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Spherocytosis

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https://www.readbyqxmd.com/read/28764172/clinico-haematological-profile-of-hereditary-haemolytic-anaemias-in-a-tertiary-health-care-hospital-in-south-india
#1
Chaitra Venkataswamy, Am Shanthala Devi
INTRODUCTION: Hereditary haemolytic anaemia is a common inherited disorder causing varying degree of morbidity and mortality. This includes disorders due to haemoglobin defect, membrane defect, and enzyme defect. Among them haemoglobinopathies, a single gene disorder, constitutes the major part of the disorder and is distributed worldwide with an incidence of 5%. These inherited disorders pose a major public health problem and increase the burden both on the patient and the society. Presently, these disorders are not curable but can only be prevented...
June 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28751503/ankyrin-1-gene-exhibits-allelic-heterogeneity-in-conferring-protection-against-malaria
#2
Hong Ming Huang, Denis C Bauer, Patrick M Lelliott, Matthew Wa Dixon, Leann Tilley, Brendan J McMorran, Simon J Foote, Gaetan Burgio
Allelic heterogeneity is a common phenomenon where a gene exhibit different phenotype depending on the nature of its genetic mutations. In the context of genes affecting malaria susceptibility, it allowed us to explore and understand the intricate host-parasite interactions during malaria infections. In this study, we described a gene encoding erythrocytic ankyrin-1 (Ank-1) which exhibits allelic-dependent heterogeneous phenotypes during malaria infections. We conducted an ENU mutagenesis screen on mice and identified two Ank-1 mutations, one resulted in an amino acid substitution (MRI95845), and the other a truncated Ank-1 protein (MRI96570)...
July 27, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28700505/sepsis-due-to-streptococcus-pneumoniae-associated-with-secondary-hemophagocytic-lymphohistiocytosis-in-a-splenectomized-patient-for-spherocytosis-a-case-report
#3
Victoria Birlutiu, Rares Mircea Birlutiu
RATIONALE: Hemophagocytic lymphohistiocytosis (HLH) is a syndrome that is characterized by an inappropriate hyperinflammatory immune response - primary, as a consequence of a genetic defect of NK cells and cytotoxic T lymphocytes or - secondary, in the progression of infections, rheumatic or autoimmune diseases, malignancies or metabolic diseases. PATIENT CONCERNS: We present the case of a secondary HLH due to Streptococcus pneumoniae infection in a splenectomised patient for spherocytosis, a 37-year-old patient who was splenectomised in childhood for spherocytosis, without immuneprophylaxis induced by antipneumococcal vaccine...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28694211/novel-mutations-in-patients-with-hereditary-red-blood-cell-membrane-disorders-using-next-generation-sequencing
#4
Yunyan He, Siyuan Jia, Roma Kajal Dewan, Ning Liao
To diagnose and investigate the genotype-phenotype relationship in intractable hereditary red blood cell (RBC) membrane cases, we have utilized next-generation sequencing (NGS) to develop a high-throughput, highly sensitive assay. Three unrelated families including 15 individuals were analysed with a panel interrogating 600 genes related to haematopathy disorders. Where possible, inheritance patterns of pathogenic mutations were determined by sequencing the relatives. We identified 2 novel mutations in ANK1 (Y216X and E142X) responsible for hereditary spherocytosis (HS) that were stop-gain single nucleotide variants (SNVs)...
July 7, 2017: Gene
https://www.readbyqxmd.com/read/28655100/-correlation-of-the-degree-of-band-3-protein-absence-on-erythrocyte-membrane-by-eosin-5-maleimide-binding-test-and-clinical-phenotype-in-hereditary-spherocytosis
#5
G X Peng, W R Yang, L P Jing, L Zhang, K Zhou, Y Li, L Ye, Y Li, J P Li, H H Fan, L Song, X Zhao, Z J Wu, Y Yang, Y Z Xiong, H J Wang, F K Zhang
Objective: To investigate the relationship between the eosin-5'-maleimide (EMA) binding test and the clinical severity of hereditary spherocytosis (HS). Methods: A total of 258 un-splenectomize HS patients were consecutively enrolled. Correlation of hemoglobin concentration, hemolytic parameters, compensating erythropoiesis and the EMA binding test were evaluated. Results: 258 (128 male and 130 female) patients were included in this study, including 91 compensatory hemolysis patients, 53 patients with mild anemia, 78 patients with moderate anemia and 36 patients with severe anemia...
