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Microcytic anemia

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https://www.readbyqxmd.com/read/28318177/can-soluble-transferrin-receptor-be-used-in-diagnosing-iron-deficiency-anemia-and-assessing-iron-response-in-infants-with-moderate-acute-malnutrition
#1
Bahar Bu Yu Kkaragöz, Necat A Akgun, Ayse D Bulus, Sultan Durmus Aydogdu, Cengiz Bal
OBJECTIVE: To evaluate the efficacy of soluble transferrin receptor (sTfR) in diagnosing iron deficiency anemia (IDA) and evaluating iron response in infants with moderate acute malnutrition (MAM). POPULATION AND METHODS: Infants with hemoglobin (Hb) levels lower than threshold values for anemia for their ages and hypochromic/ microcytic anemia on peripheral smear were recruited. MAM was defined as weight/height z score < -2 to -3. Complete blood count (CBC), iron parameters and sTfR were compared among 41 infants with MAM and anemia (MA group), 32 infants with anemia without MAM (group A), and healthy controls (n= 30)...
April 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28314600/anemia-and-hematinic-deficiencies-in-gastric-parietal-cell-antibody-positive-and-negative-oral-mucosal-disease-patients-with-microcytosis
#2
Hung-Pin Lin, Yu-Hsueh Wu, Yi-Ping Wang, Yang-Che Wu, Julia Yu-Fong Chang, Andy Sun
BACKGROUND/PURPOSE: Microcytosis is defined as mean corpuscular volume (MCV) < 80 fL. This study assessed the anemia statuses and hematinic deficiencies in 30 patients with gastric parietal cell antibody-positive microcytosis (GPCA+/microcytosis) and 210 patients with GPCA-negative microcytosis (GPCA-/microcytosis). METHODS: We measured and compared the mean red blood cell (RBC) count, MCV, and RBC distribution width (RDW), as well as blood levels of hemoglobin, iron, vitamin B12, folic acid, and homocysteine among the aforementioned patient groups and 240 healthy controls...
March 14, 2017: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/28299211/epistaxis-as-a-common-presenting-symptom-of-glanzmann-s-thrombasthenia-a-rare-qualitative-platelet-disorder-illustrative-case-examples
#3
Michael Recht, Meera Chitlur, Derek Lam, Syana Sarnaik, Madhvi Rajpurkar, David L Cooper, Sriya Gunawardena
Children often present to emergency departments (EDs) with uncontrollable nose bleeding. Although usually due to benign etiologies, epistaxis may be the presenting symptom of an inherited bleeding disorder. Whereas most bleeding disorders are detected through standard hematologic assessments, diagnosing rare platelet function disorders may be challenging. Here we present two case reports and review diagnostic and management challenges of platelet function disorders with a focus on Glanzmann's thrombasthenia (GT)...
2017: Case Reports in Emergency Medicine
https://www.readbyqxmd.com/read/28291568/anemia-and-hematinic-deficiencies-in-oral-mucosal-disease-patients-with-microcytosis
#4
Yu-Hsueh Wu, Yi-Ping Wang, Julia Yu-Fong Chang, Yang-Che Wu, Hsin-Ming Chen, Andy Sun
BACKGROUND/PURPOSE: Patients with microcytosis (defined as mean corpuscular volume < 80 fL) are not uncommonly found in oral mucosal disease clinics. This study assessed the anemia statuses and hematinic deficiencies in 240 oral mucosal disease patients with microcytosis. METHODS: The mean red blood cell (RBC) count, mean corpuscular volume, and RBC distribution width, as well as blood concentrations of hemoglobin (Hb), iron, vitamin B12, folic acid, and homocysteine in 240 microcytosis patients and in 240 age- and sex-matched healthy control individuals were measured and compared...
