2,677 results match your criteria Spherocytosis Hereditary


A de novo ANK1 mutation associated to hereditary spherocytosis: a case report.

BMC Pediatr 2019 Feb 18;19(1):62. Epub 2019 Feb 18.

Department of Hematology, Kunming Children's Hospital, Kunming, China.

Background: Hereditary spherocytosis (HS) is a type of hemolytic anemia caused by abnormal red cell membrane skeletal proteins with few unique clinical manifestations in the neonate and infant. An ANK1 gene mutation is the most common cause of HS.

Case Presentation: The patient was a 11-month-old boy who suffered from anemia and needed a regular transfusion therapy at an interval of 2-3 months. Read More

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http://dx.doi.org/10.1186/s12887-019-1436-4DOI Listing
February 2019

Feasibility and Safety of Laparoscopic Partial Splenectomy: A Systematic Review.

World J Surg 2019 Feb 14. Epub 2019 Feb 14.

Department of the Second General Surgery, Sheng Jing Hospital of China Medical University, No. 36, Sanhao Street, Heping District, Shenyang City, Liaoning Province, China.

Background: Laparoscopic partial splenectomy (LPS) is a challenging procedure. The aim of this review was to evaluate its feasibility, safety, and potential benefits.

Methods: We conducted a comprehensive review for the years 1995-2018 to retrieve all relevant articles. Read More

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http://dx.doi.org/10.1007/s00268-019-04946-8DOI Listing
February 2019

The hemostasis system in children with hereditary spherocytosis.

Thromb Res 2019 Feb 5;176:11-17. Epub 2019 Feb 5.

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia; Pirogov Russian National Research Medical University, Moscow, Russia.

Introduction: Patients with hereditary spherocytosis (HS) are characterized by having an increased risk for thrombosis. An early manifestation of thrombotic complications can occur even in childhood, especially after surgery. Hypercoagulability can be associated with hemolytic crises. Read More

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http://dx.doi.org/10.1016/j.thromres.2019.02.004DOI Listing
February 2019

Whole exome sequencing identified a novel mutation (p.Ala1884Pro) of β-spectrin in a Chinese family with hereditary spherocytosis.

J Gene Med 2019 Jan 28:e3073. Epub 2019 Jan 28.

Department of Cell Biology, The School of Life Sciences, Central South University, Changsha, China.

Background: Hereditary spherocytosis (HS) is an inherited disorder of erythrocyte. The typical feature of HS is the presence of spherical-shaped erythrocytes on the peripheral blood smear. According to previous studies, more than five candidate genes, such as ANK1, SPTB, SPTA1, SLC4A1 and EPB42 have been identified in HS patients. Read More

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http://dx.doi.org/10.1002/jgm.3073DOI Listing
January 2019
2 Reads

[Clinical and genetic features of children with hereditary spherocytosis: an analysis of 4 cases].

Zhongguo Dang Dai Er Ke Za Zhi 2019 Jan;21(1):29-32

Department of Pediatrics, Hanchuan People's Hospital, Hanchuan, Hubei 431600, China.

Four children (two boys and two girls), aged from 3 years and 7 months to 5 years, had mild or moderate anemia, mild hepatosplenomegaly, jaundice (mainly an increase in indirect bilirubin), an increase in the percentages of reticulocytes and spherical erythrocytes in peripheral blood smear and an increase in erythrocyte osmotic brittleness. High-throughput sequencing found two novel mutations in the SLC4A1 gene, c.37G>A and c. Read More

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January 2019
1 Read

Laparoscopic splenectomy for hereditary spherocytosis. A case series and review of the literature.

Ann Ital Chir 2018 ;89:569-571

Hereditary spherocytosis (HS) is a common inherited hemolytic anemia caused by a defective erythrocyte cellular membrane. Irrespective of type of surgery performed, several case reports comparing the two type of procedures, have not proven any significant difference between serum bilirubin, serum hemoglobin, red blood cells' and platelets' count, in the followup period at 6 and 12 months respectively, even if platelet count has maintained high for the first 6 months postoperatively, justifying an oral antiplatelet therapy for this time interval. In the present work, we present the use of LS as the treatment of choice for HS as a case series, with all the characteristics. Read More

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January 2018
2 Reads

Surgical management of hereditary spherocytosis Current strategies.

