by fluorescent screening and results from these were within the normal range. He was given a packed red blood cell (PRBC) transfusion shortly after birth and post-transfusion Hb level was 17.4 g/dL. He was observed as an outpatient and at 3 weeks of age, his Hb once again dropped, and he required another blood transfusion. At this time, he had evidence of reticulocytopenia, and his bilirubin and LDH had normalized. He continued to require blood transfusions every 3–4 weeks.
Screening tools for hereditary hemolytic anemia: new concepts and strategies
Published in Expert Review of Hematology, 2021
Elisa Fermo, Cristina Vercellati, Paola Bianchi
Differential diagnosis between HS and CDA or erythroenzymopathies may be challenging and has been evaluated by automatic analyzers in a few cohorts of patients. A characteristic increase in RDW has been observed CDAII, and an increase of hemoglobin distribution width (HDW) in HS. As a result, the RDW/HDW ratio is significantly greater in CDA than HS [31]. Another algorithm based on Hb level, reticulocyte count, IRF, MicroR, and %Hypo-He was studied in a cohort of HS patients compared with a control group including pyruvate kinase deficient cases, sickle cell diseases and trait, β-thalassemia minor, iron deficiencies, giving a sensitivity/specificity of 100% and 92.1% as screening tool for HS and of 100 and 96.5%, respectively, as screening tool for pyruvate kinase deficiency [32]. Finally, the combined evaluation analysis of MCHC, MCV, MSCV, mean reticulocyte volume (MRV) was shown to be helpful in differential diagnosis between HS and immune hemolytic anemias [33]. Table 1 resumes some studies on the automated red cell parameters in the prediction and differential diagnosis of HS reported in literature.