June 14, 2017: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/28612582/management-in-rare-association-of-moyamoya-syndrome-and-hereditary-spherocytosis
#6
Samira Yadegari, Ali Aminian
No abstract text is available yet for this article.
August 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28599278/identification-of-a-novel-de-novo-ank1-r1426-nonsense-mutation-in-a-chinese-family-with-hereditary-spherocytosis-by-ngs
#7
Xiong Wang, Bin Yi, Ketao Mu, Na Shen, Yaowu Zhu, Qun Hu, Yanjun Lu
Hereditary spherocytosis (HS) is an inherited heterogeneous hemolytic anemia, characterized by the presence of spherical-shaped erythrocytes on the peripheral blood smear, and the clinical manifestation ranges from asymptomatic to severely anemic, and transfusion-dependent patients. Mutations in at least five genes (ANK1, EPB42, SLC4A1, SPTA1, and SPTB) have been identified so far, and mutations of ANK1 gene are responsible for the majority of all HS cases. In this study, targeted next generation sequencing (NGS) was applied to identify a novel de novo ANK1 c...
May 27, 2017: Oncotarget
https://www.readbyqxmd.com/read/28598970/seroprevalence-and-clinical-characteristics-of-viral-hepatitis-in-transfusion-dependent-thalassemia-and-hemophilia-patients
#8
Tyng-Yuan Jang, Pei-Chin Lin, Ching-I Huang, Yu-Mei Liao, Ming-Lun Yeh, Yu-Sheng Zeng, Po-Cheng Liang, Wan-Yi Hsu, Shih-Pien Tsai, Zu-Yau Lin, Shinn-Cherng Chen, Jee-Fu Huang, Chia-Yen Dai, Chung-Feng Huang, Shyh-Shin Chiou, Wan-Long Chuang, Ming-Lung Yu
BACKGROUND/AIMS: Transfusion dependent subjects are at a great risk of viral hepatitis infection. We aimed to evaluate the prevalence and factors associated with hepatitis B virus (HBV) and hepatitis C virus (HCV) infection among transfusion-dependent patients in Taiwan. METHODS: A total of 140 patients (67 thalassemic patients, 70 hemophilic patients, two patients with hereditary spherocytosis and one patient with von Willebrand disease) were prospectively enrolled to evaluate the prevalence and factors associated with viral hepatitis and spontaneous HCV clearance...
2017: PloS One
https://www.readbyqxmd.com/read/28596658/usefulness-of-reticulocyte-parameters-for-diagnosis-of-hereditary-spherocytosis-in-children
#9
Olga Ciepiela, Anna Adamowicz-Salach, Andżelika Radgowska, Katarzyna Żbikowska, Iwona Kotuła
Innovations in laboratory equipment have enabled a widening of the spectrum of hematological parameters obtained from single measurements of peripheral blood samples, including reticulocyte parameters. The usefulness of reticulocytes indices to confirm the diagnosis of pediatric anemia was analyzed in this study. The study group consisted of 163 children, aged 1 month-17 years, with anemia. Complete blood count extended with an analysis of reticulocyte parameters were measured using a Beckman Coulter LH 750...