Ann Ital Chir 2018 ;89:473-478

Background: Hereditary spherocytosis is a benign hematologic disease, which needs surgical treatment when medical therapy fails. Currently, the surgical strategies consist mainly in total or partial splenectomy, which can be performed either in open or in laparoscopic fashion. In this study, we analyzed our series of splenectomies for hereditary spherocytosis and we discuss about the surgical management, reviewing the Literature. Read More

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January 2018
16 Reads

Status of Membrane Asymmetry in Erythrocytes: Role of Spectrin.

Adv Exp Med Biol 2018 ;1112:3-11

Crystallography & Molecular Biology Division, Saha Institute of Nuclear Physics, HBNI, Kolkata, India.

Spectrin-based proteinaceous membrane skeletal network has been found to be implicated in membrane disorders like hereditary spherocytosis (HS). HS greatly affects eryptosis via loss of membrane asymmetry which is seen to be the case in haemoglobin disorders like thalassemia and sickle cell disease as well. The biological implications of the status of membrane asymmetry are strongly correlated to spectrin interactions with aminophospholipids, e. Read More

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http://dx.doi.org/10.1007/978-981-13-3065-0_1DOI Listing
January 2018
3 Reads

Correction to: Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis.

Clin Genet 2019 Feb;95(2):341

Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.

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http://doi.wiley.com/10.1111/cge.13476
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http://dx.doi.org/10.1111/cge.13476DOI Listing
February 2019
7 Reads

Ankyrin Mutations in Hereditary Spherocytosis.

Acta Haematol 2019 Jan 2;141(2):63-64. Epub 2019 Jan 2.

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http://dx.doi.org/10.1159/000495339DOI Listing
January 2019

Transglutaminase diseases: from biochemistry to the bedside.

FASEB J 2019 Jan;33(1):3-12

Molecular Cardiology and Biophysics Division, Victor Chang Cardiac Research Institute, Darlinghurst, New South Wales, Australia.

In humans, 9 members of the transglutaminase (TG) family have been identified, of which 8 [factor XIII (FXIII)A and TG1-TG7] catalyze post-translational protein-modifying reactions, and 1 does not (protein 4.2). The TG enzymatic activities considered in our discussion of human disease include deamidation of glutamine (Gln) residues, amine incorporation into Gln residues, and protein crosslinking. Read More

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http://dx.doi.org/10.1096/fj.201801544RDOI Listing
January 2019
1 Read

Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead.

Authors:
Toru Watanabe

Pediatric Health Med Ther 2018 12;9:181-190. Epub 2018 Dec 12.

Department of Pediatrics, Niigata City General Hospital, Niigata City 950-1197, Japan,

Primary distal renal tubular acidosis (dRTA) is a rare genetic disorder caused by impaired distal acidification due to a failure of type A intercalated cells (A-ICs) in the collecting tubule. dRTA is characterized by persistent hyperchloremia, a normal plasma anion gap, and the inability to maximally lower urinary pH in the presence of systemic metabolic acidosis. Common clinical features of dRTA include vomiting, failure to thrive, polyuria, hypercalciuria, hypocitraturia, nephrocalcinosis, nephrolithiasis, growth delay, and rickets. Read More

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https://www.dovepress.com/improving-outcomes-for-patients-wi
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http://dx.doi.org/10.2147/PHMT.S174459DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6296208PMC
December 2018
6 Reads

Glycosylated haemoglobin: a false sense of security.

BMJ Case Rep 2018 Dec 7;11(1). Epub 2018 Dec 7.

Department of Haematology, Doncaster and Bassetlaw Teaching Hospitals NHS Foundation Trust, Doncaster, UK.

We report the unusual case of a patient found to have a low glycosylated haemoglobin (HbA1c) despite having recently been diagnosed with diabetes mellitus type 2. The patient, who was not anaemic, with no symptoms or family history of haematological conditions, was subsequently found to have an elevated reticulocyte count, inferring increased red cell turnover as the culprit for the discordant HbA1c result. A diagnosis of hereditary spherocytosis was made based on characteristic peripheral blood film appearances and confirmed by eosin-5-maleimide binding test. Read More

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http://dx.doi.org/10.1136/bcr-2018-227668DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6301642PMC
December 2018
1 Read

Spectrum and hematological profile of hereditary anemia in North Indians: SGPGI experience.

