2,689 results match your criteria Spherocytosis Hereditary


Mild Hereditary Spherocytosis without Accompanying Hereditary Haemochromatosis: An Unrecognised Cause of Iron Overload.

Acta Haematol 2019 Apr 9;141(4):256-260. Epub 2019 Apr 9.

Department of Paediatrics, Division of Haematology/Oncology, Hospital for Sick Children, Toronto, Ontario, Canada,

Hereditary spherocytosis (HS) is a common inherited haemolytic anaemia and has great variability in its presentation. Non-transfusion iron overload in HS has only been reported with co-inheritance of hereditary haemochromatosis (HHC). We present 4 unrelated patients of East Asian ethnicity with mild HS and significant non-transfusion iron overload in the absence of known disease-causing mutations in HHC genes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000497175DOI Listing
April 2019
1 Read
0.994 Impact Factor

Blood cell parameters for screening and diagnosis of hereditary spherocytosis.

J Clin Lab Anal 2019 Apr 3:e22844. Epub 2019 Apr 3.

Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Nanning, China.

Background: There is currently no single index for the diagnostic screening of hereditary spherocytosis (HS). However, hematology analyzers are widely used in hospital laboratories because of their highly automated performance and quality control procedure, and detection of some blood cell parameters may be useful for the early screening of HS.

Methods: We investigated the values of blood cell parameters for the screening and differential diagnosis of HS. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jcla.22844DOI Listing
April 2019
3 Reads

Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells.

Front Physiol 2019 15;10:258. Epub 2019 Mar 15.

Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy.

PIEZO1 is a cation channel activated by mechanical force. It plays an important physiological role in several biological processes such as cardiovascular, renal, endothelial and hematopoietic systems. Two different diseases are associated with alteration in the DNA sequence of : (i) dehydrated hereditary stomatocytosis (DHS1, #194380), an autosomal dominant hemolytic anemia caused by gain-of-function mutations; (ii) lymphatic dysplasia with non-immune fetal hydrops (LMPH3, #616843), an autosomal recessive condition caused by biallelic loss-of-function mutations. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fphys.2019.00258DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6428731PMC
March 2019
5 Reads

Elevated tricuspid regurgitation velocity in congenital hemolytic anemias: Prevalence and laboratory correlates.

Pediatr Blood Cancer 2019 Mar 25:e27717. Epub 2019 Mar 25.

Department of Hematology, St. Jude Children's Research Hospital, Memphis, Tennessee.

Elevated tricuspid valve regurgitation jet velocity (TRV ≥ 2.5 m/s) is associated with mortality among adults with sickle cell disease (SCD), but correlative biomarkers are not studied according to treatment exposure or genotypes. To investigate the associations between biomarkers and TRV elevation, we examined the relationship between TRV and hemolytic, inflammatory, and cardiac biomarkers, stratified by disease-modifying treatments and SCD genotype. Read More

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1002/pbc.27717
Publisher Site
http://dx.doi.org/10.1002/pbc.27717DOI Listing
March 2019
3 Reads

Hereditary spherocytosis caused by copy number variation in SPTB gene identified through targeted next-generation sequencing.

Int J Hematol 2019 Mar 21. Epub 2019 Mar 21.

Department of Laboratory Medicine, College of Medicine, Seoul St. Mary's Hospital, The Catholic University of Korea, Seoul, Republic of Korea.

Hereditary spherocytosis (HS) is a heterogeneous genetic disorder characterized by spherocytosis on peripheral blood smear with hemolytic anemia, accompanied by signs of hemolysis. Herein, we report a 5-month-old Korean girl with HS resulting from a de novo 271 Kb microdeletion of 14q23.3. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12185-019-02630-0DOI Listing
March 2019
3 Reads
1.679 Impact Factor

Gallbladder Disease in Children: A 20-year Single-centre Experience.

Indian Pediatr 2019 Mar 19. Epub 2019 Mar 19.

Department of Pediatric Surgery, University Hospital of Split, Spinciceva; and University of Split, School of Medicine, Soltanska; Split, Croatia.

Objective: Aim of this study was to examine the changes in incidence of pediatric cholecystectomies.

Methods: Children were divided into two groups regarding year of surgery (Group I: 1998-2007; Group II: 2008-2017) and their characteristics were compared.

Results: Number of cholecystecomies increased from 11 to 34. Read More

View Article

Download full-text PDF

Source
March 2019
1 Read

Identification of red blood cell membrane defects in a patient with hereditary spherocytosis using next‑generation sequencing technology and matrix‑assisted laser desorption/ionization time‑of‑flight mass spectrometry.

Mol Med Rep 2019 May 14;19(5):3912-3922. Epub 2019 Mar 14.

Department of Biophysics, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey.

Hereditary spherocytosis (HS) is characterized by the morphological transformation of erythrocytes into a spherical shape due to a hereditary defect in cell membrane proteins (ghosts) associated with disruption of erythrocyte skeletal structures. Contrary to the literature, pores were detected in the erythrocytes of a patient with HS. The aim of the present study was to determine the affected proteins and genes that were responsible for the pores. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3892/mmr.2019.10036DOI Listing

[A case report of SPTB new mutation in hereditary spherocytosis and literature review].

Zhonghua Xue Ye Xue Za Zhi 2019 Feb;40(2):155

Department of Hematology, Xinjiang Autonomous Region People's Hospital, Urumchi 830001.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3760/cma.j.issn.0253-2727.2019.02.013DOI Listing
February 2019

Novel compound heterozygous mutations in the SPTA1 gene, causing hereditary spherocytosis in a neonate with Coombs‑negative hemolytic jaundice.

