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Microcytic anemia

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https://www.readbyqxmd.com/read/28186586/-analysis-of-clinical-phenotype-and-genotype-of-unstable-hemoglobin-rush
#1
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
#2
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
#3
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
#4
Rintaro Hashimoto, Tomoki Matsuda
A 69-year-old woman with no significant medical history presented with abdominal pain and frequent vomiting. Laboratory investigation revealed microcytic anemia (hemoglobin 10.1 mg/dL, mean corpuscular volume 79 fL). Contrast-enhanced computed tomography showed small bowel obstruction. Her symptoms were relieved after transnasal ileus tube insertion. The tube was removed four days later. She remained asymptomatic after she resumed eating. Esophagogastroduodenoscopy and colonoscopy showed no abnormal findings...
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
https://www.readbyqxmd.com/read/27579040/il-6-producing-noncatecholamines-secreting-pheochromocytoma-presenting-as-fever-of-unknown-origin
#17
Marco Ciacciarelli, Davide Bellini, Andrea Laghi, Alessandro Polidoro, Antonio Pacelli, Anna Giulia Bottaccioli, Giuseppina Palmaccio, Federica Stefanelli, Piera Clemenzi, Luisa Carini, Luigi Iuliano, Cesare Alessandri
Fever of unknown origin (FUO) can be an unusual first clinical manifestation of pheochromocytoma. Pheochromocytomas are tumors that may produce a variety of substances in addition to catecholamines. To date, several cases of IL-6-producing pheochromocytomas have been reported. This report describes a 45-year-old woman with pheochromocytoma who was admitted with FUO, normal blood pressure levels, microcytic and hypochromic anemia, thrombocytosis, hyperfibrinogenemia, hypoalbuminemia, and normal levels of urine and plasma metanephrines...
2016: Case Reports in Medicine
https://www.readbyqxmd.com/read/27521859/a-new-index-to-discriminate-between-iron-deficiency-anemia-and-thalassemia-trait
#18
Januária F Matos, Luci M S Dusse, Karina B G Borges, Ricardo L V de Castro, Wendel Coura-Vital, Maria das G Carvalho
BACKGROUND: The most common microcytic and hypochromic anemias are iron deficiency anemia and thalassemia trait. Several indices to discriminate iron deficiency anemia from thalassemia trait have been proposed as simple diagnostic tools. However, some of the best discriminative indices use parameters in the formulas that are only measured in modern counters and are not always available in small laboratories. The development of an index with good diagnostic accuracy based only on parameters derived from the blood cell count obtained using simple counters would be useful in the clinical routine...
July 2016: Revista Brasileira de Hematologia e Hemoterapia
https://www.readbyqxmd.com/read/27437228/evaluation-of-platelet-and-red-blood-cell-parameters-with-proposal-of-modified-score-as-discriminating-guide-for-iron-deficiency-anemia-and-%C3%AE-thalassemia-minor
#19
Harish Chandra, Vikas Shrivastava, Smita Chandra, Anil Rawat, Ruchira Nautiyal
INTRODUCTION: Iron Deficiency Anaemia (IDA) and β-Thalassaemia Minor (BTM) are considered to be important cause of microcytic hypochromic anaemia. Studies have evaluated various red cell parameters which are easily available on electronic cell counters for discrimination of IDA and BTM in different ethnic populations. The analysis of previously established red cell discriminative indices with new cut-off have also been done by studies which may be relevant in their set of population for differentiation...
May 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27408422/hematological-and-molecular-characterization-of-hb-j-buda%C3%A2-%C3%AE-61-e10-lys%C3%A2-%C3%A2-%C3%A2-asn-aag%C3%A2-%C3%A2-aat
#20
Sitthichai Panyasai, Nopphadol Permsripong, Kanokwan Jaiping, Pisuttinee Khantarag, Sakorn Pornprasert
Hemoglobin (Hb) J-Buda [α61(E10)Lys → Asn, AAG > AAT] is a very rare α-chain variant found in South-East Asia. We analyzed hematological parameters and provided a rapid molecular analysis method for detection of this hemoglobinopathy in two Thai women who had severe microcytic anemia with Hb and MCV <70 g/L and 80 fL, respectively. The HPLC revealed an abnormal Hb peak eluted ahead of HbA at retention time of 1.91-1.98 min. On CE, the abnormal Hb peak was observed at the electrophoretic zone 12 which corresponded to Hb Bart's...
June 2016: Indian Journal of Hematology & Blood Transfusion
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