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

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http://dx.doi.org/10.5582/irdr.2018.01093DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6290850PMC
November 2018
2 Reads

Eosin-5'-maleimide binding test-Do we use appropriate reference values to detect hereditary spherocytosis in neonates?

Int J Lab Hematol 2018 Dec 10. Epub 2018 Dec 10.

Department of Laboratory Diagnostics and Clinical Immunology of Developmental Age, Medical University of Warsaw, Warsaw, Poland.

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http://dx.doi.org/10.1111/ijlh.12958DOI Listing
December 2018
4 Reads

Inherited hemolytic anemia: a possessive beginner's guide.

Authors:
Narla Mohandas

Hematology Am Soc Hematol Educ Program 2018 11;2018(1):377-381

New York Blood Center, New York, NY.

Significant advances have been made in diagnosis and clinical management of inherited red cell membrane disorders that result in hemolytic anemia. Membrane structural defects lead to hereditary spherocytosis (HS) and hereditary elliptocytosis (HE), whereas altered membrane transport function accounts for hereditary xerocytosis (HX) and hereditary overhydrated stomatocytosis (OHS). The degrees of membrane loss and resultant increases in cell sphericity determine the severity of anemia in HS and HE, and splenectomy leads to amelioration of anemia by increasing the circulatory red cell life span. Read More

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http://dx.doi.org/10.1182/asheducation-2018.1.377DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6245988PMC
November 2018
2 Reads

Nano- and microscale mechanical properties of erythrocytes in hereditary spherocytosis.

J Biomech 2019 Jan 16;83:1-8. Epub 2018 Nov 16.

Research Institute for Applied Problems of Mathematics and Informatics, Belarusian State University, Nezavisimosti Ave., 4, 220030 Minsk, Belarus.

Hereditary spherocytosis (HS), an erythrocyte membranopathy, is a heterogeneous disease, even at the level of the erythrocyte population. The paper aims at studying the mechanical properties (the Young's modulus, median and RMS roughness of friction force maps; fractal dimension, lacunarity and spatial distribution parameters of lateral force maps) of the cell surface layer of the erythrocytes of two different morphologies (discocytes and spherocytes) in HS using atomic force microscopy. The results of spatial-spectral and fractal analysis showed that the mechanical property maps of the HS spherocyte surface were more structurally homogeneous compared to the maps of HS discocytes. Read More

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http://dx.doi.org/10.1016/j.jbiomech.2018.11.017DOI Listing
January 2019
1 Read

[Application of High Resolution Melting Curve Analysis in Detection of SLC4A1 Gene Mutation in Patients with Hereditary Spherocytosis].

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2018 Dec;26(6):1826-1830

Department of Laboratorial Medicine, The First Affiliated Hospital of Guangxi Medical University Nanning 530021, Guangxi Zhuang Autonomous Region, China,E-mail:

Objective: To investigate the feasibility and clinical significance of high resolution melting(HRM) curve analysis to detect SLC4A1 gene D38A and K56E mutations in the patients with hereditary spherocytosis(HS).

Methods: Peripheral blood was collected from 23 cases of HS for routine tests and their genomic DNA was extracted by routine technique. Specific primers of mutation sites D38A and K56E of SLC4A1 gene were designed. Read More

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http://dx.doi.org/10.7534/j.issn.1009-2137.2018.06.041DOI Listing
December 2018
2 Reads

Hereditary spherocytosis: Retrospective evaluation of 65 children.

Turk J Pediatr 2018 ;60(3):264-269

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

Güngör A, Yaralı N, Fettah A, Ok-Bozkaya İ, Özbek N, Kara A. Hereditary spherocytosis: Retrospective evaluation of 65 children. Turk J Pediatr 2018; 60: 264-269. Read More

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http://dx.doi.org/10.24953/turkjped.2018.03.005DOI Listing
January 2018
12 Reads

[Clinical manifestations of erythrocyte membrane protein coding gene mutations in hereditary spherocytosis].

