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https://www.readbyqxmd.com/read/28641501/hematological-characterizations-and-molecular-diagnostic-aspects-of-hb-wiangpapao-%C3%AE-44-ce2-pro%C3%A2-ser-%C3%AE-1-ccg-tcg-hba1-c-133c-t-a-new-%C3%AE-globin-variant-found-in-a-pregnant-thai-woman
#1
Sitthichai Panyasai, Sakorn Pornprasert
We report the hematological parameters and provide a rapid molecular analysis method for detection of Hb Wiangpapao [α44(CE2)Pro→Ser, CCG>TCG; HBA1: c.133C>T], a new α-globin variant found in a pregnant Thai woman. Her red cell indices were measured by an automated blood counter. The results were: red blood cell (RBC) count 4.03 × 10(12)/L, Hb 13.1 (g/dL), packed cell volume (PCV) 0.39 L/L, mean corpuscular volume (MCV) 97.0 fL, mean corpuscular hemoglobin (Hb) (MCH) 32.5 pg, mean corpuscular Hb concentration (MCHC) 33...
June 23, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28615064/anti-toxoplasma-gondii-antibodies-in-patients-with-beta-hemoglobinopathies-the-first-report-in-the-americas
#2
Marina Neves Ferreira, Claudia Regina Bonini-Domingos, Isabeth Fonseca Estevão, Clarice Lopes de Castro Lobo, Gisele Cristina Souza Carrocini, Aparecida Perpétuo Silveira-Carvalho, Octávio Ricci, Luiz Carlos de Mattos, Cinara Cássia Brandão de Mattos
BACKGROUND: In Brazil, there have been no previous studies of Toxoplasma gondii infection in sickle cell anemia patients and carriers of severe forms of beta-thalassemia. This study evaluated T. gondii infection in patients with beta-hemoglobinopathies. METHODS: A total of 158 samples, 77 (48.7%) men and 81 (51.3%) women, were evaluated. Three groups were formed: G1 (85 patients with sickle cell disease); G2 (11 patients with homozygous beta-thalassemia; G3 (62 patients with heterozygous beta-thalassemia)...
June 14, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28605432/molecular-diagnosis-of-thalassemias-and-hemoglobinopathies-an-aclps-critical-review
#3
Daniel E Sabath
Objectives: To describe the use of molecular diagnostic techniques for patients with hemoglobin disorders. Methods: A clinical scenario is presented in which molecular diagnosis is important for genetic counseling. Globin disorders, techniques for their diagnosis, and the role of molecular genetic testing in managing patients with these disorders are described in detail. Results: Hemoglobin disorders, including thalassemias and hemoglobinopathies, are among the commonest genetic diseases, and the clinical laboratory is essential for the diagnosis of patients with these abnormalities...
June 12, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28602890/posterior-reversible-encephalopathy-syndrome-after-hematopoietic-cell-transplantation-in-children-with-hemoglobinopathies
#4
Javid Gaziev, Simone Marziali, Katia Paciaroni, Antonella Isgrò, Francesca Di Giuliano, Giorgia Rossi, Marco Marziali, Gioia De Angelis, Cecilia Alfieri, Michela Ribersani, Marco Andreani, Maria Giuseppina Palmieri, Fabio Placidi, Andrea Romigi, Francesca Izzi, Roberto Floris, Nicola Biagio Mercuri
Posterior reversible encephalopathy syndrome (PRES) is a serious adverse event associated with calcineurin inhibitors (CI) used for graft-versus-host disease (GVHD) prophylaxis. We compared the incidence of PRES in children with thalassemia (n=222, 1.4-17.8 years old) versus sickle cell disease (SCD; n=59, 2-17 years old) who underwent hematopoietic cell transplantation (HCT) from HLA-matched siblings or alternative donors and analyzed the risk factors for PRES. Overall, 31 children developed CI-related PRES (11%), including 30 patients with seizures and 1 patient without seizures...