Mol Med Rep 2019 Apr 8;19(4):2801-2807. Epub 2019 Feb 8.

Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, P.R. China.

Hereditary spherocytosis (HS) is a common heterogeneous type of inherited hemolytic anemia characterized by jaundice and splenomegaly. Diagnosis of HS in neonates is considered unreliable, and is generally based on positive family history, spherocytes in peripheral smears, increased osmotic fragility, and jaundice. In the present study, routine laboratory tests, next‑generation sequencing, and Sanger sequencing were applied to diagnose a neonatal patient with Coombs‑negative hemolytic jaundice. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3892/mmr.2019.9947DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6423610PMC
April 2019
1 Read

A woman with recurrent anaemia and jaundice.

BMJ 2019 Feb 27;364:k5168. Epub 2019 Feb 27.

Department of Medicine, Launceston General Hospital, Launceston, Tasmania, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bmj.k5168DOI Listing
February 2019
1 Read

Hereditary Spherocytosis Presenting as Diffuse Bone Marrow Activation and Splenomegaly on PSMA-Targeted 18F-DCFPyL PET/CT.

Clin Nucl Med 2019 Apr;44(4):e313-e314

The James Buchanan Brady Urological Institute and Department of Urology, Johns Hopkins University School of Medicine, Baltimore, MD.

We present the case of a 71-year-old man with Gleason 3 + 3 = 6 pT2N0MxR0 adenocarcinoma of the prostate who presented with rising PSA level 16 years after radical prostatectomy. PSMA-targeted F-DCFPyL PET/CT was performed, which demonstrated recurrent disease in the prostatectomy bed as well as splenomegaly and mild-diffuse bone marrow activation, consistent with the patient's history of hereditary spherocytosis. We briefly review the clinical characteristics of hereditary spherocytosis, its appearance on molecular imaging studies, the normal biodistribution of F-DCFPyL, and the PSMA-RADS scoring system for characterizing findings on PSMA-targeted PET imaging. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/RLU.0000000000002489DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399051PMC
April 2019
4 Reads

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12887-019-1436-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6379977PMC
February 2019
1 Read

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

View Article

Download full-text PDF

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

The hemostasis system in children with hereditary spherocytosis.

Thromb Res 2019 Apr 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.thromres.2019.02.004DOI Listing
April 2019
2 Reads

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

J Gene Med 2019 Feb 11;21(2-3):e3073. Epub 2019 Feb 11.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jgm.3073DOI Listing
February 2019
4 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

View Article

Download full-text PDF

Source
January 2019
2 Reads

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

View Article

Download full-text PDF

Source
January 2018
3 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

View Article

Download full-text PDF

Source
January 2018
29 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/978-981-13-3065-0_1DOI Listing
January 2018
4 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.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/cge.13476
Publisher Site
http://dx.doi.org/10.1111/cge.13476DOI Listing
February 2019
12 Reads

Ankyrin Mutations in Hereditary Spherocytosis.

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

University of Utah Health, Department of Pathology/ARUP Laboratories, Salt Lake City, Utah, USA,

View Article

Download full-text PDF

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

Transglutaminase diseases: from biochemistry to the bedside.

FASEB J 2019 01;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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1096/fj.201801544RDOI Listing
January 2019
4 Reads

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

View Article

Download full-text PDF

Source
https://www.dovepress.com/improving-outcomes-for-patients-wi
Publisher Site
http://dx.doi.org/10.2147/PHMT.S174459DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6296208PMC
December 2018
16 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

View Article

Download full-text PDF

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

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5582/irdr.2018.01093DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6290850PMC
November 2018
3 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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ijlh.12958DOI Listing
December 2018
5 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1182/asheducation-2018.1.377DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6245988PMC
November 2018
4 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jbiomech.2018.11.017DOI Listing
January 2019
2 Reads

[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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7534/j.issn.1009-2137.2018.06.041DOI Listing
December 2018
3 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.24953/turkjped.2018.03.005DOI Listing
February 2019
18 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3760/cma.j.issn.0253-2727.2018.11.008DOI Listing
November 2018
15 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

View Article

Download full-text PDF

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

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41467-018-07445-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251882PMC
November 2018
44 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

View Article

Download full-text PDF

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

Hereditary spherocytosis presenting with branch retinal artery occlusion.

Authors:
S Makino

QJM 2019 Mar;112(3):237

Department of Ophthalmology, Jichi Medical University, Shimotsuke, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/qjmed/hcy261DOI Listing
March 2019
3 Reads

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

QJM 2019 Mar;112(3):239-240

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/qjmed/hcy258DOI Listing
March 2019
2 Reads

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

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/cyto.b.21733
Publisher Site
http://dx.doi.org/10.1002/cyto.b.21733DOI Listing
November 2018
16 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

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S09565663183076
Publisher Site
http://dx.doi.org/10.1016/j.bios.2018.09.068DOI Listing
January 2019
13 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

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00098981183054
Publisher Site
http://dx.doi.org/10.1016/j.cca.2018.10.020DOI Listing
December 2018
7 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.21037/atm.2018.07.35DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174190PMC
September 2018
5 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

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S01655876183039
Publisher Site
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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pbc.27480DOI Listing
January 2019
3 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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/qjmed/hcy211DOI Listing
December 2018
2 Reads

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000492024DOI Listing
September 2018
4 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1684/abc.2018.1381DOI Listing
October 2018
14 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

View Article

Download full-text PDF

Source
July 2018
24 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/15513815.2018.1485797DOI Listing
August 2018
5 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

View Article

Download full-text PDF

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