2,915 results match your criteria Spherocytosis Hereditary

Ultrasound detection of spontaneous rupture of accessory spleen: A case report.

Radiol Case Rep 2022 Jul 6;17(7):2367-2369. Epub 2022 May 6.

Department of Medicine and Science of Aging, Internal Medicine, 'G. D'Annunzio' University, Chieti, Italy.

Accessory spleen rupture can induce acute abdominal bleeding following minimal trauma or by atraumatic mechanisms. Spleen rupture is more frequent in pediatric patients and those affected by hematological diseases. We described the case of a 59-year-old male patient affected by hereditary spherocytosis referred to the emergency department for abdominal left side pain. Read More

View Article and Full-Text PDF

Analysis of MRI-derived spleen iron in the UK Biobank identifies genetic variation linked to iron homeostasis and hemolysis.

Am J Hum Genet 2022 May 10. Epub 2022 May 10.

Research Centre for Optimal Health, School of Life Sciences, University of Westminster, London, UK. Electronic address:

The spleen plays a key role in iron homeostasis. It is the largest filter of the blood and performs iron reuptake from old or damaged erythrocytes. Despite this role, spleen iron concentration has not been measured in a large, population-based cohort. Read More

View Article and Full-Text PDF

Hydrops fetalis and failure of hematopoietic stem cell transplantation - A long route to the diagnosis of SPTA1-associated hereditary spherocytosis.

Blood Cells Mol Dis 2022 Jul 16;95:102664. Epub 2022 Apr 16.

Department of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic. Electronic address:

View Article and Full-Text PDF

Screening for hereditary spherocytosis in daily practice: what is the best algorithm using erythrocyte and reticulocyte parameters?

Ann Hematol 2022 Apr 22. Epub 2022 Apr 22.

Department of Clinical Chemistry. LHUB-ULB, Université Libre de Bruxelles (ULB), 322, Rue Haute, 1000, Brussels, Belgium.

Hereditary spherocytosis (HS) is the most common inherited chronic haemolytic anaemia in Northern Europe. During the last decade, additional erythrocyte and reticulocyte parameters have been developed on last-generation haematology analysers, leading to many publications about their effectiveness as a HS screening tool. For the first time on an independent cohort, we evaluated and compared the effectiveness of six published algorithms for the screening of HS using the UniCel DxH800 (Beckman-Coulter) and the XN-9000 (Sysmex) and determined which algorithm could be the most suitable in our daily clinical practice. Read More

View Article and Full-Text PDF

Targeted next-generation sequencing revealed a novel homozygous mutation in the gene causes severe haemolysis associated with Inborn Errors of Immunity in an Indian family.

Hematology 2022 Dec;27(1):441-448

Department of Pediatric Immunology and Leukocyte Biology, ICMR- National Institute of Immunohaematology, Parel, Mumbai, India.

Objectives: LPS-responsive beige-like anchor protein (LRBA) deficiency abolishes LRBA protein expression due to biallelic mutations in the LRBA gene that lead to autoimmune manifestations, inflammatory bowel disease, hypogammaglobulinemia in early stages, and variable clinical manifestations.

Materials And Methods: Mutational analysis of the gene was performed in Indian patients using targeted Next Generation Sequencing (t-NGS) and confirmed by Sanger sequencing using specific primers of exons 53. Then, bioinformatics analysis and protein modeling for the novel founded mutations were also performed. Read More

View Article and Full-Text PDF
December 2022

Concomitant Hereditary Spherocytosis and Pyruvate Kinase Deficiency in a Spanish Family with Chronic Hemolytic Anemia: Contribution of Laser Ektacytometry to Clinical Diagnosis.

Cells 2022 03 28;11(7). Epub 2022 Mar 28.

Pediatric Hematology Department, University Hospital Mútua Terrassa Terrassa, 08221 Barcelona, Spain.