March 11, 2017: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/28186586/-analysis-of-clinical-phenotype-and-genotype-of-unstable-hemoglobin-rush
#5
Shijun Ge, Biqing Yang, Wei Yi, Kai Huang, Hongxian Liu, Xiaoqin Huang, Jiayou Chu, Zhaoqing Yang
OBJECTIVE: To analyze the hematological and genetic characteristics of unstable hemoglobin Rush (Hb Rush) and compound heterozygote of Hb Rush and thalassemia. METHODS: Peripheral blood samples and genomic DNA from three patients (including two ethnic Dai and one Han Chinese) with anemia of undetermined origin were collected. Hematological phenotypes of these patients were determined through red blood cell analysis and hemoglobin electrophoresis. Genotypes of alpha- and beta-globin genes, -158 XmnⅠ polymorphic site of (G)γ promoter region, and haplotypes of 7 polymorphic restriction sites in the beta-globin gene cluster were determined using PCR-based methods and DNA sequencing...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28185024/disturbed-iron-metabolism-in-erythropoietic-protoporphyria-and-association-of-gdf15-and-gender-with-disease-severity
#6
Jasmin Barman-Aksoezen, Domenico Girelli, Caterina Aurizi, Xiaoye Schneider-Yin, Natascia Campostrini, Luca Barbieri, Elisabeth I Minder, Gianfranco Biolcati
Patients with erythropoietic protoporphyria (EPP) have reduced activity of the enzyme ferrochelatase that catalyzes the insertion of iron into protoporphyrin IX (PPIX) to form heme. As the result of ferrochelatase deficiency, PPIX accumulates and causes severe photosensitivity. Among different patients, the concentration of PPIX varies considerably. In addition to photosensitivity, patients frequently exhibit low serum iron and a microcytic hypochromic anemia. The aims of this study were to (1) search for factors related to PPIX concentration in EPP, and (2) characterize anemia in EPP, i...
February 9, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28182576/critical-appraisal-of-discriminant-formulas-for-distinguishing-thalassemia-from-iron-deficiency-in-patients-with-microcytic-anemia
#7
Eloísa Urrechaga, Johannes J M L Hoffmann
BACKGROUND: Many discriminant formulas have been reported for distinguishing thalassemia trait from iron deficiency in patients with microcytic anemia. Independent verification of several discriminant formulas is deficient or even lacking. Therefore, we have retrospectively investigated discriminant formulas in a large, well-characterized patient population. METHODS: The investigational population consisted of 2664 patients with microcytic anemia: 1259 had iron deficiency, 1196 'pure' thalassemia trait (877 β- and 319 α-thalassemia), 150 had thalassemia trait with concomitant iron deficiency or anemia of chronic disease, and 36 had other diseases...
February 9, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28066936/intestinal-ascariasis-detected-by-double-balloon-enteroscopy
#8
LETTER
Rintaro Hashimoto, Tomoki Matsuda
No abstract text is available yet for this article.
January 9, 2017: Digestive Endoscopy: Official Journal of the Japan Gastroenterological Endoscopy Society
https://www.readbyqxmd.com/read/27992014/prevalence-and-management-of-anemia-in-pre-dialysis-malaysian-patients-a-hospital-based-study
#9
Muhammad Salman, Amer Hayat Khan, Azreen Syazril Adnan, Syed Azhar Syed Sulaiman, Khalid Hussain, Naureen Shehzadi, Muhammad Islam, Fauziah Jummaat
Objective: Anemia, a common complication of chronic kidney diseases (CKD), is involved in significant cardiovascular morbidity. Therefore, the objective of our study was to investigate the prevalence and severity of anemia in pre-dialysis patients, as well as to determine the predictors of anti-anemic therapy. Method: A retrospective, observational study was conducted on adult pre-dialysis patients receiving treatment at the Hospital Universiti Sains Malaysia from January 2009 to December 2013...
November 2016: Revista da Associação Médica Brasileira
https://www.readbyqxmd.com/read/27920648/synchronous-adenocarcinoma-of-the-colon-and-rectal-carcinoid
#10
Vamshidhar Vootla, Rafeeq Ahmed, Masooma Niazi, Bhavna Balar, Suresh Nayudu
Primary colonic adenocarcinoma and synchronous rectal carcinoids are rare tumors. Whenever a synchronous tumor with a nonmetastatic carcinoid component is encountered, its prognosis is determined by the associate malignancy. The discovery of an asymptomatic gastrointestinal carcinoid during the operative treatment of another malignancy will usually only require resection without additional treatment and will have little effect on the prognosis of the individual. This article reports a synchronous rectal carcinoid in a patient with hepatic flexure adenocarcinoma...