June 2017: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/28596226/autoimmune-hemolytic-anemia-associated-with-trimethoprim-sulfamethoxazole-use
#10
Jillian Frieder, Jason Aboudi Mouabbi, Rami Zein, Tariq Hadid
PURPOSE: A case report of drug-induced immune hemolytic anemia (DIIHA) triggered by exposure to trimethoprim-sulfamethoxazole is presented along with a brief review of the pathophysiology of DIIHA and diagnostic considerations. SUMMARY: A 58-year-old woman recently initiated on trimethoprim-sulfamethoxazole for treatment of a urinary tract infection presented to the emergency department with generalized weakness and fatigue. Initial laboratory studies were significant for the following values: hemoglobin concentration, 5...
June 15, 2017: American Journal of Health-system Pharmacy: AJHP
https://www.readbyqxmd.com/read/28550239/clinical-conditions-responsible-for-hyperviscosity-and-skin-ulcers-complications
#11
Gregorio Caimi, Baldassare Canino, Rosalia Lo Presti, Caterina Urso, Eugenia Hopps
In this brief review, we have examined some clinical conditions that result to be associated to an altered hemorheological profile and at times accompanied by skin ulcers. This skin condition may be observed in patients with the following condtions, such as primary polycythemic hyperviscosity (polycythemia, thrombocytemia) treated with hydroxyurea, primary plasma hyperviscosity (multiple myeloma, cryoglobulinemia, cryofibrinogenemia, dysfibrinogenemia, and connective tissue diseases), primary sclerocythemic hyperviscosity (hereditary spherocytosis, thalassemia, and sickle cell disease)...
May 19, 2017: Clinical Hemorheology and Microcirculation
https://www.readbyqxmd.com/read/28550188/recommendations-regarding-splenectomy-in-hereditary-hemolytic-anemias
#12
Achille Iolascon, Immacolata Andolfo, Wilma Barcellini, Francesco Corcione, Loïc Garçon, Lucia De Franceschi, Claudio Pignata, Giovanna Graziadei, Dagmar Pospisilova, David C Rees, Mariane de Montalembert, Stefano Rivella, Antonella Gambale, Roberta Russo, Leticia Ribeiro, Jules Vives-Corrons, Patricia Aguilar Martinez, Antonis Kattamis, Beatrice Gulbis, Maria Domenica Cappellini, Irene Roberts, Hannah Tamary
Hereditary hemolytic anemias are a group of disorders with a variety of causes, including red cell membrane defects, red blood cell enzyme disorders, congenital dyserythropoietic anemias, thalassemia syndromes and hemoglobinopathies. As damaged red blood cells passing through the red pulp of the spleen are removed by splenic macrophages, splenectomy is one possible therapeutic approach to the management of severely affected patients. However, except for hereditary spherocytosis for which the effectiveness of splenectomy has been well documented, the efficacy of splenectomy in other anemias within this group has yet to be determined and there are concerns regarding short- and long-term infectious and thrombotic complications...
August 2017: Haematologica
https://www.readbyqxmd.com/read/28542050/low-spo2-with-normal-sao2-during-general-anesthesia-a-case-report
#13
Stefan Brugger, Maria-Dolores Santafé-Marti, Malika Lakhal
A 25-year-old Caucasian man with a history of spherocytosis, splenectomy, recurrent blood transfusion, and no cardiopulmonary disease presented for an emergent laparoscopic cholecystectomy with a baseline pulse oximetric saturation (SpO2) of 88% while breathing room air. The SpO2 increased to only 89% during preoxygenation with an FIO2 1.0. Multiple arterial blood samples revealed SaO2 as high as 100% with PaO2 averaging 390 mm Hg. He was subsequently diagnosed with a dyshemoglobin, hemoglobin Köln. The simultaneous presentation of a stable patient from a cardiopulmonary perspective with normal arterial oxygen tension and saturation in the blood gas analyses despite a low SpO2 measurement outlines the importance of integrating the history of present illness and both the importance and the limitation of the pulse oximetry...
May 23, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28482413/-hereditary-spherocytosis-complicated-by-hereditary-hemochromatosis-a-case-report
#14
H B Ning, E E Guo, J P Liu, E H Xiao, J Shang
No abstract text is available yet for this article.