Background: Hereditary spherocytosis (HS) and pyruvate kinase deficiency (PKD) are the most common causes of hereditary chronic hemolytic anemia. Here, we describe clinical and genetic characteristics of a Spanish family with concomitant β-spectrin (SPTB) c.647G>A variant and pyruvate kinase (PKLR) c. Read More

View Article and Full-Text PDF

Splenic infarction after Epstein-Barr virus infection in a patient with hereditary spherocytosis: a case report and literature review.

BMC Surg 2022 Apr 9;22(1):136. Epub 2022 Apr 9.

Department of Hepatobiliary Surgery, Wenzhou Central Hospital, The Dingli Clinical Institute of Wenzhou Medical University, Wenzhou, 325000, Zhejiang, People's Republic of China.

Background: Hereditary spherocytosis (HS) complicated by splenic infarction is very rare, and it is even rarer to develop splenic infarction after infectious mononucleosis (IM) as a result of Epstein-Barr virus (EBV) infection. Therefore, misdiagnosis or missed diagnosis is prone to occur.

Case Presentation: A 19-year-old Chinese female previously diagnosed with HS was admitted to our institution with persistent high fever and icterus. Read More

View Article and Full-Text PDF

[Genetic Analysis and Prenatal Diagnosis of a Family with Hereditary Spherocytosis Caused by a Novel Compound Heterozygous Mutation of SPTB Gene].

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2022 Apr;30(2):552-558

Department of Clinical Laboratory Examination, The First Affiliated Hospital of Guangxi Medical University, Nanning 530021, Guangxi Zhuang Autonomous Region,

Objective: To investigate the clinical and genetic characteristics of a family with hereditary spherocytosis (HS), to clarify the cause of the disease, and to provide the basis for genetic counseling and prenatal diagnosis.

Methods: The clinical data of proband and his parents were collected, and HS-related pathogenic genovariation of the proband was detected by high throughput sequencing. Suspected pathogenic mutation sites were verified by PCR-Sanger sequencing, and the fetus were conceived by a proband mother underwent prenatal diagnosis. Read More

View Article and Full-Text PDF

Cleavage activation and functional comparison of Manduca sexta serine protease homologs SPH1a, SPH1b, SPH4, and SPH101 in conjunction with SPH2.

Insect Biochem Mol Biol 2022 May 5;144:103762. Epub 2022 Apr 5.

Department of Entomology and Plant Pathology, Oklahoma State University, Stillwater, OK, 74078, USA. Electronic address:

Phenoloxidase (PO) is a crucial component of the insect immune response against microbial infection. In the tobacco hornworm Manduca sexta, PO is generated from its precursor proPO by prophenoloxidase activating proteases (PAPs) in the presence of two noncatalytic serine protease homologs (SPHs). cDNA cloning and genome analysis indicate that SPH1a (formerly known as SPH1), SPH1b, SPH4, SPH101, and SPH2 contain a clip domain, a linker, and a protease-like domain (PLD). Read More

View Article and Full-Text PDF

[Characteristics of bone marrow compensatory erythropoiesis in hereditary spherocytosis].

Zhonghua Xue Ye Xue Za Zhi 2022 Feb;43(2):115-119

State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China.

To reveal the compensatory features of bone marrow (BM) erythropoiesis in hereditary spherocytosis (HS) and to explore the effect of diferent hemoglobin levels on this compensation. Clinical and laboratory data of patients with HS were collected, and the peripheral blood absolute reticulocytes counts value was taken as the surrogate parameter to evaluate the ability of erythropoiesis compensation. BM erythropoiesis compensation in HS with diferent degrees of anemia were evaluated. Read More

View Article and Full-Text PDF
February 2022

Reticulocyte Maturation and Variant Red Blood Cells.

Front Physiol 2022 7;13:834463. Epub 2022 Mar 7.

Bristol Institute for Transfusion Sciences, NHS Blood and Transplant, Bristol, United Kingdom.