September 2016: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/27917348/resolution-of-constipation-anal-stricture-and-iron-deficiency-anemia-after-iron-infusion-an-analogy-with-plummer-vinson-syndrome
#11
Vijaypal Arya, Shikha Singh, Shashank Agarwal, Arjun Ohri
BACKGROUND: Anal stricture is a disabling condition which is often unresponsive to conservative medical management. The complications of surgical procedures such as dilatations and anoplasty make it a formidable treatment challenge. Through this case, we report and explore a new medical treatment for ano-rectal strictures with an analogy to Plummer Vinson syndrome. A 69-year-old male presented with chronic constipation, rectal pain, and easy fatigability. The physical exam was negative for anal fissure and a digital rectal examination could not be completed because an index finger could not be advanced through the narrowed anus...
2016: SpringerPlus
https://www.readbyqxmd.com/read/27765664/differentiation-of-pernicious-anemia-from-thrombotic-thrombocytopenic-purpura-the-clinical-value-of-subtle-pathologic-findings
#12
Daniel W Abbott, Kenneth D Friedman, Matthew S Karafin
BACKGROUND: Thrombotic thrombocytopenic purpura (TTP) is a microangiopathic hemolytic anemia that requires emergent treatment with plasma exchange and is one of the most important conditions for which apheresis service professionals are consulted. Careful interpretation of initial laboratory values and the peripheral blood smear is a critical first step to determining the need for plasma exchange because other conditions can show deceptively similar red cell morphology, and ADAMTS13 levels are often not rapidly available...
December 2016: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/27713998/diagnosis-of-iron-deficiency-anemia-using-density-based-fractionation-of-red-blood-cells
#13
Jonathan W Hennek, Ashok A Kumar, Alex B Wiltschko, Matthew R Patton, Si Yi Ryan Lee, Carlo Brugnara, Ryan P Adams, George M Whitesides
Iron deficiency anemia (IDA) is a nutritional disorder that impacts over one billion people worldwide; it may cause permanent cognitive impairment in children, fatigue in adults, and suboptimal outcomes in pregnancy. IDA can be diagnosed by detection of red blood cells (RBCs) that are characteristically small (microcytic) and deficient in hemoglobin (hypochromic), typically by examining the results of a complete blood count performed by a hematology analyzer. These instruments are expensive, not portable, and require trained personnel; they are, therefore, unavailable in many low-resource settings...
October 5, 2016: Lab on a Chip
https://www.readbyqxmd.com/read/27701695/-67-year-old-woman-with-long-standing-microcytic-anemia
#14
Friederike Braulke, Stephan Lüders, Jörg Bäsecke
No abstract text is available yet for this article.
September 2016: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/27690152/molecular-study-of-deletional-and-nondeletional-mutations-on-the-%C3%AE-globin-locus-in-the-azeri-population-of-northwestern-iran
#15
Sima M Derakhshan, Mahmoud S Khaniani, Fateme Afkhami, Abbasali H PourFeizi
The aim of this study was to determine the molecular spectrum and frequency of deletional and nondeletional α-thalassemia (α-thal) mutations and the genotype-phenotype correlation in common mutations in the Azeri population of Northwestern Iran. A total of 1256 potential carriers with microcytic and hypochromic anemia and normal Hb A2 levels (<3.5%) and without iron deficiency anemia plus three fetuses were identified. Multiplex gap-polymerase chain reaction (gap-PCR) and sequencing for α-thal mutations were carried out...
September 2016: Hemoglobin
https://www.readbyqxmd.com/read/27662012/mutating-heme-oxygenase-1-into-a-peroxidase-causes-a-defect-in-bilirubin-synthesis-associated-with-microcytic-anemia-and-severe-hyperinflammation
#16
Johann Greil, Maria V Verga-Falzacappa, Nicole E Echner, Wolfgang Behnisch, Obul R Bandapalli, Paulina Pechanska, Stephan Immenschuh, Vijith Vijayan, Jozsef Balla, Hirokatsu Tsukahara, Marion Schneider, Gritta Janka, Maren Claus, Thomas Longerich, Martina U Muckenthaler, Andreas Kulozik
No abstract text is available yet for this article.
