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Hemoglobinopathies

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https://www.readbyqxmd.com/read/27900941/the-kidney-in-sickle-hemoglobinopathies%C3%A2
#1
Medha Airy, Garabed Eknoyan
With improvements in the care of patients with sickle hemoglobinopathies, sickle cell disease (SCD) has evolved from a disease that was fatal in childhood into one in which most survive past their 5th decade and some into old age. As a result, the renal complications of sickle hemoglobinopathies, which are age dependent, have emerged as a common and serious complication of SCD. Approximately 14 - 18% of mortality in SCD is attributed to chronic kidney disease (CKD), which develops in 1/3 of individuals with SCD and progresses to end-stage renal disease in 4 - 18% of them...
November 30, 2016: Clinical Nephrology
https://www.readbyqxmd.com/read/27891555/the-epidemiologic-transition-of-thalassemia-and-associated-hemoglobinopathies-in-southern-taiwan
#2
Hui-Ching Wang, Li-Ling Hsieh, Yi-Chang Liu, Hui-Hua Hsiao, Shu-Kai Lin, Wen-Chan Tsai, Ta-Chih Liu
Since 1993, following the National Thalassemia Major Prevention Program and an increase in immigration and interracial marriages, especially in southern Taiwan, the distribution of hemoglobinopathies may have changed. This study investigates the epidemiologic transition of hemoglobinopathies. We analyzed 1870 specimens collected between 2003 and 2012 in southern Taiwan, used gap-polymerase chain reaction and PCR-restriction fragment length polymorphism-based methods, and confirmed genotypes of hemoglobinopathies by DNA sequencing...
November 28, 2016: Annals of Hematology
https://www.readbyqxmd.com/read/27891535/gene-therapy-for-hemoglobin-disorders-a-mini-review
#3
Parul Rai, Punam Malik
Gene therapy by either gene insertion or editing is an exciting curative therapeutic option for monogenic hemoglobin disorders like sickle cell disease and β-thalassemia. The safety and efficacy of gene transfer techniques has markedly improved with the use of lentivirus vectors. The clinical translation of this technology has met with good success, although key limitations include number of engraftable transduced hematopoietic stem cells and adequate transgene expression that results in complete correction of β0 thalassemia major...
2016: Journal of Rare Diseases Research & Treatment
https://www.readbyqxmd.com/read/27891273/orbital-infarction-due-to-sickle-cell-disease-without-orbital-pain
#4
Cameron L McBride, Kim-Binh T Mai, Kartik S Kumar
Sickle cell disease is a hemoglobinopathy that results in paroxysmal arteriolar occlusion and tissue infarction that can manifest in a plurality of tissues. Rarely, these infarcted crises manifest in the bony orbit. Orbital infarction usually presents with acute onset of periorbital tenderness, swelling, erythema, and pain. Soft tissue swelling can result in proptosis and attenuation of extraocular movements. Expedient diagnosis of sickle cell orbital infarction is crucial because this is a potentially sight-threatening entity...
2016: Case Reports in Ophthalmological Medicine
https://www.readbyqxmd.com/read/27883199/hepcidin-detects-iron-deficiency-in-sri-lankan-adolescents-with-a-high-burden-of-hemoglobinopathy-a-diagnostic-test-accuracy-study
#5
Katherine Wray, Angela Allen, Emma Evans, Chris Fisher, Anuja Premawardhena, Lakshman Perera, Rexan Rodrigo, Gayan Goonathilaka, Lebbe Ramees, Craig Webster, Andrew E Armitage, Andrew M Prentice, David J Weatherall, Hal Drakesmith, Sant-Rayn Pasricha
Anemia affects over 800 million women and children globally. Measurement of hepcidin as an index of iron status shows promise, but its diagnostic performance where hemoglobinopathies are prevalent is unclear. We evaluated the performance of hepcidin as a diagnostic test of iron deficiency in adolescents across Sri Lanka. We selected 2273 samples from a nationally representative cross-sectional study of 7526 secondary schoolchildren across Sri Lanka and analyzed associations between hepcidin and participant characteristics, iron indices, inflammatory markers and hemoglobinopathy states...