Zhonghua Xue Ye Xue Za Zhi 2018 Nov;39(11):912-916

Institute of Hematology and Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China.

To investigate the relationship between the erythrocyte membrane protein gene mutations and the clinical severity of hereditary spherocytosis (HS). Targeted sequencings were performed on 25 HS patients, correlation between HS mutations and patients' clinical characteristics were evaluated. A total of 25 HS patients were enrolled, including 13 males and 12 females with median age of 20 (4-55) years, including 9 compensatory hemolysis patients, 9 patients with mild anemia, 3 patients with moderate anemia and 4 patients with severe anemia. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0253-2727.2018.11.008DOI Listing
November 2018
12 Reads

[The characteristic of hereditary spherocytosis related gene mutation in 37 Chinese hereditary spherocytisis patients].

Zhonghua Xue Ye Xue Za Zhi 2018 Nov;39(11):898-903

Institute of Hematology and Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China.

To reveal the genetic characteristics of erythrocyte membrane protein in hereditary spherocytosis (HS) in China. Next-generation sequencing technology was used to detect mutations in genes of erythrocyte membrane proteins in 51 clinically diagnosed HS patients. The relationship between gene mutations and clinical phenotypes was analyzed. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0253-2727.2018.11.005DOI Listing
November 2018

The fluid membrane determines mechanics of erythrocyte extracellular vesicles and is softened in hereditary spherocytosis.

Nat Commun 2018 11 23;9(1):4960. Epub 2018 Nov 23.

Department of Physics and Astronomy and LaserLab, Vrije Universiteit Amsterdam, 1081 HV, Amsterdam, The Netherlands.

Extracellular vesicles (EVs) are widely studied regarding their role in cell-to-cell communication and disease, as well as for applications as biomarkers or drug delivery vehicles. EVs contain membrane and intraluminal proteins, affecting their structure and thereby likely their functioning. Here, we use atomic force microscopy for mechanical characterization of erythrocyte, or red blood cell (RBC), EVs from healthy individuals and from patients with hereditary spherocytosis (HS) due to ankyrin deficiency. Read More

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http://dx.doi.org/10.1038/s41467-018-07445-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251882PMC
November 2018
25 Reads

Efficient method for isolation of reticulocyte RNA from healthy individuals and hemolytic anaemia patients.

J Cell Mol Med 2019 Jan 18;23(1):487-496. Epub 2018 Nov 18.

Department of Biochemistry and Bioinformatics, Faculty of Biological Sciences, University of Zielona Góra, Zielona Góra, Poland.

Despite enormous progress and development of high-throughput methods in genome-wide mRNA analyses, data on the erythroid transcriptome are still limited, even though they could be useful in medical diagnostics and personalized therapy as well as in research on normal and pathological erythroid maturation. Although obtaining normal and pathological reticulocyte transcriptome profiles should contribute greatly to our understanding of the molecular bases of terminal erythroid differentiation as well as the mechanisms of the hematological diseases, a basic limitation of these studies is the difficulty of efficient reticulocyte RNA isolation from human peripheral blood. The restricted number of possible parallel experiments primarily concern healthy individuals with the lowest number of reticulocytes in the peripheral blood and a low RNA content. Read More

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http://doi.wiley.com/10.1111/jcmm.13951
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http://dx.doi.org/10.1111/jcmm.13951DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307756PMC
January 2019
11 Reads

Hereditary spherocytosis presenting with branch retinal artery occlusion.

Authors:
Shinji Makino

QJM 2018 Nov 12. Epub 2018 Nov 12.

Jichi Medical University, Ophthalmology.

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http://dx.doi.org/10.1093/qjmed/hcy261DOI Listing
November 2018
2 Reads

Response to Makino: 'Hereditary spherocytosis presenting with branch retinal artery occlusion'.

QJM 2018 Nov 3. Epub 2018 Nov 3.

Department of Endocrinology, Metabolism and Nephrology, Kochi Medical School, Kochi University, Kohasu, Oko-cho, Nankoku, Kochi, Japan.

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http://dx.doi.org/10.1093/qjmed/hcy258DOI Listing
November 2018
1 Read

Flow Cytometric Analysis of Erythrocytes Osmotic Fragility in Hereditary Spherocytosis: A Case-Controlled Study Evaluating the Best Anticoagulant, Sample Pre-Treatment and NaCl Concentration for Reliable Screening of this Red Blood Cell Membrane Disorder.

