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Microcytic anemia

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https://www.readbyqxmd.com/read/27765664/differentiation-of-pernicious-anemia-from-thrombotic-thrombocytopenic-purpura-the-clinical-value-of-subtle-pathologic-findings
#1
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...
September 28, 2016: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/27713998/diagnosis-of-iron-deficiency-anemia-using-density-based-fractionation-of-red-blood-cells
#2
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
#3
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
#4
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 30, 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
#5
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
#6
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
#7
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
#8
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 14, 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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/27403535/effects-of-glyt1-inhibition-on-erythropoiesis-and-iron-homeostasis-in-rats
#14
Michael Winter, Jürgen Funk, Annette Körner, Daniela Alberati, Francois Christen, Georg Schmitt, Bernd Altmann, Andreas Pospischil, Thomas Singer
Glycine is a key rate-limiting component of heme biosynthesis in erythropoietic cells, where the high intracellular glycine demand is primarily supplied by the glycine transporter 1 (GlyT1). The impact of intracellular glycine restriction after GlyT1 inhibition on hematopoiesis and iron regulation is not well established. We investigated the effects of a potent and selective inhibitor of GlyT1, bitopertin, on erythropoiesis and iron homeostasis in rats. GlyT1 inhibition significantly affected erythroid heme biosynthesis, manifesting as microcytic hypochromic regenerative anemia with a 20% steady-state reduction in hemoglobin...
October 2016: Experimental Hematology
https://www.readbyqxmd.com/read/27365303/iron-refractory-iron-deficiency-anemia-may-not-lead-to-neurocognitive-dysfunction-a-case-report
#15
Valérie Arsenault, Chantal Mailloux, Arnaud Bonnefoy, Emmanuelle Lemyre, Yves Pastore
Iron deficiency is a common cause of anemia (IDA) in infancy and can be associated with neurocognitive impairments. Iron-refractory IDA (IRIDA) has recently been described as an inherited cause of IDA due to loss-of-function mutations in the TMPRSS6 gene. IRIDA is characterized by a lack of response to iron replacement. Here we report a new case of IRIDA with its biological parameters and its functional consequences, including neuropsychological impact. The latter was evaluated by the Wechsler Preschool and Primary Scale of Intelligence-Fourth Edition and subtests...
July 2016: Pediatrics
https://www.readbyqxmd.com/read/27339814/molecular-analysis-of-complex-cases-of-alpha-and-beta-thalassemia-in-mexican-mestizo-patients-with-microcytosis-and-hypochromia-reveals-two-novel-alpha-0-thalassemia-deletions-mex1-and-mex2
#16
E I de-la-Cruz-Salcedo, B Ibarra, L C Rizo-de-la-Torre, J Y Sánchez-López, A González-Mercado, C L Harteveld, F J Perea-Díaz
INTRODUCTION: Alpha-thalassemia (α-thal) is a common monogenic disorder worldwide. In mixed ethnic populations, α-thal and beta-thalassemia (β-thal) can be expected, sometimes giving complex phenotypes, which without molecular analysis are not easily explained. We performed the molecular identification of α- and β-thal alleles in 51 Mexican patients with microcytosis, hypochromia, and normal or low levels of HbA2 . METHODS: Common deletional alleles (-α(3...
October 2016: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/27339613/a-comparative-evaluation-of-eosin-5-maleimide-flow-cytometry-reveals-a-high-diagnostic-efficacy-for-hereditary-spherocytosis
#17
P Joshi, A Aggarwal, M Jamwal, M U S Sachdeva, D Bansal, P Malhotra, P Sharma, R Das
INTRODUCTION: Laboratory diagnosis of hereditary spherocytosis (HS) relies on increased incubated red cell osmotic fragility test for screening. We evaluated the diagnostic role of eosin-5'-maleimide (EMA) binding test by flow cytometry in spherocytic and microcytic hypochromic hematological disorders in North Indians. METHODS: EMA binding test using flow cytometry was performed on 55 HS (40 families), 26 iron deficiency anemia (IDA), 32 β-thalassemia trait (βTT), and 10 autoimmune hemolytic anemia (AIHA) cases and 121 normals...
October 2016: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/27335995/severe-iron-deficiency-anemia-in-infants-and-young-children-requiring-hospital-admission
#18
Kristin Lundblad, Jonathan Rosenberg, Henry Mangurten, Denise B Angst
Objective. This study evaluated patient characteristics, milk intake, and associated lab findings of children 6 months to 5 years old, admitted to a children's hospital with severe iron-deficiency anemia (IDA). Methods. A chart review was conducted on patients admitted with microcytic anemia (hemoglobin concentration less than 7 g/dL), accompanied by a low serum ferritin and/or low serum iron level between January 2000 and December 2006. Results. A total of 18 children with severe IDA were evaluated. Many had parents with private insurance and jobs...
2016: Global Pediatric Health
https://www.readbyqxmd.com/read/27331785/loss-of-divalent-metal-transporter-1-function-promotes-brain-copper-accumulation-and-increases-impulsivity
#19
Murui Han, JuOae Chang, Jonghan Kim
The divalent metal transporter 1 (DMT1) is a major iron transporter required for iron absorption and erythropoiesis. Loss of DMT1 function results in microcytic anemia. While iron plays an important role in neural function, the behavioral consequences of DMT1 deficiency are largely unexplored. The goal of this study was to define the neurobehavioral and neurochemical phenotypes of homozygous Belgrade (b/b) rats that carry DMT1 mutation and explore potential mechanisms of these phenotypes. The b/b rats (11-12 weeks old) and their healthy littermate heterozygous (+/b) Belgrade rats were subject to elevated plus maze tasks...
September 2016: Journal of Neurochemistry
https://www.readbyqxmd.com/read/27262832/iron-deficiency-without-anemia-a-common-yet-under-recognized-diagnosis-in-young-women-with-heavy-menstrual-bleeding
#20
Stephen Johnson, Abigail Lang, Mollie Sturm, Sarah H O'Brien
STUDY OBJECTIVE: To assess the proportion of iron deficiency that is not detected with a screening hemoglobin or complete blood count (CBC) alone in young women with heavy menstrual bleeding. DESIGN: Retrospective review of electronic medical records SETTING: Nationwide Children's Hospital in Columbus, Ohio PARTICIPANTS: 114 young women ages 9-19 years consecutively referred to a Young Women's Hematology Clinic with a complaint of heavy menstrual bleeding RESULTS: Fifty-eight (50...
June 1, 2016: Journal of Pediatric and Adolescent Gynecology
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