Search Our Scientific Publications & Authors

Am J Hematol 2020 Jul 3. Epub 2020 Jul 3.

Dana-Farber Boston Children's Cancer and Blood Disorder Center, Harvard Medical School, Boston, MA.

J Pediatr Hematol Oncol 2020 Jun 23. Epub 2020 Jun 23.

Comprehensive Transplant Center, The Ohio State University Wexner Medical Center, Columbus, OH.

We present the case of a successful liver transplant in a young adult patient with cholestasis and cirrhosis secondary to severe pyruvate kinase (PK) deficiency. Liver transplant resulted in resolution of liver dysfunction, decreased need for blood transfusions and eligibility for bone marrow transplantation. This case represents the third reported patient in the literature with severe PK deficiency who successfully underwent liver transplant as a result of profound cholestasis and liver failure. Read More

Int J Lab Hematol 2020 Jun;42 Suppl 1:107-112

University of Utah-Pathology, Salt Lake City, Utah.

Anemia is a major health burden worldwide and affects approximately one-third of world's population. It is not a diagnosis; it is a manifestation of an underlying pathophysiology leading to either decreased hemoglobin (Hb), hematocrit (Hct), or red blood cells (RBCs). Iron deficiency anemia is still the most common cause of anemia worldwide. Read More

Hematol Rep 2020 May 15;12(1):8305. Epub 2020 May 15.

Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.

Pyruvate kinase deficiency (PKD) is the rare glycolytic enzyme defect causing hemolytic anemia. Treatments are mainly red cell transfusion and/or splenectomy, leading to iron overload. Allogeneic bone marrow transplantation (BMT) is alternatively curative treatment for severe PKD. Read More

Br J Haematol 2020 May 28. Epub 2020 May 28.

Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA, USA.

Diagnosis of pyruvate kinase deficiency (PKD), the most common cause of hereditary non-spherocytic haemolytic anaemia, remains challenging in routine practice and no biomarkers for clinical severity have been characterised. This prospective study enrolled 41 patients with molecularly confirmed PKD from nine North American centres to evaluate the diagnostic sensitivity of pyruvate kinase (PK) enzyme activity and PK:hexokinase (HK) enzyme activity ratio, and evaluate the erythrocyte PK (PK-R) protein level and erythrocyte metabolites as biomarkers for clinical severity. In this population not transfused for ≥90 days before sampling, the diagnostic sensitivity of the PK enzyme assay was 90% [95% confidence interval (CI) 77-97%], whereas the PK:HK ratio sensitivity was 98% (95% CI 87-100%). Read More

Br J Haematol 2020 05 10;189(4):635-639. Epub 2020 May 10.

Guys and St Thomas's NHS Trust, London, UK.

With the developing COVID-19 pandemic, patients with inherited anaemias require specific advice regarding isolation and changes to usual treatment schedules. The National Haemoglobinopathy Panel (NHP) has issued guidance on the care of patients with sickle cell disease, thalassaemia, Diamond Blackfan anaemia (DBA), congenital dyserythropoietic anaemia (CDA), sideroblastic anaemia, pyruvate kinase deficiency and other red cell enzyme and membrane disorders. Cascading of accurate information for clinicians and patients is paramount to preventing adverse outcomes, such as patients who are at increased risk of fulminant bacterial infection due to their condition or its treatment erroneously self-isolating if their fever is mistakenly attributed to a viral cause, delaying potentially life-saving antibiotic therapy. Read More

Eur J Haematol 2020 Apr 12. Epub 2020 Apr 12.

Agios Pharmaceuticals Inc., Cambridge, MA, USA.

Objectives: Pyruvate kinase deficiency (PK deficiency) is a rare disorder caused by compound heterozygosity or homozygosity for > 300 mutations in the PKLR gene. To understand PK deficiency prevalence, we conducted a systematic literature review.

Methods: We queried Embase and Medline for peer-reviewed references reporting PK deficiency prevalence/incidence, PKLR mutant allele frequency (MAF) among the general population, or crude results from which these metrics could be derived. Read More

Haematologica 2020 Jul 9;105(7):e373-e375. Epub 2020 Apr 9.

Danish Center for Hemoglobinopathies, Department of Hematology, Herlev and Gentofte Hospital, Herlev

Haematologica 2020 Mar 12. Epub 2020 Mar 12.