August 4, 2016: Haematologica
https://www.readbyqxmd.com/read/27648315/a-26-year-old-female-with-systemic-mastocytosis-with-associated-myeloid-neoplasm-with-eosinophilia-and-abnormalities-of-pdgfrb-t-4-5-q21-q33
#17
Laura E Brown, Da Zhang, Diane L Persons, Abdulraheem Yacoub, Shivani Ponnala, Wei Cui
Various translocations involving the PDGFRB gene are identified in myeloid neoplasms. However, the PRKG2/PDGFRB fusion gene associated with t(4;5)(q21;q33) has previously been reported in only 3 patients. We present the case of a 26-year-old woman with microcytic anemia, basophilia, thrombocytosis, and massive splenomegaly, who was found to have systemic mastocytosis and associated clonal hematological non-mast cell lineage disease (SM-AHNMD), with myeloid neoplasm with PRKG2/PDGFRB rearrangement. Initial findings included basophilia (37%, 4...
2016: Case Reports in Hematology
https://www.readbyqxmd.com/read/27643674/iron-refractory-iron-deficiency-anemia-a-heterogeneous-disease-that-is-not-always-iron-refractory
#18
Albertine E Donker, Charlotte C M Schaap, Vera M J Novotny, Roel Smeets, Tessa M A Peters, Bert L P van den Heuvel, Martine F Raphael, Anita W Rijneveld, Inge M Appel, Andre J Vlot, A Birgitta Versluijs, Michel van Gelder, Bernd Granzen, Mirian C H Janssen, Alexander J M Rennings, Frank L van de Veerdonk, Paul P T Brons, Dirk L Bakkeren, Marten R Nijziel, L Thom Vlasveld, Dorine W Swinkels
TMPRSS6 variants that affect protein function result in impaired matriptase-2 function and consequently uninhibited hepcidin production, leading to iron refractory iron deficiency anemia (IRIDA). This disease is characterized by microcytic, hypochromic anemia and serum hepcidin values that are inappropriately high for body iron levels. Much is still unknown about its pathophysiology, genotype-phenotype correlation, and optimal clinical management. We describe 14 different TMPRSS6 variants, of which 9 are novel, in 21 phenotypically affected IRIDA patients from 20 families living in the Netherlands; 16 out of 21 patients were female...
December 2016: American Journal of Hematology
https://www.readbyqxmd.com/read/27624280/hb-olivet-hba1-c-40g%C3%A2-%C3%A2-a-p-ala14thr-a-novel-silent-hemoglobin-variant-in-two-families-of-distinct-origin
#19
Cornelis L Harteveld, Serge Pissard, Anna M H Korver, Jean Riou, Eric Legac, Gideon Lansbergen, Inge L Pardijs, Piero C Giordano, Florens G A Versteegh
We report two families, members of which are carriers of a novel hemoglobin (Hb) variant that was named Hb Olivet [α13(A11)Ala→Thr (α1) (GCC > ACC); HBA1: c.40G > A; p.Ala14Thr]. The analysis of these cases allowed a clear description of this anomaly that behaves as a silent Hb. In the first family, of Portuguese ethnicity living in France, the proband, a 24-year-old male and his 57-year-old mother, both appeared to be carriers. The son presented with borderline mean corpuscular volume (MCV), while the mother was normocytic and normochromic...
September 2016: Hemoglobin
https://www.readbyqxmd.com/read/27591578/modulation-of-fetal-hemoglobin-in-hereditary-persistence-of-fetal-hemoglobin-deletion-type-2-compared-to-sicilian-%C3%AE-%C3%AE-thalassemia-by-bcl11a-and-sox6-targeting-micrornas
#20
Thais A Fornari, Carolina Lanaro, Dulcinéia M Albuquerque, Regiane Ferreira, Fernando F Costa
Hereditary persistence of fetal hemoglobin deletion type-2 (HPFH-2) and Sicilian-δβ-thalassemia are conditions described as large deletions of the human β-like globin cluster, with absent β-globin chains and a compensatory variable increase in γ-globin. HPFH, in general, may be distinguished from DB-Thalassemia by higher fetal hemoglobin (HbF) levels, absence of anemia and hypochromic and microcytic erythrocytes. MicroRNAs (miRNAs) regulate a range of cellular processes including erythropoiesis and regulation of transcription factors such as the BCL11A and SOX6 genes, which are related to the regulation of γ-globin expression...
September 3, 2016: Experimental Biology and Medicine
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