March 20, 2017: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
https://www.readbyqxmd.com/read/28480998/evaluation-of-osmocells-a-new-semi-automatic-device-for-osmotic-fragility-assessment
#15
D Gérard, A-J Fattet, C Brakta, A Phulpin, D Steschenko, J-F Lesesve, J Perrin
INTRODUCTION: The osmotic fragility (OF) test was a central test for the diagnosis of hereditary red blood cell (RBC) disorders (mostly hereditary spherocytosis (HS), but thalassaemia as well). Nowadays although the traditional multitubes method has lost a prominent place, many laboratories still perform such a laboured test, despite the lack of standardization. In fact, the evaluation of OF may offer an inexpensive screening for RBC disorders. We present a new semi-automatic device, allowing the continuous recording of OF, by an updated dialysis method...
May 8, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28466540/usefulness-of-the-ema-flow-cytometric-test-in-the-diagnosis-of-hereditary-spherocytosis-post-transfusion
#16
Estelle Cheli, Jocelyn Roze, Thomas Garrot, Sarah Tagarist, Claire Briandet, François Girodon
No abstract text is available yet for this article.
May 3, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28463670/hereditary-spherocytosis-diagnosis-surgical-treatment-and-outcomes-a-literature-review
#17
REVIEW
Simona Manciu, Emil Matei, Bogdan Trandafir
Hereditary spherocytosis (HS) is a disease affecting the red blood cells membrane and belongs to the congenital hemolytic anemias. The clinical spectrum ranges from asymptomatic patients to severe forms requiring transfusions in early childhood. The diagnosis can be based on the physical examination, complete red blood cell count, reticulocytes count, medical history and specific tests, preferentially the EMA test (eosin-5-maleimide binding) test and AGLT (Acidified Glycerol Lysis Time). Splenectomy is considered the standard surgical treatment in moderate and severe forms of hereditary spherocytosis...
March 2017: Chirurgia
https://www.readbyqxmd.com/read/28447420/red-cell-membrane-disorders
#18
REVIEW
J Narla, N Mohandas
Significant advances have been made in our understanding of the structural basis for altered cell function in various inherited red cell membrane disorders with reduced red cell survival and resulting hemolytic anemia. The current review summarizes these advances as they relate to defining the molecular and structural basis for disorders involving altered membrane structural organization (hereditary spherocytosis [HS] and hereditary elliptocytosis [HE]) and altered membrane transport function (hereditary overhydrated stomatocytosis and hereditary xerocytosis)...
May 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28417547/a-long-term-follow-up-study-of-subtotal-splenectomy-in-children-with-hereditary-spherocytosis
#19
C W K Rosman, P M A Broens, M Trzpis, R Y J Tamminga
BACKGROUND: Hereditary spherocytosis (HS) is a heterogeneous hemolytic anemia treated with splenectomy in patients suffering from severe or moderate disease. Total splenectomy, however, renders patients vulnerable to overwhelming postsplenectomy infection despite preventive measures. Although subtotal splenectomy has been advocated as an alternative to total splenectomy, long-term follow-up data are scarce. We investigated how often hematologic recurrences requiring secondary total splenectomy occurred...
April 18, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28368266/growth-failure-in-hereditary-spherocytosis-and-the-effect-of-splenectomy
#20
Anirban Das, Deepak Bansal, Amita Trehan, Reena Das
OBJECTIVE: To analyze growth-failureand improvement, if any, following splenectomy in children with hereditary spherocytosis. METHODS: Data collection from case-records (n=82) over 27-years(1985-2011). RESULTS: Prevalence of stunting was 26%; 32% were underweight. Stunted children were older in age (P=0.006) and presented late (P=0.003). Splenectomy (n=26) improved anemia (P<0.001). However, height-for-age did not improve at 1-year, or 4...
March 29, 2017: Indian Pediatrics
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