Dana-Farber/Boston Children's Cancer and Blood Disorder Center, Harvard Medical School, Boston, USA.

Pyruvate kinase deficiency (PKD) is the most common cause of chronic hereditary nonspherocytic hemolytic anemia and results in a broad spectrum of disease. Diagnosis of PKD requires a high index of suspicion and judicious use of laboratory tests that may not always be informative, including PK enzyme assay and genetic analysis of the PKLR gene. A significant minority of patients with PKD have occult mutations in non-coding regions of PKLR that are missed on standard genetic tests. Read More

Sleep Med 2020 05 28;69:100-102. Epub 2020 Jan 28.

Neurology and Sleep Unit, La Luz Clinic, Quironsalud, Madrid, Spain.

Am J Hematol 2020 05 6;95(5):472-482. Epub 2020 Mar 6.

Department of Pediatrics, University of Würzburg, Würzburg, Germany.

Pyruvate kinase (PK) deficiency is a rare recessive congenital hemolytic anemia caused by mutations in the PKLR gene. This study reports the molecular features of 257 patients enrolled in the PKD Natural History Study. Of the 127 different pathogenic variants detected, 84 were missense and 43 non-missense, including 20 stop-gain, 11 affecting splicing, five large deletions, four in-frame indels, and three promoter variants. Read More

J Mol Diagn 2020 Apr 6;22(4):579-590. Epub 2020 Feb 6.

Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, India. Electronic address:

Determination of the cause of inherited hemolysis is based on clinical and stepwise conventional laboratory tests. Patients with obscure etiology require genetic diagnosis, which is time-consuming, expensive, and laborious, mainly because of numerous causal genes. This study enrolled 43 patients with clinical and laboratory evidence of unexplained hemolytic anemia. Read More

Haematologica 2020 Jan 23. Epub 2020 Jan 23.

Laboratory of Clinical Chemistry and Haematology, University Medical Center Utrecht, The Netherlands;

Pyruvate kinase (PK) deficiency is a rare hereditary disorder affecting red cell (RBC) glycolysis, causing changes in metabolism including a deficiency in ATP. This affects red cell homeostasis, promoting premature removal of RBCs from the circulation. In this study we characterized and evaluated the effect of AG-348, an allosteric activator of PK that is currently in clinical trials for treatment of PK deficiency, on RBCs and erythroid precursors from PK-deficient patients. Read More

Eur J Haematol 2020 May 24;104(5):427-434. Epub 2020 Feb 24.

Agios Pharmaceuticals Inc., Cambridge, MA, USA.

Introduction: Currently recommended patient-reported outcome (PRO) measures for patients with pyruvate kinase (PK) deficiency are non-disease-specific. The PK Deficiency Diary (PKDD) and PK Deficiency Impact Assessment (PKDIA) were developed to be more targeted measures for capturing the symptoms and impacts of interest to this patient population.

Methods: The instruments were developed based on concept elicitation interviews with 21 adults and modified based on 20 cognitive interviews. Read More

Clin Biochem Rev 2019 Nov;40(4):167-174

Chemical Pathology, Pathology Queensland, Herston, Qld 4029, Australia.

Carbohydrate intolerance is one of several syndromes and diseases which together are known as malabsorption syndromes. These include small intestinal bacterial overgrowth (SIBO), coeliac disease, intestinal lymphangiectasia, short bowel syndrome, tropical sprue and some inherited metabolic disorders such as galactosaemia and pyruvate kinase deficiency. Specifically, the malabsorption of sugars affects morbidity for millions of sufferers across the world. Read More

Int J Lab Hematol 2020 04 20;42(2):e84-e87. Epub 2019 Nov 20.

Department of Pathology and Lab Medicine, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences, Tianjin, China.

Front Physiol 2019 9;10:1294. Epub 2019 Oct 9.

Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milan, Italy.

Hepcidin, the master regulator of systemic iron homeostasis, tightly influences erythrocyte production. High hepcidin levels block intestinal iron absorption and macrophage iron recycling, causing iron restricted erythropoiesis and anemia. Low hepcidin levels favor bone marrow iron supply for hemoglobin synthesis and red blood cells production. Read More

Zhonghua Xue Ye Xue Za Zhi 2019 09;40(9):749

Department of Hematology, Hainan General Hospital, Haikou 570311, China.

PLoS One 2019 16;14(10):e0223775. Epub 2019 Oct 16.

