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Spherocytosis

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https://www.readbyqxmd.com/read/29662857/cryohemolysis-erythrocyte-osmotic-fragility-and-supplementary-hematimetric-indices-in-the-diagnosis-of-hereditary-spherocytosis
#1
Ledesma Achem Miryam Emilse, Haro Cecilia, Terán Magdalena María, Mónaco María Eugenia, Issé Blanca Alicia, Sandra Stella Lazarte
Background: Hereditary spherocytosis (HS) is a chronic hemolytic anemia characterized by microspherocytes in the peripheral blood and increased erythrocyte osmotic fragility (EOF). This study evaluated the cryohemolysis test (CHT); initial hemolysis (IH); immediate and incubated hemolysis percentage in 5.5 g/L NaCl (H5.5); mean corpuscular hemoglobin concentration (MCHC); red blood cell distribution width (RDW); and Hb/MCHC, Hb/RDW, and MCHC/RDW ratios for the diagnosis of HS. Methods: Data from 13 patients with HS were evaluated at the Instituto de Bioquímica Aplicada and compared with data from 14 unaffected individuals and 11 patients with anemia due to another etiology...
March 2018: Blood Research
https://www.readbyqxmd.com/read/29623813/analysis-of-erythrocyte-membrane-proteins-in-patients-with-hereditary-spherocytosis-and-other-types-of-haemolytic-anaemia
#2
Atsushi Shibuya, Hiroaki Kawashima, Masato Tanaka
OBJECTIVES: In order to investigate the pathophysiology of erythrocyte membrane proteins, 10 patients (6 pre- and 4 post-splenectomy) with hereditary spherocytosis (HS) and other patients with haemolytic anaemia were examined. METHODS: The membrane proteins were analysed by biochemical and mass spectrometry. RESULTS: Reductions in the extracellular membrane of band 3 protein by eosin-5'-maleimide (EMA) binding test were greater in patients with pre-splenectomy HS than in patients with post-splenectomy HS, other types of haemolytic anaemia, and controls...
April 6, 2018: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/29605204/pulmonary-hypertension-in-chronic-hemolytic-anemias-pathophysiology-and-treatment
#3
REVIEW
Alexandra Haw, Harold I Palevsky
Pulmonary hypertension has emerged as a major cause of morbidity and mortality in patients with hemoglobinopathies and chronic hemolytic anemias. These hematological diseases include - but are not limited to - sickle cell disease (SCD), thalassemia, paroxysmal nocturnal hematuria, and hereditary spherocytosis. Although most studies have been based on the use of echocardiography as a screening tool for pulmonary hypertension as opposed to the gold standard of right heart catheterization for definitive diagnosis, the association between chronic hemolytic anemia and pulmonary hypertension is evident...
April 2018: Respiratory Medicine
https://www.readbyqxmd.com/read/29597199/diagnosis-of-hereditary-spherocytosis-and-secondary-hemochromatosis-in-a-patient-with-jaundice
#4
Yidan Gao, Binbin Zhang, Yiran Song, Ge Li, Yanting Bao, Yanming Jiang, Ling Gao, Gongying Chen, Jie Wang
No abstract text is available yet for this article.
March 29, 2018: Acta Haematologica
https://www.readbyqxmd.com/read/29594000/nonimmune-hydrops-fetalis-due-to-autosomal-recessive-hereditary-spherocytosis
#5
Dawn M Hannah, Terry B Tressler, Claudia D Taboada
Background: Hereditary spherocytosis is the most common form of inherited hemolytic anemia and is characterized by a structural defect in the RBC membrane. The disorder is commonly inherited in an autosomal dominant fashion and leads to a mild to moderate anemia. The autosomal recessive form of hereditary spherocytosis is rarely reported in association with fetal anemia and hydrops fetalis. Case: A 25 year old G5 P2112 at 25 2/7 weeks gestation presents with severe fetal anemia and nonimmune hydrops fetalis requiring multiple fetal intrauterine transfusions...