The bone marrow produces billions of reticulocytes daily. These reticulocytes mature into red blood cells by reducing their plasma membrane by 20% and ejecting or degrading residual internal organelles, membranes and proteins not required by the mature cell. This process occurs by autophagy, protein degradation and vesiculation but is not well understood. Read More

View Article and Full-Text PDF

Detection of Red Blood Cell Membrane Proteins in Myelodysplastic Syndromes Using Eosin-5-Maleimide (EMA) Staining by Flow Cytometry.

Hematol Rep 2022 Feb 28;14(1):13-18. Epub 2022 Feb 28.

Department of Medicine, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Bangkok 10230, Thailand.

Background: Eosin-5-Maleimide (EMA)-based flow cytometry binds to red blood cell (RBC) membrane-associated proteins which can be used to detect red blood cell (RBC) membrane disorders. Myelodysplastic syndromes (MDS) are stem cell disorders resulting in ineffective hematopoiesis which is commonly present with anemia and erythroid dysplasia.

Objectives: We aimed to study RBC membrane defects in MDS using flow cytometry for EMA staining. Read More

View Article and Full-Text PDF
February 2022

Super-Selective Partial Splenic Embolization for Hereditary Spherocytosis in Children: A Single-Center Retrospective Study.

Front Surg 2022 25;9:835430. Epub 2022 Feb 25.

Chongqing Key Laboratory of Pediatrics, Department of Hepatobiliary Surgery, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.

Background: Hereditary spherocytosis (HS) is the most common hemolytic anemia due to erythrocyte membrane defects. Total splenectomy is the most effective treatment for moderate or severe HS. As a conservative alternative, partial splenic embolization (PSE) can preserve part of the spleen's function, thus reducing the risk of overwhelming post-splenectomy infection (OPSI) or sepsis, especially for pediatric patients. Read More

View Article and Full-Text PDF
February 2022

Changing trends of splenectomy in hereditary spherocytosis: The experience of a reference Centre in the last 40 years.

Br J Haematol 2022 Mar 11. Epub 2022 Mar 11.

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

We describe the clinical/haematological characteristics of 446 patients with hereditary spherocytosis diagnosed in the last 40 years in a reference centre. The frequency of splenectomy decreased over time (44% before 1990 to 7% in 2011-2020), notwithstanding a confirmed good efficacy. Age at splenectomy progressively increased (63% in children before 1990 to 88% in patients aged ≥20 years in 2011-2020). Read More

View Article and Full-Text PDF

Maternal hereditary hemolytic anemia and birth defects in the National Birth Defects Prevention Study.

Birth Defects Res 2022 May 5;114(8):295-303. Epub 2022 Mar 5.

Birth Defects Registry, New York State Department of Health, Albany, New York, USA.

Objectives: Hereditary hemolytic anemia (HHA) results from genetic mutations that cause red blood cell abnormalities. Little research exists on the relationship between HHA and birth defects. Using data from the National Birth Defects Prevention Study (NBDPS), we described characteristics of HHA-exposed women and estimated associations between HHA during pregnancy and specific birth defects. Read More

View Article and Full-Text PDF

Hereditary Spherocytosis With Liver Transplantation After Cirrhosis: A Case Report.

Front Med (Lausanne) 2022 11;9:823724. Epub 2022 Feb 11.

Department of Infectious Diseases, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China.

The clinical manifestations of hereditary spherocytosis are similar to those of various hemolytic anemias, which causes hereditary spherocytosis to be difficult to diagnose clinically. In this case, we obtained the peripheral blood of a patient and family members, and through a whole exome test of the 6,297 genetic phenotypes confirmed by OMIM, we found a heterozygous nonsense mutation (c.4117C>T, P. Read More

View Article and Full-Text PDF
February 2022

Identification of a novel ANK1 mutation in hereditary spherocytosis co-existing with BWS.

Mol Genet Genomic Med 2022 04 25;10(4):e1903. Epub 2022 Feb 25.

Department of Obstetrics, Gansu Province Maternal and Child Health Care Hospital, Lanzhou, China.