Division of Hematopoietic Innovative Therapies, Centro de Investigaciones Energéticas Medioambientales y Tecnológicas/Centro de Investigación Biomédica en Red de Enfermedades Raras (CIEMAT/CIBERER), Madrid, Spain.

Pyruvate Kinase Deficiency (PKD) is a rare erythroid metabolic disease caused by mutations in the PKLR gene, which encodes the erythroid specific Pyruvate Kinase enzyme. Erythrocytes from PKD patients show an energetic imbalance and are susceptible to hemolysis. Gene editing of hematopoietic stem cells (HSCs) would provide a therapeutic benefit and improve safety of gene therapy approaches to treat PKD patients. Read More

N Engl J Med 2019 09;381(10):933-944

From the Dana-Farber/Boston Children's Cancer and Blood Disorders Center and Harvard Medical School, Boston (R.F.G.), and Agios Pharmaceuticals, Cambridge (A.J.B., S.B., L.H., C.K., P.H., M.-H.J., C.B.) - all in Massachusetts; Hôpital Saint Vincent de Paul, Lille (C.R.), and Unité des Maladies Génétiques du Globule Rouge, Centre Hospitalier Universitaire Henri Mondor, Créteil (F.G.) - both in France; Hammersmith Hospital, Imperial College Healthcare NHS Trust, London (D.M.L.); Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan (W.B.); Central Pennsylvania Clinic, Belleville (D.H.M.), and Children's Hospital of Philadelphia and Perelman School of Medicine of the University of Pennsylvania, Philadelphia (J.L.K.); Van Creveldkliniek, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands (E.J.B.); University of Utah, Salt Lake City (H.Y.); Wayne State University School of Medicine, Children's Hospital of Michigan, Detroit (Y.R.); University of Toronto, Toronto (K.H.M.K.); Weill Cornell Medical College, New York (S.S.); Bruce A. Silver Clinical Science and Development, Dunkirk, MD (B.S.); and Stanford University School of Medicine, Palo Alto, CA (B.G.).

Background: Pyruvate kinase deficiency is caused by mutations in and leads to congenital hemolytic anemia. Mitapivat is an oral, small-molecule allosteric activator of pyruvate kinase in red cells.

Methods: In this uncontrolled, phase 2 study, we evaluated the safety and efficacy of mitapivat in 52 adults with pyruvate kinase deficiency who were not receiving red-cell transfusions. Read More

Acta Neurol Belg 2019 Aug 26. Epub 2019 Aug 26.

Division of Child Neurology and Psychiatry, Department of Human Neurosciences, Sapienza University of Rome, Via dei Sabelli 108, 00141, Rome, Italy.

The author regret that, in the section "Dietary treatments" the sentence "Ketogenic diet is the gold standard therapy for Glut 1 deficiency and pyruvate kinase deficiency but it can be also applied in severe drug-resistant epileptic encephalopathies [4]." is not correct. Read More

Cureus 2019 Jun 6;11(6):e4849. Epub 2019 Jun 6.

Oncology, Allegheny Health Network, Pittsburgh, USA.

Extramedullary hematopoiesis is common in chronic hemolytic anemias such as pyruvate kinase deficiency. It is commonly associated with hepatosplenomegaly or lymphadenopathy; however, it can rarely also present as a mass in the chest, abdomen, or paraspinal region. Here, we present a case of an adult patient with pyruvate kinase deficiency and history of splenectomy. Read More

Int J Hematol 2019 Nov 10;110(5):618-626. Epub 2019 Aug 10.

Department of Hematogenetics, ICMR-National Institute of Immunohematology, 13th Floor, NMS Building, KEM Hospital Campus, Parel, Mumbai, Maharashtra, 400012, India.

Most patients with anemia are diagnosed through clinical phenotype and basic laboratory testing. Nonetheless, in cases of rare congenital anemias, some patients remain undiagnosed despite undergoing an exhaustive workup. Genetic testing is complicated by the large number of genes that are involved in rare anemias, due to similarities in the clinical presentation. Read More

Br J Haematol 2019 11 5;187(3):386-395. Epub 2019 Jul 5.

Department of Paediatrics, University of Würzburg, Würzburg, Germany.