Cytometry B Clin Cytom 2018 Nov 16;94(6):910-917. Epub 2018 Oct 16.

Sabin Laboratory, Brasília, Federal District, Brazil.

Background: The cytometric flow osmotic fragility test (FC-OFT) was recently introduced. However, the test is still under development and some variables have not yet been fully tested.

Methods: The osmotic fragility of hereditary spherocytosis (HS) cases and healthy controls were evaluated by FC-OFT using a series of tubes containing decreasing concentrations of NaCl. Read More

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http://doi.wiley.com/10.1002/cyto.b.21733
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http://dx.doi.org/10.1002/cyto.b.21733DOI Listing
November 2018
13 Reads

Learning-based screening of hematologic disorders using quantitative phase imaging of individual red blood cells.

Biosens Bioelectron 2019 Jan 21;123:69-76. Epub 2018 Sep 21.

Department of Physics, Korea Advanced Institute of Science and Technology (KAIST), Daejeon 34141, Republic of Korea; KAIST Institute for Health Science and Technology, KAIST, Daejeon 34141, Republic of Korea; Tomocube, Inc., Daejeon 34051, Republic of Korea. Electronic address:

We present a rapid and label-free method for hematologic screening for diseases and syndromes, utilizing quantitative phase imaging (QPI) and machine learning. We aim to establish an efficient blood examination framework that does not suffer from the drawbacks of conventional blood assays, which are incapable of profiling single cells or require labeling procedures. Our method involves the synergistic employment of QPI and machine learning. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09565663183076
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http://dx.doi.org/10.1016/j.bios.2018.09.068DOI Listing
January 2019
10 Reads

Whole-exome sequencing for the genetic diagnosis of congenital red blood cell membrane disorders in Taiwan.

Clin Chim Acta 2018 Dec 11;487:311-317. Epub 2018 Oct 11.

Department of Laboratory Medicine, China Medical University Hospital, China Medical University, Taichung, Taiwan; Epigenome Research Center, China Medical University Hospital, Taichung, Taiwan; School of Medicine, China Medical University, Taichung, Taiwan; Department of Bioinformatics and Medical Engineering, Asia University, Taichung, Taiwan; Center for Precision Medicine, China Medical University Hospital, Taichung, Taiwan. Electronic address:

Purpose: Congenital hemolytic anemia caused by red blood cell (RBC) membrane defects is a heterogeneous group of disorders. The present study aimed to search the causative gene mutations in patients with RBC membrane disorders in Taiwan.

Materials And Methods: Next-generation sequencing approach using whole-exome sequencing (WES) was performed. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00098981183054
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http://dx.doi.org/10.1016/j.cca.2018.10.020DOI Listing
December 2018
3 Reads

Old and new insights into the diagnosis of hereditary spherocytosis.

Authors:
Olga Ciepiela

Ann Transl Med 2018 Sep;6(17):339

Department of Laboratory Diagnostics, Medical University of Warsaw, Warsaw, Poland.

Hereditary spherocytosis (HS) belongs to the group of congenital hemolytic anemias resulting from plasma membrane protein deficiency. When diagnosed too late, HS bares the risk of long-term complications including gall stones and severe anemia. Here, there are discussed advances in HS screening and diagnostics, with a particular focus on methodologies, most of which are available in clinical laboratories worldwide. Read More

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http://dx.doi.org/10.21037/atm.2018.07.35DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174190PMC
September 2018
4 Reads

Extramedullary hematopoiesis of the sphenoid sinus associated with hereditary spherocytosis: A case report.

Int J Pediatr Otorhinolaryngol 2018 Nov 10;114:1-4. Epub 2018 Aug 10.

