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Microcytic anemia

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https://www.readbyqxmd.com/read/28531196/co-inheritance-of-glucose-6-phosphate-dehydrogenase-deficiency-mutations-and-hemoglobin-e-in-a-kachin-population-in-a-malaria-endemic-region-of-southeast-asia
#1
Zeshuai Deng, Fang Yang, Yao Bai, Lijun He, Qing Li, Yanrui Wu, Lan Luo, Hong Li, Limei Ma, Zhaoqing Yang, Yongshu He, Liwang Cui
Glucose-6-phosphate dehydrogenase (G6PD) deficiency and hemoglobin E (HbE, β26 Glu-Lys) are two common red cell disorders in Southeast Asia. G6PD deficiency produces hemolytic anemia, which can be triggered by certain drugs or infections. HbE is asymptomatic or is manifested as microcytic, minimally hemolytic anemia. The association between G6PD deficiency and HbE is little understood. This study aimed to investigate G6PD deficiency and HbE in a Kachin ethnic group in the China-Myanmar border area. G6PD enzyme activity was measured using a quantitative G6PD assay, G6PD variants genotyped by the SNaPshot assay, and an HbE gene mutation identified by an amplification refractory mutation system and subsequently confirmed by using a reverse dot blot hybridization assay from 100 unrelated individuals in the study area...
2017: PloS One
https://www.readbyqxmd.com/read/28496538/iron-pill-gastritis-an-under-diagnosed-condition-with-potentially-serious-outcomes
#2
Tagore Sunkara, Megan E Caughey, Sofia Nigar, Raquel Olivo, Vinaya Gaduputi
Given the ubiquitous use of oral iron therapy, their side effects are often encountered and well recognized in clinical practice. However, iron pill gastritis remains an often under-reported and elusive diagnosis. An astute clinician should be aware of this condition in order to promptly discontinue oral iron and institute timely treatment. Here in, we present a case of a 46-year-old woman who presented to the gastroenterology clinic with vague epigastric pain and microcytic anemia. Esophagogastroduodenoscopy revealed multiple gastric erosions and non-bleeding gastric antral ulcer with biopsies showing excessive iron deposition suggestive of iron pill gastritis...
April 2017: Gastroenterology Research
https://www.readbyqxmd.com/read/28495915/extracellular-glycine-is-necessary-for-optimal-hemoglobinization-of-erythroid-cells
#3
Daniel Garcia-Santos, Matthias Schranzhofer, Richard Bergeron, Alex D Sheftel, Prem Ponka
Vertebrate heme synthesis requires three substrates: succinyl-CoA, which regenerates in the tricarboxylic acid cycle, iron and glycine. For each heme molecule synthesized, one atom of iron and eight molecules of glycine are needed. Inadequate delivery of iron to immature erythroid cells leads to a decreased production of heme, but virtually nothing is known about the consequence of an insufficient supply of extracellular glycine on the process of hemoglobinization. To address this issue, we exploited mice in which the gene encoding glycine transporter 1 (GlyT1) was disrupted...
May 11, 2017: Haematologica
https://www.readbyqxmd.com/read/28491880/iron-refractory-iron-deficiency-anemia-in-dizygotic-twins-due-to-a-novel-tmprss6-gene-mutation-in-addition-to-polymorphisms-associated-with-high-susceptibility-to-develop-ferropenic-anemia
#4
Joana Pinto, Gustavo Nobre de Jesus, Mónica Palma Anselmo, Lúcia Gonçalves, Daniela Brás, João Madeira Lopes, João Meneses, Rui Victorino, Paula Faustino
Iron refractory iron deficiency anemia (IRIDA) is an autosomal recessive ferropenic anemia. Its hypochromic microcytic pattern is associated with low transferrin saturation, normal-high ferritin, and inappropriately high hepcidin level. This entity is caused by mutants of the TMPRSS6 gene that encodes the protein matriptase II, which influences hepcidin expression, an iron metabolism counterregulatory protein. We report two 29-year-old dizygotic female twins with ferropenic, hypochromic microcytic anemia with 20 years of evolution, refractory to oral iron therapy...
April 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28458927/papillary-fibroelastoma-as-a-cause-of-cardiogenic-embolic-stroke-in-a-%C3%AE-thalassemia-patient-case-report-and-literature-review
#5
Re-I Chin, John J Monda, Maulik Sheth, William Ogle, Gloria Merenda, Debapriya De
We describe a case of a young male without stroke risk factors who presented with a sudden onset of left-sided weakness, left hand numbness, and left eye blurriness. CT scan of the head without contrast and diffusion-weighted MRI of the brain with contrast revealed an ischemic stroke in the right middle cerebral artery distribution. Transesophageal echocardiography (TEE) revealed a mobile pedunculated mass on the posterior surface of the mitral valve. This mass was resected and pathology showed a cardiac papillary fibroelastoma (CPFE), which was determined to be the cause of the patient's cardioembolic stroke...