Hereditary spherocytosis (HS) is characterised by increased osmotic fragility and enhanced membrane loss of red blood cells (RBC) due to defective membrane protein complexes. In our diagnostic laboratory, we observed that pyruvate kinase (PK) activity in HS was merely slightly elevated with respect to the amount of reticulocytosis. In order to evaluate whether impaired PK activity is a feature of HS, we retrospectively analysed laboratory data sets from 172 unrelated patients with HS, hereditary elliptocytosis (HE), glucose-6-phosphate dehydrogenase (G6PD) or PK deficiency, sickle cell or haemoglobin C disease, or β-thalassaemia minor. Read More

Front Physiol 2019 7;10:467. Epub 2019 May 7.

UOC Ematologia, UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy.

Glucose-6-phosphate isomerase (GPI, EC 5.3.1. Read More

Front Physiol 2019 16;10:386. Epub 2019 Apr 16.

Theoretical Medicine and Biosciences, Saarland University, Homburg, Germany.

Congenital haemolytic anaemias are inherited disorders caused by red blood cell membrane and cytoskeletal protein defects, deviant hemoglobin synthesis and metabolic enzyme deficiencies. In many cases, although the causing mutation might be known, the pathophysiology and the connection between the particular mutation and the symptoms of the disease are not completely understood. Thus effective treatment is lagging behind. Read More

Haematologica 2019 09 4;104(9):e428-e431. Epub 2019 Apr 4.

Division of Hematology/Oncology, Department of Pediatrics, Wayne State University - School of Medicine, and Children's Hospital of Michigan

Br J Haematol 2019 03 25;184(5):721-734. Epub 2019 Jan 25.

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Novel therapies in development have brought a new focus on pyruvate kinase deficiency (PKD), the most common congenital haemolytic anaemia due to a glycolytic enzyme deficiency. With an improved recognition of its clinical presentation and understanding of the diagnostic pathway, more patients are likely to be identified with this anaemia. Complications, including gallstones and non-transfusion-related iron overload, require monitoring for early diagnosis and management. Read More

Intractable Rare Dis Res 2018 Nov;7(4):258-263

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences (SGPGIMS), Lucknow, India.

Thalassemia and other hemoglobinopathies together with red cell enzymopathies are a common cause of anemia, which can be prevented by population screening and genetic counseling. This study was designed to screen the anemic patients for thalassemia, structural hemoglobin variants and red cell enzymopathies. A total of 17047 cases were evaluated from 2009 to 2018 for thalassemia, hemoglobin variants, glucose 6 phosphate dehydrogenase deficiency, pyruvate kinase deficiency and hereditary spherocytosis. Read More

Qual Life Res 2019 Feb 19;28(2):399-410. Epub 2018 Nov 19.

Haematology Unit, Grande Ospedale Metropolitano Bianchi Melacrino Morelli, Reggio Calabria, Italy.

Purpose: Pyruvate kinase deficiency (PKD) is a rare disease and understanding of its epidemiology and associated burden remains limited. With no current curative therapy, clinical manifestations can be life threatening, clinically managed by maintaining adequate hemoglobin levels through transfusion and subsequent support, but with frequent complications. Treatment goals are to maintain/improve the patient's quality of life. Read More

Am J Hematol 2019 01 28;94(1):149-161. Epub 2018 Nov 28.

Department of Clinical Chemistry and Haematology, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.

Pyruvate kinase deficiency (PKD) is the most common enzyme defect of glycolysis and an important cause of hereditary, nonspherocytic hemolytic anemia. The disease has a worldwide geographical distribution but there are no verified data regarding its frequency. Difficulties in the diagnostic workflow and interpretation of PK enzyme assay likely play a role. Read More

Ann Biol Clin (Paris) 2018 Oct;76(5):493-503

Groupement de coopération sanitaire de Saintonge, Centres hospitaliers de Saintes et Royan, Vaux-sur-mer, France, Service de médecine interne, Centre hospitalier de Royan, Vaux-sur-mer, France.

The most frequent causes of hemolytic anemias are immune or infectious diseases, drug induced hemolysis, thrombotic microangiopathies, hereditary spherocytosis, glucose-6-phosphate dehydrogenase or pyruvate kinase deficiencies, thalassemia's and sickle cell disease. Sometimes no cause is found because a rarer etiology is involved. The goal of this review is to remember some unfrequent constitutional or acquired causes and to point out difficulties to avoid wrong interpretations of analysis results. Read More

Haematologica 2019 02 13;104(2):e51-e53. Epub 2018 Sep 13.