October 2017: Case Reports in Women's Health
https://www.readbyqxmd.com/read/29573337/flow-cytometric-osmotic-fragility-test-and-eosin-5-maleimide-dye-binding-tests-are-better-than-conventional-osmotic-fragility-tests-for-the-diagnosis-of-hereditary-spherocytosis
#6
R D Arora, J Dass, S Maydeo, V Arya, N Radhakrishnan, A Sachdeva, J Kotwal, M Bhargava
INTRODUCTION: Hereditary spherocytosis (HS) is the most common inherited hemolytic anemia with heterogeneous clinico-laboratory manifestations. We evaluated the flow-cytometric tests: eosin-5'-maleimide (EMA) and flow-cytometric osmotic fragility test (FOFT) and the conventional osmotic fragility tests (OFT) for the diagnosis of hereditary spherocytosis (HS). METHODS: One hundred two suspected HS patients underwent EMA, FOFT, incubated OFT (IOFT), and room temperature OFT (RT-OFT)...
March 24, 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29572776/exome-sequencing-confirms-molecular-diagnoses-in-38-chinese-families-with-hereditary-spherocytosis
#7
Rongrong Wang, Shuanghao Yang, Ming Xu, Jia Huang, Hongyan Liu, Weiyue Gu, Xue Zhang
Hereditary spherocytosis (HS), the most common cause of congenital hemolytic anemia, is caused by deficiency of the erythrocyte membrane proteins. Five causative genes (ANK1, SPTB, SPTA1, SLC4A1, and EPB42) have been identified. To date, molecular genetic studies have been performed in different populations, including the American, European, Brazilian, Japanese and Korean populations, whereas only a few studies have been described in the Chinese population. Here, by reanalysis of the exome data, we revealed causative mutations and established a definitive diagnosis of HS in all 38 Chinese families...
March 19, 2018: Science China. Life Sciences
https://www.readbyqxmd.com/read/29563373/fatal-cardiac-hemochromatosis-in-a-patient-with-hereditary-spherocytosis
#8
Takeo Fujino, Shujiro Inoue, Shunsuke Katsuki, Taiki Higo, Tomomi Ide, Yoshinao Oda, Hiroyuki Tsutsui
A 31-year-old man was admitted to our hospital with atrial tachycardia and cardiogenic shock. He had been diagnosed with hereditary spherocytosis (HS) during childhood, but he never received any red blood cell transfusions. Right ventricular endomyocardial biopsy revealed multiple myocardial hemosiderin deposits, and he was diagnosed with cardiac hemochromatosis. In addition to the iron deposition in the heart, the loss of myocyte and severe interstitial fibrosis were present. His cardiac function did not improve even after the cardioversion for atrial tachycardia, and he suffered from recurrent heart failure...
March 20, 2018: International Heart Journal
https://www.readbyqxmd.com/read/29554165/blueberry-muffin-rash-secondary-to-hereditary-spherocytosis
#9
Lisa M Daum, Lindsay R Sklar, Darius R Mehregan
The term blueberry muffin rash is used to describe the clinical presentation of dermal extramedullary hematopoiesis. The common culprits of this rash include a TORCH (toxoplasmosis, other agents, rubella, cytomegalovirus, herpes) infection or hematologic dyscrasia. Association of this rash with hereditary spherocytosis is extremely rare. We present a unique case of a neonate born with a blueberry muffin rash secondary to hereditary spherocytosis.
February 2018: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/29513125/a-coincidental-discovery-of-a-new-stable-variant-hb-hachioji-or-hbb-c-187c-t-in-a-patient-with-chronic-hemolytic-anemia-of-unexplained-origin
#10
Ferania Mella, Yasuhiro Yamashiro, Chris Adhiyanto, Tatehiko Tanaka, Takenori Nitta, Yuki Amao, Masafumi Kimoto
We report a new hemoglobin (Hb) variant, Hb Hachioji (HBB: c.187C>T), which was detected in a 32-year-old male with hemolytic anemia. The proband had undergone splenectomy in his childhood after being diagnosed with hereditary spherocytosis (HS) with no clinical improvement. A recent study showed that Heinz bodies were frequently observed in his red cells, however, no abnormal band was separated by isoelectric focusing (IEF), and the isopropanol (instability) test was negative. Direct sequencing revealed that the proband was a heterozygous carrier of a novel mutation (GCT>GTT) at codon 62 of the β-globin gene, leading to an alanine to valine substitution...