November 24, 2016: American Journal of Hematology
https://www.readbyqxmd.com/read/27879229/the-incidence-of-ototoxicity-in-patients-using-iron-chelators
#6
Serhan Derin, Fatih Mehmet Azık, Yaşar Topal, Hatice Topal, Volkan Karakuş, Petek Uzay Çetinkaya, Murat Şahan, Tansel Erdem Azık, Can Naci Kocabaş
OBJECTIVE: In this study, we aimed to detect the incidences of ototoxicity in patients with hemoglobinopathies taking deferoxamine (DFO), deferiprone, and deferasirox using the National Cancer Institute (NCI) Common Terminology Criteria for Adverse Events (CTCAE) scale to obtain more objective data. MATERIALS AND METHODS: Fifty-five transfusion-dependent patients were evaluated in this study. The NCI CTCAE scale was used to assess ototoxicity levels. The average ferritin and hemoglobin levels, the type of iron chelator, and the duration of therapy of all the patients were recorded...
November 23, 2016: Journal of International Advanced Otology
https://www.readbyqxmd.com/read/27872769/mantle-cell-hyperplasia-of-peripheral-lymph-nodes-as-initial-manifestation-of-sickle-cell-disease
#7
Ahmad Monabbati, Sadat Noori, Akbar Safaei, Mani Ramzi, Seyedsajjad Eghbali, Ali Adib
Sickle cell disease (SCD) is a well known hemoglobinopathy with usual manifestations including anemia, hyperbilirubinemia, and vasoocclusive complications. Despite presence of mild splenomegaly in early phase of the disease, lymphadenopathy is not an often finding of SCD. We introduce an undiagnosed case of SCD who presented in third decade of his life with multiple cervical lymphadenopathies and mild splenomegaly persistent for about five years. Histopathologic examination of the resected lymph nodes showed expansion of the mantle cell layers of secondary follicles as well as several monomorphic mantle cell nodules...
2016: Case Reports in Hematology
https://www.readbyqxmd.com/read/27853395/animal-models-of-%C3%AE-hemoglobinopathies-utility-and-limitations
#8
REVIEW
Bradley McColl, Jim Vadolas
The structural and functional conservation of hemoglobin throughout mammals has made the laboratory mouse an exceptionally useful organism in which to study both the protein and the individual globin genes. Early researchers looked to the globin genes as an excellent model in which to examine gene regulation - bountifully expressed and displaying a remarkably consistent pattern of developmental activation and silencing. In parallel with the growth of research into expression of the globin genes, mutations within the β-globin gene were identified as the cause of the β-hemoglobinopathies such as sickle cell disease and β-thalassemia...
2016: Journal of Blood Medicine
https://www.readbyqxmd.com/read/27846660/diabetes-in-patients-with-%C3%A3-thalassemia-or-other-hemoglobinopathies-analysis-from-the-dpv-database
#9
K Warncke, K Konrad, E Kohne, E Hammer, U Ohlenschläger, S Herrlinger, A Jäger, R W Holl
Background: Diabetes mellitus is a common endocrinopathy in patients with thalassemia major, but the occurrence of hemoglobinopathies is rare in Germany and Western Europe. The longitudinal German-Austrian DPV (Diabetes Patienten Verlaufsdokumentation) registry allows a comprehensive characterization of this group of patients. Patients/methods: Patients from the DPV-registry aged<30 years with thalassemia major or other hemoglobinopathies were compared to patients with type 1 diabetes (T1D) and type 2 diabetes (T2D) using the statistical software SAS 9...
November 2016: Klinische Pädiatrie
https://www.readbyqxmd.com/read/27845754/secondhand-smoke-is-an-important-modifiable-risk-factor-in-sickle-cell-disease-a-review-of-the-current-literature-and-areas-for-future-research
#10
REVIEW
S Christy Sadreameli, Benjamin T Kopp, Susan E Creary, Michelle N Eakin, Sharon McGrath-Morrow, John J Strouse
Sickle cell disease (SCD) is an autosomal recessive hemoglobinopathy that causes significant morbidity and mortality related to chronic hemolytic anemia, vaso-occlusion, and resultant end-organ damage. Tobacco smoke exposure (TSE) through secondhand smoke exposure in people with SCD of all ages and through primary smoking in adolescents and adults is associated with significantly increased morbidity, with increased rates of emergency department visits and hospitalizations for painful vaso-occlusive crises and acute chest syndrome (ACS)...