2017: Case Reports in Cardiology
https://www.readbyqxmd.com/read/28453928/the-clinical-severity-of-hemoglobin-s-black-a-%C3%AE-%C3%AE-%C3%AE-0-thalassemia
#6
Maria I Cancio, Banu Aygun, David H K Chui, Jennifer A Rothman, J Paul Scott, Jeremie H Estepp, Jane S Hankins
Hemoglobin S/Black ((A) γδβ)(0) -thalassemia is a rare sickle cell disease (SCD) variant. On the basis of limited descriptions in the literature, the disease is reported as a mild microcytic anemia with an uncomplicated course. We report the clinical and laboratory data of nine patients whose diagnoses were confirmed by DNA-based techniques. Despite having mild anemia and high fetal hemoglobin level postinfancy, these patients developed many of the classic complications of SCD, including vaso-occlusive crisis, acute chest syndrome, avascular necrosis, and cholelithiasis...
April 28, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28447549/a-child-with-severe-iron-deficiency-anemia-and-a-complex-tmprss6-genotype
#7
Anna Paola Capra, Elisa Ferro, Laura Cannavò, Maria Angela La Rosa, Giuseppina Zirilli
OBJECTIVES: We report a case of a 7-year-old girl with severe hypochromic microcytic anemia, who was unresponsive to classical iron supplements. We suspected IRIDA, iron-refractory iron-deficiency anemia, a genetic iron metabolism disorder, caused by TMPRSS6 variations. TMPRSS6 encodes matriptase-2, a negative regulator of hepcidin, and its pathological variants are related to normal to high levels of hepcidin. We analyzed the TMPRSS6 gene and we improved clinical management of the patient, selecting the appropriate supplementation therapy...
April 27, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28425258/assessment-of-developmental-and-radiological-long-term-outcomeof-children-with-surgically-treated-midgut-volvulus
#8
Ahmet Murat Çakmak, Özlem Boybeyi Türer, Gülnur Göllü Bahadir, Bilge Türedi, Ufuk Ateş, Adalet Elçin Yildiz, Gönül Küçük, Ömer Suat Fitöz, Betül Ulukol, Mustafa Kemal Aslan, Tutku Soyer, Hüseyin Dindar
BACKGROUND/AIM: The aim is to evaluate the long-term outcome of asymptomatic patients who underwent surgical correction for midgut volvulus. MATERIALS AND METHODS: Seven patients managed surgically for midgut volvulus in the last 3 years were included. Demographic features, symptoms at presentation, diagnoses, surgical procedures, and complications were recorded. Patients were then contacted for follow-up and evaluation of long-term outcomes. General physical conditions, anthropometric parameters, feeding habits, and defecation histories were evaluated...
April 18, 2017: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/28400547/anemia-in-thyroid-diseases
#9
Ewelina Szczepanek-Parulska, Aleksandra Hernik, Marek Ruchała
Anemia is a frequent, although often underestimated, clinical condition accompanying thyroid diseases. In spite of the fact that anemia and thyroid dysfunction often occur simultaneously, the causative relationship between these two disorders remains ambiguous. Thyroid hormones stimulate erythrocytes precursors proliferation directly, as well as via erythropoietin production enhancement, whereas iron-deficient anemia negatively influences thyroid hormonal status. Thus, different forms of anemia might emerge in the course of thyroid dysfunction...
March 28, 2017: Polish Archives of Internal Medicine
https://www.readbyqxmd.com/read/28375153/pcbp1-and-ncoa4-regulate-erythroid-iron-storage-and-heme-biosynthesis
#10
Moon-Suhn Ryu, Deliang Zhang, Olga Protchenko, Minoo Shakoury-Elizeh, Caroline C Philpott
Developing erythrocytes take up exceptionally large amounts of iron, which must be transferred to mitochondria for incorporation into heme. This massive iron flux must be precisely controlled to permit the coordinated synthesis of heme and hemoglobin while avoiding the toxic effects of chemically reactive iron. In cultured animal cells, iron chaperones poly rC-binding protein 1 (PCBP1) and PCBP2 deliver iron to ferritin, the sole cytosolic iron storage protein, and nuclear receptor coactivator 4 (NCOA4) mediates the autophagic turnover of ferritin...
May 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28367656/prevalence-of-anemia-and-hemoglobin-disorders-among-school-children-in-myanmar
#11
Saw Thu Wah, Yoon Shwe Yi, Aye Aye Khin, Chotiros Plabplueng, Pornlada Nuchnoi
The prevalence of anemia is high in the population of Myanmar and hypochromic microcytic anemia (HMA) is predominant. The objective of our study was to determine the prevalence of anemia and causes of HMA among school children. A cross-sectional study was conducted on 239 children from Thanlyin and Insein Townships, Yangon Region, Myanmar. Complete blood count (CBC) and blood film morphology was examined on venous blood samples. Hypochromic microcytic anemia cases were subsequently analyzed for serum ferritin and cellulose acetate hemoglobin (Hb) electrophoresis...
April 2, 2017: Hemoglobin
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
#12
Bahar Büyükkaragöz, 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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
LETTER
Rintaro Hashimoto, Tomoki Matsuda
No abstract text is available yet for this article.
May 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
#20
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
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