Dana-Farber Boston Children's Cancer and Blood Disorder Center, Boston, MA, USA

Int J Lab Hematol 2018 Dec 5;40(6):697-703. Epub 2018 Sep 5.

Department of Biological Hematology, Rouen University Hospital, Rouen, France.

Introduction: Development of additional parameters for complete blood count has emerged in recent hematology analyzers, leading to many publications. However, few studies have been conducted on advanced RBC parameters and hemolytic anemias. We investigated the interest of Sysmex unique parameters, MicroR and HypoHe, as well as the immature fraction of reticulocytes (IRF) in combination with complete blood and reticulocyte count, for screening hereditary spherocytosis (HS) and pyruvate kinase deficiency. Read More

Br J Haematol 2019 05 5;185(3):602-605. Epub 2018 Sep 5.

Van Creveldkliniek, University Medical Centre Utrecht, Utrecht, Netherlands.

Clin Pharmacol Drug Dev 2019 02 9;8(2):246-259. Epub 2018 Aug 9.

Agios Pharmaceuticals, Inc., Cambridge, MA, USA.

Pyruvate kinase deficiency is a chronic hemolytic anemia caused by mutations in PK-R, a key glycolytic enzyme in erythrocytes. These 2 phase 1 randomized, placebo-controlled, double-blind healthy-volunteer studies assessed the safety, tolerability, and pharmacokinetics/pharmacodynamics of AG-348, a first-in-class allosteric PK-R activator. Twelve sequential cohorts were randomized 2:6 to receive oral placebo or AG-348, respectively, as a single dose (30-2500 mg) in the single-ascending-dose (SAD) study (ClinicalTrials. Read More

J Pediatr Hematol Oncol 2019 01;41(1):e1-e2

Division of Pediatric Hematology, Dr. Behçet Uz Children's Hospital, Izmir, Turkey.

Pyruvate kinase deficiency (PKD) is the most common glycolytic defect leading to hemolytic anemia. PKD is caused by the mutations in the PKLR gene; however, the detection of a decreased PK activity should be first measured for rapid diagnosis. We report here the case of a 1-year-old girl with mild hemolysis and PKD. Read More

Zhonghua Nei Ke Za Zhi 2018 Jul;57(7):511-513

Institute of Hematology and Blood Disease Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, State Key Laboratory of Experimental Hematology, Tianjin 300020, China.

Clinical data of 19 patients with congenital pyruvate kinase deficiency were analyzed. Insufficient pyruvate kinase confirmed the diagnosis. Laboratory parameters of hemolysis were summarized. Read More

Eur J Haematol 2018 Dec 28;101(6):758-765. Epub 2018 Sep 28.

Division of Hematology/Oncology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.

Objectives: This study explored how signs and symptoms of pyruvate kinase (PK) deficiency, a rare hemolytic anemia caused by mutations in the PKLR gene, impacts patients' health-related quality of life (HRQoL).

Methods: Interviews with 21 adults with PK deficiency in the United States, Netherlands, and Germany were conducted. Participants were asked to describe signs, symptoms, and impacts of the disease on their daily lives. Read More

Cureus 2018 Apr 13;10(4):e2478. Epub 2018 Apr 13.

Department of Pediatrics, Shanghai Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, CHN.

Congenital non-spherocytic hemolytic anemia (CNSHA) is a rare autosomal recessive condition that presents as a congenital hemolytic anemia. The absence of vital enzymes required for glycolysis such as homozygous glucose phosphate isomerase (GPI) and red blood cell (RBC) nucleotide metabolism predisposes the RBCs to hemolysis. No spherocytosis is seen on peripheral smear as well as no signs of immune-mediated destruction of RBCs. Read More

Pediatr Clin North Am 2018 06;65(3):579-595

Department of Pediatric Hematology/Oncology, Lucile Packard Children's Hospital, Stanford University School of Medicine, 1000 Welch Road # 300, Palo Alto, CA 94304, USA.

Mature red blood cells are reliant on the glycolytic pathway for energy production and the hexose monophosphate shunt for cell protection from oxidative insults. The most common red blood cell enzyme disorders are characterized by hemolysis but with wide clinical variability. Glucose-6-phosphate dehydrogenase deficiency is the most common red cell enzyme disorder worldwide. Read More

Eur J Haematol 2018 Sep 25;101(3):297-304. Epub 2018 Jun 25.