November 12, 2016: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/27828729/cross-sectional-study-for-the-detection-of-mutations-in-the-beta-globin-gene-among-patients-with-hemoglobinopathies-in-the-bengali-population
#11
Amrita Panja, Prosanto Chowdhury, Sharmistha Chakraborty, Tapan Kumar Ghosh, Anupam Basu
AIMS: Thalassemia is a common autosomal recessive blood disorder, which is most prevalent in South East Asian and Mediterranean populations. It is considered as a major health burden in the Indian population. The aims of the present study were to investigate the common, as well as uncommon, mutations responsible for thalassemia in the Bengali population. METHODS: The Bengali state was divided into four sampling zones. Mutation detection was done using Sanger sequencing of the HBB gene...
November 9, 2016: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27827854/nutritional-and-micronutrient-status-of-female-workers-in-a-garment-factory-in-cambodia
#12
Jan Makurat, Hanna Friedrich, Khov Kuong, Frank T Wieringa, Chhoun Chamnan, Michael B Krawinkel
BACKGROUND: Concerns about the nutritional status of Cambodian garment workers were raised years ago but data are still scarce. The objectives of this study are to examine the nutritional, hemoglobin and micronutrient status of female workers in a garment factory in Phnom Penh, Cambodia, and to assess if body mass index is associated with hemoglobin and/or micronutrient status. METHODS: A cross-sectional survey was conducted among 223 female workers (nulliparous, non-pregnant) at a garment factory in Phnom Penh...
November 2, 2016: Nutrients
https://www.readbyqxmd.com/read/27814710/methemoglobin-and-nitric-oxide-therapy-in-ugandan-children-hospitalized-for-febrile-illness-results-from-a-prospective-cohort-study-and-randomized-double-blind-placebo-controlled-trial
#13
Andrea L Conroy, Michael Hawkes, Kyla Hayford, Laura Hermann, Chloe R McDonald, Suparna Sharma, Sophie Namasopo, Robert O Opoka, Chandy C John, W Conrad Liles, Christopher Miller, Kevin C Kain
BACKGROUND: Exposure of red blood cells to oxidants increases production of methemoglobin (MHb) resulting in impaired oxygen delivery to tissues. There are no reliable estimates of methemoglobinemia in low resource clinical settings. Our objectives were to: i) evaluate risk factors for methemoglobinemia in Ugandan children hospitalized with fever (study 1); and ii) investigate MHb responses in critically ill Ugandan children with severe malaria treated with inhaled nitric oxide (iNO), an oxidant that induces MHb in a dose-dependent manner (study 2)...
November 4, 2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27805332/reticulocyte-hemoglobin-vis-a-vis-serum-ferritin-as-a-marker-of-bone-marrow-iron-store-in-iron-deficiency-anemia
#14
Sudhir Mehta, Laxmi Kant Goyal, Debashish Kaushik, Sandhya Gulati, Nidhi Sharma, L Harshvardhan, Naveen Gupta
AIM: To evaluate reticulocyte hemoglobin (RET-He) vis-a-vis serum ferritin as a marker of bone marrow iron store in iron deficiency anemia (IDA). MATERIAL AND METHODS: A hospital based analytic study was conducted among patients (age group 15-65 years) with newly diagnosed and untreated IDA admitted in medicine ward and not suffering from any inflammatory disorders (excluded by C-reactive protein). Patient having other forms of anemia/ hemoglobinopathies/ malignancy, MCV > 80 fL and pregnant female were excluded...
November 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27804209/national-registry-of-hemoglobinopathies-in-spain-rephem
#15
Elena Cela, José M Bellón, María de la Cruz, Cristina Beléndez, Rubén Berrueco, Anna Ruiz, Izaskun Elorza, Cristina Díaz de Heredia, Aurea Cervera, Griselda Vallés, J Antonio Salinas, M Teresa Coll, Mar Bermúdez, Marta Prudencio, Bienvenida Argilés, Cruz Vecilla
BACKGROUND: Although highly prevalent throughout the world, the accurate prevalence of hemoglobinopathies in Spain is unknown. PROCEDURE: This study presents data on the national registry of hemoglobinopathies of patients with thalassemia major (TM), thalassemia intermedia (TI), and sickle cell disease (SCD) in Spain created in 2014. Fifty centers reported cases retrospectively. Data were registered from neonatal screening or from the first contact at diagnosis until last follow-up or death...