Background: Beckwith-Wiedemann syndrome (BWS) is an inherited disorder affecting 1 in 10,500 to 13,700 newborns worldwide. The disease is caused in a vast majority of patients by a molecular defect in the imprinted chromosome 11p15.5. Read More

View Article and Full-Text PDF

Extra-Medullary Hematopoiesis in Sickle Cell Disease Presenting as a Right Adrenal Mass.

Cureus 2022 Jan 17;14(1):e21334. Epub 2022 Jan 17.

Hematology/Oncology, Saint Michael's Medical Center, Newark, USA.

Extramedullary hematopoiesis can occur during normal fetal development or as a compensatory mechanism in chronic anemia when the primary sites of hematopoiesis fail. When it occurs, it is mostly seen in sites such as the liver, spleen, and lymph nodes. Extramedullary hematopoiesis is seen in patients with abnormal morphology of red blood cells like thalassemia and abnormal red blood cell shape like hereditary spherocytosis. Read More

View Article and Full-Text PDF
January 2022

Study on Management of Blood Transfusion Therapy in Patients with Hereditary Spherocytosis.

Appl Bionics Biomech 2022 28;2022:6228965. Epub 2022 Jan 28.

Department of Medical Administration, Nanxishan Hospital of Guangxi Zhuang Autonomous Region, Guilin City 541002, Guangxi Zhuang Autonomous Region, China.

Hereditary spherocytosis (HS) is a chronic hemolytic disorder caused by inherited defects in the red blood cell membrane. This study discusses the treatment strategy for the decline in hemoglobin level in three HS probands with moderately severe or severe hemolysis and summarizes the appropriate laboratory tests that help improve clinical management of blood transfusion in HS patients. Three probands who were diagnosed with HS in our hospital and their family members were included in this study. Read More

View Article and Full-Text PDF
January 2022

A novel SPTB mutation causes hereditary spherocytosis via loss-of-function of β-spectrin.

Ann Hematol 2022 Apr 31;101(4):731-738. Epub 2022 Jan 31.

Central Laboratory, The First Hospital of Lanzhou University, 1 Donggang West Road, Chengguan District, Lanzhou, 730000, Gansu, China.

Hereditary spherocytosis (HS) is the most frequently observed chronic non-immune hemolytic disorder caused by altered red cell membrane function. SPTB gene mutation is one of the most common causes of HS, but pathogenicity analyses and pathogenesis research on these mutations have not been widely conducted. In this study, a novel heterozygous mutation of the SPTB gene (c. Read More

View Article and Full-Text PDF

Influence of diabetes and hypercholesterolemia on laboratory methods for hereditary spherocytosis diagnosis.

J Clin Lab Anal 2022 Mar 26;36(3):e24248. Epub 2022 Jan 26.

Laboratory of Hereditary RBC pathologies, Department of Clinical Chemistry, Laboratoire Hospitalier Universitaire de Bruxelles- Universitair laboratorium Brussel, Université Libre de Bruxelles, Bruxelles, Belgium.

Introduction: Hereditary spherocytosis (HS) is characterized by decreased erythrocyte deformability resulting in hemolytic anemia. This is a heterogeneous disease regarding underlying protein deficiency, disease severity, age at diagnosis and clinical course. Although largely considered as pediatric disease, HS could be initially diagnosed also in elder patients as a result of gallstones or splenomegaly fortuitous finding. Read More

View Article and Full-Text PDF

A Systematic review on diagnostic methods of red cell membrane disorders in Asia.

Int J Lab Hematol 2022 Apr 23;44(2):248-262. Epub 2022 Jan 23.

Department of Medicine, Faculty of Medicine, University of Kelaniya, Kelaniya, Sri Lanka.