March 7, 2018: Hemoglobin
https://www.readbyqxmd.com/read/29508504/a-rhag-point-mutation-selectively-disrupts-rh-antigen-expression
#11
S Mu, Y Cui, W Wang, L Wang, H Xu, O Zhu, D Zhu
OBJECTIVES: The aim of this study was to characterise a novel mutation in the gene encoding RhAG in order to elucidate a molecular mechanism for Rh antigen expression and spherocytosis. BACKGROUND: Rhesus-associated glycoprotein (RhAG) is critical for maintaining the structure and stability of erythrocytes. Single missense mutations in the gene encoding RhAG are sufficient to induce spherocytosis and deficiencies in Rh complex formation. We report a novel missense mutation that incompletely disrupts Rh antigen expression and selectively knocks out RhD antigen expression...
March 6, 2018: Transfusion Medicine
https://www.readbyqxmd.com/read/29506817/results-after-laparoscopic-partial-splenectomy-for-children-with-hereditary-spherocytosis-are-outcomes-influenced-by-genetic-mutation
#12
Jakob Pugi, Manuel Carcao, Luke J Drury, Jacob C Langer
BACKGROUND: Laparoscopic partial splenectomy (LPS) theoretically maintains long-term splenic immune function for children with hereditary spherocytosis (HS). Our goal was to review our results after LPS and to determine if specific genetic mutations influence outcome. METHODS: All children with HS undergoing LPS between 2005 and 2016 were reviewed. RESULTS: Thirty-one children underwent LPS (16 male) at a median age of 9 (range 2-18) years...
February 8, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29505016/targeted-next-generation-sequencing-identifies-a-novel-nonsense-mutation-in-sptb-for-hereditary-spherocytosis-a-case-report-of-a-korean-family
#13
Soyoung Shin, Woori Jang, Myungshin Kim, Yonggoo Kim, Suk Young Park, Joonhong Park, Young Jun Yang
RATIONALE: Hereditary spherocytosis (HS) is an inherited disorder characterized by the presence of spherical-shaped red blood cells (RBCs) on the peripheral blood (PB) smear. To date, a number of mutations in 5 genes have been identified and the mutations in SPTB gene account for about 20% patients. PATIENT CONCERNS: A 65-year-old female had been diagnosed as hemolytic anemia 30 years ago, based on a history of persistent anemia and hyperbilirubinemia for several years...
January 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29492255/an-intrapancreatic-accessory-spleen-presenting-as-a-rapidly-growing-pancreatic-mass-after-splenectomy-in-a-patient-with-hereditary-spherocytosis-a-case-report-and-literature-review
#14
Yukihiro Tatekawa
The case of a 16-year-old boy with an intrapancreatic accessory spleen presenting as a rapidly growing pancreatic mass after splenectomy for splenomegaly due to hereditary spherocytosis is reported herein. When he was 15 years old, the patient visited at a hospital due to jaundice and radiological examinations showed a huge spleen with a 2-cm mass near or in the pancreatic tail. Sonazoid-enhanced ultrasonography showed hypervascularity in the mass located near the pancreatic tail, which was suspicious for an accessory spleen...
February 2018: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/29481990/20-years-experience-with-laparoscopic-splenectomy-single-center-outcomes-of-a-cohort-study-of-500-cases
#15
Dorota Radkowiak, Anna Zychowicz, Anna Lasek, Michał Wysocki, Piotr Major, Michał Pędziwiatr, Piotr Budzyński, Jan Kulawik, Andrzej Budzyński
BACKGROUND: Laparoscopic splenectomy (LS) has become the gold standard in elective spleen surgery. Although it is considered relatively safe, treatment results vary depending on a hospital's profile and the experience of the surgeon and center. We would like to present experience of a high-volume referral center with minimally invasive operations of the spleen. MATERIAL AND METHODS: The retrospective cohort study included consecutive patients undergoing laparoscopic splenectomy in tertiary referral surgical center in 1998-2017...