Department of Otolaryngology, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH, 43205, USA. Electronic address:

Extramedullary hematopoiesis is a rare cause of a sinonasal mass that presents unique diagnostic and treatment challenges. While there are numerous reports of patients with hereditary spherocytosis developing extramedullary hematopoiesis in the posterior mediastinum, involvement in the paranasal sinuses has not previously been described. Here, we present the first case of a patient with hereditary spherocytosis developing extramedullary hematopoiesis in the sphenoid sinus. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01655876183039
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http://dx.doi.org/10.1016/j.ijporl.2018.08.012DOI Listing
November 2018
6 Reads

Severe nondominant hereditary spherocytosis in an infant with coinheritance of three rare alpha-spectrin gene defects.

Pediatr Blood Cancer 2019 Jan 25;66(1):e27480. Epub 2018 Sep 25.

Department of Pediatrics, Division of Pediatric Hematology Oncology, Rush University Medical Center, Chicago, Illinois.

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http://dx.doi.org/10.1002/pbc.27480DOI Listing
January 2019
2 Reads

Hereditary spherocytosis presenting with branch retinal artery occlusion.

QJM 2018 Dec;111(12):899-900

Department of Endocrinology, Metabolism and Nephrology, Kochi Medical School, Kochi University, Oko-cho, Nankoku, Kochi, Japan.

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http://dx.doi.org/10.1093/qjmed/hcy211DOI Listing
December 2018
1 Read

Spectrum of Ankyrin Mutations in Hereditary Spherocytosis: A Case Report and Review of the Literature.

Acta Haematol 2018 18;140(2):77-86. Epub 2018 Sep 18.

Department of Pediatrics, Third Xiangya Hospital of Central South University, Changsha, China.

Background/aims: Hereditary spherocytosis (HS) is a common pediatric hemolytic anemia caused by congenital red blood cell defects. HS due to ankyrin 1 (ANK1) mutations is the most common type. We explored an ANK1 mutation from an HS patient and reviewed the literature. Read More

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http://dx.doi.org/10.1159/000492024DOI Listing
September 2018
2 Reads

How I do in front of an hemolytic anemia of unknown etiology?

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

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http://dx.doi.org/10.1684/abc.2018.1381DOI Listing
October 2018
12 Reads

Laparoscopic splenectomy for hereditary spherocytosis. A case series and review of the literature.

Ann Ital Chir 2018 Jul 11;7. Epub 2018 Jul 11.

Hereditary spherocytosis (HS) is a common inherited hemolytic anemia caused by a defective erythrocyte cellular membrane. Irrespective of type of surgery performed, several case reports comparing the two type of procedures, have not proven any significant difference between serum bilirubin, serum hemoglobin, red blood cells' and platelets' count, in the followup period at 6 and 12 months respectively, even if platelet count has maintained high for the first 6 months postoperatively, justifying an oral antiplatelet therapy for this time interval. In the present work, we present the use of LS as the treatment of choice for HS as a case series, with all the characteristics. Read More

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July 2018
18 Reads
0.683 Impact Factor

Tokyo-1 Mutation: Hereditary Spherocytosis in a Hispanic Newborn Presenting as Early Onset Severe Hyperbilirubinemia.

Fetal Pediatr Pathol 2018 Aug 12;37(4):296-300. Epub 2018 Sep 12.

a Department of Pediatrics , Icahn School of Medicine at Mount Sinai, Elmhurst Hospital Center , Elmhurst , New York , USA.

Background: Hereditary spherocytosis in the Hispanic population does not often present with severe hyperbilirubinemia. Spectrin and band 3 mutations are most frequent in this population.

Case Report: We present a Hispanic full-term female newborn with early onset significant hyperbilirubinemia without a history of familial hemolytic disorders. Read More

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http://dx.doi.org/10.1080/15513815.2018.1485797DOI Listing
August 2018
3 Reads

How I treat hypoxia in adults with hemoglobinopathies and hemolytic disorders.

Blood 2018 Oct 11;132(17):1770-1780. Epub 2018 Sep 11.

Division of Pulmonary, Critical Care, Sleep, and Occupational Medicine, Department of Medicine, Indiana University, Indianapolis, IN.