Membranopathies are a group of inherited blood disorders where the diagnosis could form a challenge due to phenotype-genotype heterogeneity. In this review, the usage and limitations of diagnostic methods for membranopathies in Asian countries were evaluated. A systematic review was done using articles from PubMed, Google Scholar, and EBSCO from 2000 to 2020. Read More

View Article and Full-Text PDF

Laboratory Indices in Patients with Positive and Borderline Flow Cytometry Eosin-5-Maleimide-Screening Test Results for Hereditary Spherocytosis.

J Pediatr 2022 Apr 14;243:142-145. Epub 2022 Jan 14.

Azrieli Faculty of Medicine, Bar-Ilan University, Safed, Israel; Blood Coagulation Service and Pediatric Hematology Clinic, Galilee Medical Center, Nahariya, Israel.

Objective: To evaluate laboratory indices in patients with hereditary spherocytosis, with positive and borderline flow cytometry eosin-5-melamide (EMA)-bound red blood cells screening test.

Study Design: We compared laboratory indices of 151 samples obtained from 139 different individual patients with negative, borderline, or positive EMA-test results. We also compared the clinical data of the patients in each EMA test results group. Read More

View Article and Full-Text PDF

Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis.

Hum Genome Var 2022 Jan 12;9(1). Epub 2022 Jan 12.

Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan.

Hereditary spherocytosis is the most frequent cause of hereditary hemolytic anemia and is classified into five subtypes (SPH1-5) according to OMIM. Because the clinical and laboratory features of patients with SPH1-5 are variable, it is difficult to classify these patients into the five subtypes based only on these features. We performed target capture sequencing in 51 patients with hemolytic anemia associated with/without morphological abnormalities in red blood cells. Read More

View Article and Full-Text PDF
January 2022

Mitapivat, a novel pyruvate kinase activator, for the treatment of hereditary hemolytic anemias.

Ther Adv Hematol 2021 21;12:20406207211066070. Epub 2021 Dec 21.

Universitair Medisch Centrum Utrecht, Utrecht, The Netherlands.

Mitapivat (AG-348) is a novel, first-in-class oral small molecule allosteric activator of the pyruvate kinase enzyme. Mitapivat has been shown to significantly upregulate both wild-type and numerous mutant forms of erythrocyte pyruvate kinase (PKR), increasing adenosine triphosphate (ATP) production and reducing levels of 2,3-diphosphoglycerate. Given this mechanism, mitapivat has been evaluated in clinical trials in a wide range of hereditary hemolytic anemias, including pyruvate kinase deficiency (PKD), sickle cell disease, and the thalassemias. Read More

View Article and Full-Text PDF
December 2021

Diagnosis and clinical management of red cell membrane disorders.

Hematology Am Soc Hematol Educ Program 2021 12;2021(1):331-340

Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH.

Heterogeneous red blood cell (RBC) membrane disorders and hydration defects often present with the common clinical findings of hemolytic anemia, but they may require substantially different management, based on their pathophysiology. An accurate and timely diagnosis is essential to avoid inappropriate interventions and prevent complications. Advances in genetic testing availability within the last decade, combined with extensive foundational knowledge on RBC membrane structure and function, now facilitate the correct diagnosis in patients with a variety of hereditary hemolytic anemias (HHAs). Read More

View Article and Full-Text PDF
December 2021

Red cell ektacytometry in two patients with chronic hemolytic anemia and three new α-spectrin variants.

Ann Hematol 2022 Mar 29;101(3):549-555. Epub 2021 Nov 29.

Hematology Department, Hospital Universitari de La Santa Creu i Sant Pau, Barcelona, Spain.

Red blood cell (RBC) morphology is, in general, the key diagnostic feature for hereditary spherocytosis (HS) and hereditary elliptocytosis (HE). However, in hereditary pyropoikilocytosis (HPP), the severe clinical form of HE, the morphological diagnosis is difficult due to the presence of a RBC morphological picture characterized by a mixture of elliptocytes, spherocytes, tear-drop cells, and fragmented cells. This difficulty increases in new-borns and/or patients requiring frequent transfusions, making impossible the prediction of the disease course or its severity. Read More

View Article and Full-Text PDF