February 23, 2018: International Journal of Surgery
https://www.readbyqxmd.com/read/29474985/optimal-reference-gene-selection-for-expression-studies-in-human-reticulocytes
#16
Anu Aggarwal, Manu Jamwal, Ganesh Kumar V, Prashant Sharma, Man Updesh Singh Sachdeva, Deepak Bansal, Pankaj Malhotra, Reena Das
Reference genes are indispensable for normalizing mRNA levels across samples in real-time quantitative PCR. Their expression levels vary under different experimental conditions and due to several inherent characteristics. Appropriate reference gene selection is thus critical for gene-expression studies. This study aimed at selecting optimal reference genes for gene-expression analysis of reticulocytes and validating them in hereditary spherocytosis (HS) and β-thalassemia intermedia (βTI) patients. Seven reference genes (PGK1, MPP1, HPRT1, ACTB, GAPDH, RN18S1, and SDHA) were selected from published literature...
February 20, 2018: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/29449435/novel-hereditary-spherocytosis-associated-splice-site-mutation-in-the-ank1-gene-caused-by-parental-gonosomal-mosaicism
#17
Xiong Wang, Na Shen, Ming Huang, Yanjun Lu, Qun Hu
No abstract text is available yet for this article.
February 15, 2018: Haematologica
https://www.readbyqxmd.com/read/29434716/%C3%AE-thalassaemia-combined-with-hereditary-spherocytosis-in-the-same-patient
#18
Xiaohong Li, Lin Liao, Xuelian Deng, Jian Huang, Zengfu Deng, Hongying Wei, Wuning Mo, Faquan Lin
A family of four from the Guangxi Zhuang Autonomous Region of China, including a child with α-thalassaemia and hereditary spherocytosis (HS), underwent laboratory identification, and genetic analysis. After harvesting peripheral blood samples from the child patient and his family members, GAP-polymerase chain reaction (PCR) and reverse dot-blot tests were used to identify thalassaemia genotypes. After amplifying exons and the adjacent introns of solute carrier family 4 member 1 (Diego blood group) (SLC4A1), ankyrin 1, spectrin α erythrocytic 1, spectrin β erythrocytic and erythrocyte membrane protein band 4...
February 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29415937/-portal-vein-thrombosis-associated-with-idiopathic-hypereosinophilic-syndrome
#19
Satoshi Kaito, Sakiko Harada, Masao Tsukada, Akira Kojima, Kanichi Iwama, Kazunari Yamada, Kouichi Kajiwara, Kentaro Morikawa, Keiki Shimizu, Yasuji Kozai, Hideki Koudo
A 35-year-old man who previously underwent splenectomy for hereditary spherocytosis at age 29 visited our hospital complaining of fatigue that had started 7 days ago and right upper abdominal pain. Laboratory data showed increased white blood cell and eosinophil count accompanied by severe transaminitis and clotting abnormalities. Computed tomography scan showed multiple embolisms in the portal vein, superior mesenteric vein, right pulmonary artery, and inferior vena cava. Severe liver damage presumably caused by portal vein thrombosis was also observed...
2018: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/29402830/molecular-genetic-mechanisms-of-hereditary-spherocytosis-current-perspectives
#20
Ben-Jin He, Lin Liao, Zeng-Fu Deng, Yi-Feng Tao, Yu-Chan Xu, Fa-Quan Lin
With the widespread use of genetic diagnostic technologies, many novel mutations have been identified in hereditary spherocytosis (HS)-related genes, including SPTA1, SPTB, ANK1, SLC4A1, and EPB42. However, mutations in HS-related genes are dispersed and nonspecific in the diagnosis of some HS patients, indicating significant heterogeneity in the molecular deficiency of HS. It is necessary to provide the molecular and genetic characteristics of these 5 genes for clinicians to examine HS. Here, we reviewed the recent proposed molecular genetic mechanisms of HS...
2018: Acta Haematologica
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