Schneider Children's Medical Center of Israel, Petach Tikva, Israel.

Background: Most patients with anemia are diagnosed through clinical phenotype and basic laboratory testing. Nonetheless, in cases of rare congenital anemias, some patients remain undiagnosed despite undergoing an exhaustive workup. Genetic testing is complicated by the large number of genes involved in rare anemias and the similarities in the clinical presentation of the different syndromes. Read More

Blood 2018 05;131(20):2179-2180

New York Blood Center.

Pediatrics 2018 04;141(Suppl 5):S385-S389

Division of Gastroenterology, Hepatology, and Nutrition, Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montreal, Quebec, Canada;

Pyruvate kinase deficiency (PKD) is the most common cause of congenital nonspherocytic chronic hemolytic anemia, and patients normally present with mild to severe anemia, unconjugated hyperbilirubinemia, and splenomegaly. Only a few reports of PKD have documented its association with severe, progressive liver failure. In all those cases, the patients died before liver transplant (LT) or immediately after transplant. Read More

Blood 2018 05 16;131(20):2183-2192. Epub 2018 Mar 16.

Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.

An international, multicenter registry was established to collect retrospective and prospective clinical data on patients with pyruvate kinase (PK) deficiency, the most common glycolytic defect causing congenital nonspherocytic hemolytic anemia. Medical history and laboratory and radiologic data were retrospectively collected at enrollment for 254 patients with molecularly confirmed PK deficiency. Perinatal complications were common, including anemia that required transfusions, hyperbilirubinemia, hydrops, and prematurity. Read More

Rev Bras Hematol Hemoter 2018 Jan - Mar;40(1):5-11. Epub 2017 Nov 26.

Centro de Hematologia e Hemoterapia da Universidade Estadual de Campinas (HEMOCENTRO/UNICAMP), Campinas, SP, Brazil; Departamento de Medicina Interna da Universidade Estadual de Campinas (UNICAMP), Campinas, SP, Brazil. Electronic address:

Background: Pyruvate kinase deficiency is a hereditary disease that affects the glycolytic pathway of the red blood cell, causing nonspherocytic hemolytic anemia. The disease is transmitted as an autosomal recessive trait and shows a marked variability in clinical expression. This study reports on the molecular characterization of ten Brazilian pyruvate kinase-deficient patients and the genotype-phenotype correlations. Read More

Rev Bras Hematol Hemoter 2018 Jan - Mar;40(1):1-2. Epub 2017 Dec 6.

Faculdade de Ciências Médicas da Santa Casa de São Paulo (FCMSCSP), São Paulo, SP, Brazil. Electronic address:

Hemoglobin 2018 Jan 8;42(1):43-46. Epub 2018 Feb 8.

a Department of Haematogenetics , National Institute of Immunohaematology, Indian Council of Medical Research , Mumbai , India.

Hemoglobinopathies are a group of inherited single gene disorders. There are reports on hemoglobin (Hb) variants identified in the tribal and non-tribal populations of Tripura State in northeastern India. This study aimed to determine the spectrum of hemoglobinopathies and enzymopathies by newborn screening in Tripura State and assess the extent of neonatal jaundice. Read More

Pediatr Transplant 2018 03 18;22(2). Epub 2018 Jan 18.

Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Guangxi Key Laboratory of Thalassemia Research, Nanning, Guangxi Province, China.

This study's purposes were to diagnose intractable hemolytic anemia and to provide guiding treatment for the affected family members. We performed NGS in a panel of 600 genes for blood diseases on a patient with obscure hemolytic anemia and her parents. We confirmed the diagnosis of pyruvate kinase deficiency, identified a novel homozygous mutation of the PKLR gene (NM_000298: exon 6: c. Read More

J Pediatr Hematol Oncol 2018 10;40(7):e458-e460

Department of Pediatric Hematology and Oncology, University of Health Sciences, Ankara Child Health and Diseases Hematology Oncology Training and Research Hospital, Ankara, Turkey.

Pyruvate kinase (PK) deficiency is the most common defect of the glycolytic pathway leading to congenital hemolytic anemia. We present the case of an 18-year-old boy with chronic nonspherocytic hemolytic anemia, who had remarkable sensitivity to heat. Moreover, the patient showed clinical impairment in the last year. Read More