Hemoglobinopathies are caused by genetic mutations that result in abnormal hemoglobin molecules, resulting in hemolytic anemia. Chronic complications involving the lung parenchyma, vasculature, and cardiac function in hemoglobinopathies result in impaired gas exchange, resulting in tissue hypoxia. Hypoxia is defined as the deficiency in the amount of oxygen reaching the tissues of the body and is prevalent in patients with hemoglobinopathies, and its cause is often multifactorial. Read More

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http://www.bloodjournal.org/lookup/doi/10.1182/blood-2018-03
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http://dx.doi.org/10.1182/blood-2018-03-818195DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6202915PMC
October 2018
7 Reads

Surgical resection of extramedullary haematopoiesis in the posterior mediastinum.

Respirol Case Rep 2018 Oct 6;6(7):e00358. Epub 2018 Sep 6.

Department of Surgery Kurume University Fukuoka Japan.

Extramedullary haematopoiesis is a rare disease that is usually associated with haematologic disorders such as thalassemia, myelodysplastic syndrome, and hereditary spherocytosis. It frequently occurs in the liver, spleen, and lymph nodes. Rarely, it occurs in the posterior mediastinum. Read More

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http://dx.doi.org/10.1002/rcr2.358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6127221PMC
October 2018
2 Reads

Mechanics of diseased red blood cells in human spleen and consequences for hereditary blood disorders.

Proc Natl Acad Sci U S A 2018 09 6;115(38):9574-9579. Epub 2018 Sep 6.

Nanyang Technological University, 639798, Singapore

In red blood cell (RBC) diseases, the spleen contributes to anemia by clearing the damaged RBCs, but its unique ability to mechanically challenge RBCs also poses the risk of inducing other pathogenic effects. We have analyzed RBCs in hereditary spherocytosis (HS) and hereditary elliptocytosis (HE), two typical examples of blood disorders that result in membrane protein defects in RBCs. We use a two-component protein-scale RBC model to simulate the traversal of the interendothelial slit (IES) in the human spleen, a stringent biomechanical challenge on healthy and diseased RBCs that cannot be directly observed in vivo. Read More

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http://www.pnas.org/lookup/doi/10.1073/pnas.1806501115
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http://dx.doi.org/10.1073/pnas.1806501115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6156670PMC
September 2018
16 Reads

Screening of hereditary spherocytosis and pyruvate kinase deficiency by automated blood count using erythrocytic and reticulocytic parameters.

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

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http://doi.wiley.com/10.1111/ijlh.12906
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http://dx.doi.org/10.1111/ijlh.12906DOI Listing
December 2018
12 Reads

Organ involvement occurs in all forms of hereditary haemolytic anaemia.

Br J Haematol 2018 Sep 5. Epub 2018 Sep 5.

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

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http://dx.doi.org/10.1111/bjh.15575DOI Listing
September 2018
3 Reads

A Case of Glaucoma in Hereditary Spherocytosis.

J Glaucoma 2018 Dec;27(12):e187-e190

Department of Surgery, The University of Melbourne.

Purpose: To report a case of glaucoma and the inherited red cell membranopathy hereditary spherocytosis diagnosed simultaneously in 2 individuals in a family.

Patient: A 66-year-old man with normal pressure glaucoma and hereditary spherocytosis.

Results: This patient presented with a branch retinal vein occlusion, and normal tension glaucoma that was incidentally detected. Read More

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http://dx.doi.org/10.1097/IJG.0000000000001075DOI Listing
December 2018
9 Reads

Challenges and Results of Laparoscopic Splenectomy for Hematological Diseases in a Developing Country.

Minim Invasive Surg 2018 1;2018:4256570. Epub 2018 Aug 1.

Clinical Hematology and Bone Marrow Transplant Unit, Department of Medicine, Civil Service Hospital of Nepal, Kathmandu, Nepal.

Introduction: Though, in developed countries, laparoscopy is now a gold standard for splenectomy, we are lacking in this aspect in the eastern world. Splenectomy has mostly been performed by open surgery in our region. This is our effort to introduce laparoscopic splenectomy in our country. Read More

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http://dx.doi.org/10.1155/2018/4256570DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6093075PMC
August 2018
4 Reads

Flow Cytometric Eosin-5'-Maleimide Test is a Sensitive Screen for Hereditary Spherocytosis.

Indian J Hematol Blood Transfus 2018 Jul 6;34(3):491-494. Epub 2017 Dec 6.

Anand Diagnostic Laboratory, 54, Bowring Tower, Bowring Hospital Road, Shivajinagar, Bengaluru, Karnataka 560001 India.