June 5, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28596657/increased-level-of-factor-viii-and-physiological-inhibitors-of-coagulation-in-patients-with-sickle-cell-disease
#5
Mohamed Chekkal, Mohamed Chakib Arslane Rahal, Khedidja Moulasserdoun, Fatima Seghier
Sickle cell disease (SCD) is a hemoglobinopathy characterized by hemolysis, oxidative stress, and vaso-occlusive crises. Thromboembolism also remains a serious complication and probably underestimated in the SCD. Our objective was to seek the existence of hemostasis abnormalities that predispose to thrombosis such as elevation of FVIII and Physiological inhibitors of coagulation deficiency. We studied 81 patients with SCD, including 32 homozygous S/S, 20 double heterozygous S/β thalassemia and 29 heterozygous S/A...
June 2017: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/28588857/hemoglobin-titusville-a-rare-low-oxygen-affinity-hemoglobinopathy
#6
Senan John Yasar, Vivian Irene Ravn Berg, Asim Ahmad, Donald Doll
The relevance of this case lies in the extensive diagnostic workup that can be avoided with proper laboratory evaluation of relatively unsophisticated tests.
June 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28543614/capillarys-2-flex-piercing-analytical-performance-assessment-according-to-clsi-protocols-for-hba1c-quantification
#7
Radhouene Doggui, Chaïma Abdelhafidh Sahli, Wassef Lotfi Aissa, Maroua Hammami, Maha Ben Sedrine, Rahma Mahjoub, Khemais Zouaoui, Rim Daboubi, Hajer Siala, Taieb Messaoud, Amina Bibi
HbA1c is used for monitoring diabetic balance. In this paper we report an assessment of the analytical performances of Capillarys 2 Flex Piercing (C2FP) for HbA1c measurement using CE (Capillary Electrophoresis). CLSI (Clinical and Laboratory Standard Institute) protocols are used for the evaluation of apparatus performances: precision, linearity, method comparison, truness and common interferences. HbA1c CVs average in intra-assay was 1.6% between run imprecision CV ranged from0.1 to 1.8%. The linearity was demonstrated between 4...
May 19, 2017: Electrophoresis
https://www.readbyqxmd.com/read/28520780/towards-a-point-of-care-strip-test-to-diagnose-sickle-cell-anemia
#8
Meaghan Bond, Brady Hunt, Bailey Flynn, Petri Huhtinen, Russell Ware, Rebecca Richards-Kortum
A rapid test to identify patients with sickle cell disease could have important benefits in low-resource settings. Sickle cell anemia (SCA) affects about 300,000 newborns each year, the majority of whom are born in sub-Saharan Africa. Low-cost therapies are available to treat SCA, but most countries in sub-Saharan Africa lack robust neonatal screening programs needed to identify patients in need of treatment. To address this need, we developed and evaluated a competitive lateral flow assay that identifies patients with SCA (genotype HbSS) in 15 minutes using undiluted whole blood...
2017: PloS One
https://www.readbyqxmd.com/read/28507438/pulmonary-hypertension-in-nigerian-adults-with-sickle-cell-anemia
#9
Valentine N Amadi, Michael O Balogun, Norah O Akinola, Rasaaq A Adebayo, Anthony O Akintomide
BACKGROUND: Sickle cell anemia (SCA) is the commonest hemoglobinopathy and is associated with high morbidity and mortality. Pulmonary hypertension (PH) is reported to play a significant role in this regard. There is very limited literature on PH in SCA in Nigeria. OBJECTIVES: The objectives of this study were to determine the prevalence of Doppler-derived PH in SCA, assess its influence on exercise capacity, and determine the correlates and predictors of measures of estimated pulmonary pressure...