November 2, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27802331/inflammation-in-sickle-cell-disease-differential-and-down-expressed-plasma-levels-of-annexin-a1-protein
#16
Lidiane S Torres, Jéssika V Okumura, Danilo G H Silva, Kallyne K O Mimura, Édis Belini-Júnior, Renan G Oliveira, Clarisse L C Lobo, Sonia M Oliani, Claudia R Bonini-Domingos
Sickle cell disease (SCD) is an inherited hemolytic anemia whose pathophysiology is driven by polymerization of the hemoglobin S (Hb S), leading to hemolysis and vaso-occlusive events. Inflammation is a fundamental component in these processes and a continuous inflammatory stimulus can lead to tissue damages. Thus, pro-resolving pathways emerge in order to restore the homeostasis. For example there is the annexin A1 (ANXA1), an endogenous anti-inflammatory protein involved in reducing neutrophil-endothelial interactions, accelerating neutrophil apoptosis and stimulating macrophage efferocytosis...
2016: PloS One
https://www.readbyqxmd.com/read/27795225/the-clinical-significance-of-schistocytes-a-prospective-evaluation-of-the-icsh-schistocyte-guidelines
#17
Elise Schapkaitz, Michael Halefom Mezgebe
OBJECTIVE: The presence of ≥ 1% schistocytes on peripheral blood smear (PBS) is an important criterion for the diagnosis of a thrombotic microangiopathy (TMA). The reporting of schistocytes has been standardized by the International Council for Standardization in Hematology (ICSH).Despite the availability of guidelines, the assessment of schistocytes remains subjective. More recently, the automated fragmented red cell (FRC) parameter has been evaluated. However, local studies are not available...
October 31, 2016: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
https://www.readbyqxmd.com/read/27777473/changes-seen-on-computed-tomography-of-the-chest-in-mildly-symptomatic-adult-patients-with-sickle-cell-disease
#18
Ursula David Alves, Agnaldo José Lopes, Maria Christina Paixão Maioli, Andrea Ribeiro Soares, Pedro Lopes de Melo, Roberto Mogami
OBJECTIVE: To describe and quantify the main changes seen on computed tomography of the chest in mildly symptomatic adult patients with sickle cell disease, as well as to evaluate the radiologist accuracy in determining the type of hemoglobinopathy. MATERIALS AND METHODS: A prospective study involving 44 adult patients with sickle cell disease who underwent inspiration and expiration computed tomography of the chest. The frequency of tomography findings and the extent of involvement are reported...
July 2016: Radiologia Brasileira
https://www.readbyqxmd.com/read/27774352/feasibility-of-a-community-based-sickle-cell-trait-testing-and-counseling-program
#19
Ashley J Housten, Regina A Abel, Terianne Lindsey, Allison A King
BACKGROUND: Sickle cell trait (SCT) screening is required at birth in the United States; however, adults rarely know their SCT status prior to having children. PURPOSE: Assess feasibility of a community-based SCT education and testing intervention. METHODS: Participants were recruited from eight community sites to complete an educational program and offered a hemoglobin analysis. A genetic counselor met individually with participants to discuss lab results...
2016: Journal of Health Disparities Research and Practice
https://www.readbyqxmd.com/read/27767389/correlation-of-sin3a-genomic-variants-with-%C3%AE-hemoglobinopathies-disease-severity-and-hydroxyurea-treatment-efficacy
#20
Aikaterini Gravia, Vasiliki Chondrou, Alexandra Kolliopoulou, Alexandra Kourakli, Anne John, Argyris Symeonidis, Bassam R Ali, Argyro Sgourou, Adamantia Papachatzopoulou, Theodora Katsila, George P Patrinos
AIMS: Hemoglobinopathies, particularly β-thalassemia and sickle cell disease, are characterized by great phenotypic variability in terms of disease severity, while notable differences have been observed in hydroxyurea treatment efficacy. In both cases, the observed phenotypic diversity is mostly dependent on the elevated fetal hemoglobin levels, resulting from the persistent fetal globin gene expression in the adult erythroid stage orchestrated by intricate mechanisms that still remain only partly understood...
October 21, 2016: Pharmacogenomics
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