Hereditary spherocytosis (HS) is a clinically heterogeneous disease characterized by mild to moderate hemolysis resulting from red cell membrane protein defects. Diagnostic tests include hemogram, reticulocyte count and blood smear evaluation, osmotic fragility, cryohemolysis, SDS-PAGE, flow cytometry using eosin-5'-maleimide (EMA) and genetic studies. We evaluated the flow cytometric EMA-binding test and compared it with osmotic fragility in 51 consecutive cases of suspected HS aged between 10 days and 62 years. Read More

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http://dx.doi.org/10.1007/s12288-017-0907-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081319PMC
July 2018
1 Read

Synergistic Integration of Laboratory and Numerical Approaches in Studies of the Biomechanics of Diseased Red Blood Cells.

Biosensors (Basel) 2018 Aug 10;8(3). Epub 2018 Aug 10.

Division of Applied Mathematics, Brown University, Providence, RI 02912, USA.

In red blood cell (RBC) disorders, such as sickle cell disease, hereditary spherocytosis, and diabetes, alterations to the size and shape of RBCs due to either mutations of RBC proteins or changes to the extracellular environment, lead to compromised cell deformability, impaired cell stability, and increased propensity to aggregate. Numerous laboratory approaches have been implemented to elucidate the pathogenesis of RBC disorders. Concurrently, computational RBC models have been developed to simulate the dynamics of RBCs under physiological and pathological conditions. Read More

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http://dx.doi.org/10.3390/bios8030076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6164935PMC
August 2018
7 Reads

[Rare diseases recognizable from blood smears].

Internist (Berl) 2018 Oct;59(10):1106-1113

Klinik für Hämatologie, Onkologie und Immunologie, Universitätsklinikum Gießen und Marburg, Standort Marburg, Philipps-Universität Marburg, Baldingerstr., 35043, Marburg, Deutschland.

The examination of peripheral blood smears is not only essential for the differential diagnostics of hematological diseases but can also provide important indications for general internal diseases, infections, hereditary diseases and poisoning. By the systematic analysis of a blood smear for alterations to thrombocytes, erythrocytes and leukocytes, a blood smear investigation can make a decisive contribution to the formulation of a diagnosis. In this way evidence of rare diseases can also be gained when taking the corresponding clinical findings into consideration. Read More

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http://dx.doi.org/10.1007/s00108-018-0467-5DOI Listing
October 2018
2 Reads

Moyamoya disease associated with hereditary spherocytosis.

Neurol India 2018 Jul-Aug;66(4):1174-1175

Comprehensive Stroke Care Program, Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.

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http://dx.doi.org/10.4103/0028-3886.237016DOI Listing
July 2018
2 Reads

Assessment of the red blood cell proteome in a dog with unexplained hemolytic anemia.

Vet Clin Pathol 2018 Sep 19;47(3):377-385. Epub 2018 Jul 19.

School of Cellular and Molecular Medicine, University of Bristol, Bristol, UK.

A 7-year-old female neutered Jack Russell Terrier was presented to Langford Vets, the University of Bristol, with a history of chronic intermittent lethargy. Investigations and clinical course were compatible with hereditary hemolysis due to a red blood cell membrane defect. Proteomics was used to explore protein alterations in the presence of a hypothesized red blood cell membrane protein deficiency. Read More

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http://dx.doi.org/10.1111/vcp.12627DOI Listing
September 2018
29 Reads

Analysis of the causes of the misdiagnosis of hereditary spherocytosis.

Oncol Rep 2018 Sep 13;40(3):1451-1458. Epub 2018 Jul 13.

Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi 530021, Zhuang Autonomous Region, P.R. China.

Hereditary spherocytosis (HS) is an inherited hemolytic disease with clinical diversities. The aim of the present study was to examine the reasons for prolonged misdiagnosis and mistherapy of HS in a Chinese patient, and to summarize the laboratory screening and treatment methods for this disease in increasing the knowledge towards HS. Clinical data of the proband was reviewed. Read More

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http://www.spandidos-publications.com/10.3892/or.2018.6578
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http://dx.doi.org/10.3892/or.2018.6578DOI Listing
September 2018
14 Reads