2017: Vascular Health and Risk Management
https://www.readbyqxmd.com/read/28497434/thalassemia-and-hemoglobinopathies-in-an-ethnic-minority-group-in-central-vietnam-implications-to-health-burden-and-relationship-between-two-ethnic-minority-groups
#10
Nga Thi Nguyen, Kanokwan Sanchaisuriya, Pattara Sanchaisuriya, Hoa Van Nguyen, Hoa Thi Thuy Phan, Goonnapa Fucharoen, Supan Fucharoen
Thalassemia is a genetic condition that can result in long and expensive treatments, and severe thalassemia may lead to death if left untreated. Couples contributing two genes for thalassemia place their children at particular risk for severe thalassemia. Gene frequency of thalassemia varies in Vietnam, but presents remarkably high levels among some ethnic minority groups. Limited information about thalassemia frequency makes prevention and control of thalassemia difficult. This study aimed to determine gene frequency of certain types of thalassemia among 390 women of reproductive age of the Ta-Oi ethnic minority...
May 11, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28489923/differences-of-microparticle-patterns-between-sickle-cell-anemia-and-hemoglobin-sc-patients
#11
Yohann Garnier, Séverine Ferdinand, Maryse Etienne-Julan, Gisèle Elana, Marie Petras, Lydia Doumdo, Benoit Tressières, Marie-Laure Lalanne-Mistrih, Marie-Dominique Hardy-Dessources, Philippe Connes, Marc Romana
Sickle cell anemia (SCA) and hemoglobin SC (HbSC) disease are the two most common forms of sickle cell disease (SCD), a frequent hemoglobinopathy which exhibits a highly variable clinical course. Although high levels of microparticles (MPs) have been consistently reported in SCA and evidence of their harmful impact on the SCA complication occurrences have been provided, no data on MP pattern in HbSC patients has been reported so far. In this study, we determined and compared the MP patterns of 84 HbSC and 96 SCA children, all at steady-state, using flow cytometry...
2017: PloS One
https://www.readbyqxmd.com/read/28483223/temporal-bone-extramedullary-hematopoiesis-as-a-causeof-pediatric-bilateral-conductive-hearing-loss-case-report-and-review-of-the-literature
#12
Alexander Lanigan, M Taylor Fordham
Extramedullary hematopoiesis occurs in children with hemoglobinopathy and chronic anemia. The liver and spleen are often affected first, but other foci can develop to support erythrocyte demand. We report a case of a nine-year-old with beta thalassemia and temporal bone extramedullary hematopoiesis causing ossicular fixation and bilateral conductive hearing loss. There is only one case in the literature describing this phenomenon in pediatric patients, and this is the first case report of bilateral hearing loss from this physiologic phenomenon...
June 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28475397/complex-interaction-of-hb-q-thailand-with-%C3%AE-0-and-%C3%AE-0-thalassemia-in-a-chinese-family
#13
Sheng He, Qian Qin, Li Lin, Qiuli Chen, Shang Yi, Honhwei Wei, Juan Du, Chenguang Zheng, Xiaoxia Qiu, Biyan Chen
Hb Q-Thailand [α74(EF3)Asp→His (α1); HBA1: c.223 G>C] is an abnormal hemoglobin (Hb), variant found mainly in China and Southeast Asian countries. The association of the α(Q)-Thailand allele with other globin gene disorders has important implications in diagnosis. Here, we report a hitherto undescribed condition of patients with a double heterozygosity for Hb Q-Thailand with α(0)-thalassemia (α(0)-thal) and in combination with β(0)-thalassemia (β(0)-thal) in a Chinese family. Our study will provide some clinical manifestations, laboratory diagnosis and genetic counseling for complex hemoglobinopathies...
May 5, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28471198/-can-we-observe-ethnic-difference-in-basic-blood-tests-single-institution-data-from-cancer-prevention-programme-in-the-czech-republic
#14
M Řiháček, D Valík, R Vyzula, L Zdražilová Dubská
BACKGROUND: Laboratory tests are standard part of a routine check-up of current medical status and an important tool in diagnostic workup, in planning or evaluation of treatment, and disease monitoring. To reduce misdiagnosis, accurate reference intervals reflecting age, sex, ethnicity and other relevant clinical parameters must be established. We aimed to explore ethnic difference in basic blood parameters relevant for the Czech Republic. PATIENTS AND METHODS: The study was performed analyzing blood tests from 13,126 individuals in cancer prevention program...
2017: Klinická Onkologie: Casopis Ceské a Slovenské Onkologické Spolecnosti
https://www.readbyqxmd.com/read/28449196/double-trouble-complement-mediated-thrombotic-microangiopathy-in-patients-with-hemoglobinopathies-after-stem-cell-transplantation
#15
Sonata Jodele
No abstract text is available yet for this article.
April 27, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28437292/use-of-electronic-consultation-system-to-improve-access-to-care-in-pediatric-hematology-oncology
#16
Donna L Johnston, Kimmo Murto, Julia Kurzawa, Clare Liddy, Erin Keely, Lillian Lai
BACKGROUND: Electronic consultations (eConsult) allow for communication between primary care providers and specialists in an asynchronous manner. This study examined provider satisfaction, topics of interest, and efficiency of eConsult in pediatric hematology/oncology in Ottawa, Canada. METHODS: We conducted a cross-sectional assessment of all eConsult cases directed to pediatric hematology/oncology specialists using the Champlain BASE (Building Access to Specialists through eConsultation) eConsult service from June 1, 2014 to May 31, 2016...
April 21, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28435037/therapeutic-strategies-in-sickle-cell-anemia-the-past-present-and-future
#17
REVIEW
Queenie Fernandes
Sickle Cell Anemia (SCA) was one of the first hemoglobinopathies to be discovered. It is distinguished by the mutation-induced expression of a sickle cell variant of hemoglobin (HbS) that triggers erythrocytes to take a characteristic sickled conformation. The complex physiopathology of the disease and its associated clinical complications has initiated multi-disciplinary research within its field. This review attempts to lay emphasis on the evolution, current standpoint and future scope of therapeutic strategies in SCA...
June 1, 2017: Life Sciences
https://www.readbyqxmd.com/read/28433448/anemia-complicating-type-2-diabetes-prevalence-risk-factors-and-prognosis
#18
Richard Gauci, Michael Hunter, David G Bruce, Wendy A Davis, Timothy M E Davis
AIMS: To determine the prevalence, risk factors and prognosis of anemia in representative community-based patients with type 2 diabetes. METHODS: Data from the Fremantle Diabetes Study Phase II (FDS2; n=1551, mean age 65.7years, 51.9% males) and Busselton Diabetes Study (BDS; n=186, mean age 70.2years, 50.0% males) cohorts, and from 186 matched BDS participants without diabetes, were analyzed. The prevalence of anemia (hemoglobin ≤130g/L males, ≤120g/L females) was determined in each sample...
April 6, 2017: Journal of Diabetes and its Complications
https://www.readbyqxmd.com/read/28413532/spontaneous-extradural-and-subgaleal-hematoma-a-rare-neurosurgical-crisis-of-sickle-cell-disease
#19
Sudhansu S Mishra, Satya B Senapati, Amiya K Gouda, Sanjay K Behera, Ashis Patnaik
Extradural hematoma (EDH) in absence of trauma is a rare entity with only few cases reported in literature. The various causes reported include: Vascular malformation of dura, coagulopathies, sinus infection, middle ear or orbital infection, and tumor. Occurrence of spontaneous EDH as a complication of sickle cell disease is even much rarer. We report a case with sickle cell disease who presented with spontaneous extradural and subgaleal hematomas following an episode of vaso-oclusive crisis. He was managed successfully with surgery...
January 2017: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/28409222/incidental-splenic-nodules-found-on-mr-imaging-done-for-assessment-of-iron-overload-in-children
#20
Rayan A Ahyad, Christopher Z Lam, Omid Shearkhani, Oscar M Navarro
BACKGROUND: MR imaging is used to assess iron overload in patients with hemoglobinopathies and in those who have undergone multiple blood transfusions. Sometimes splenic nodules are found incidentally on these examinations and this may cause diagnostic uncertainty. OBJECTIVE: To determine the prevalence, imaging characteristics and evolution of splenic nodules found on MR imaging for iron overload evaluation. MATERIALS AND METHODS: Retrospective review of all MR imaging examinations performed for iron overload assessment from 2005 to 2015 in a tertiary pediatric hospital...
April 13, 2017: Pediatric Radiology
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