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Microcytic Anemia

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1. Glycogen storage disease type Ia: Adult presentation with microcytic anemia and liver adenomas Full Text available with Trip Pro

Glycogen storage disease type Ia: Adult presentation with microcytic anemia and liver adenomas 29486517 2019 01 31 2019 01 31 1527-3350 68 2 2018 08 Hepatology (Baltimore, Md.) Hepatology Glycogen storage disease type Ia: Adult presentation with microcytic anemia and liver adenomas. 780-782 10.1002/hep.29858 Moest Wouter W Department of Internal Medicine, Groene Hart Hospital, Gouda, The Netherlands. van der Deure Wendy W Department of Internal Medicine, Groene Hart Hospital, Gouda (...) . Derks Terry G J TGJ http://orcid.org/0000-0002-7259-1095 Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. eng Case Reports Journal Article 2018 04 27 United States Hepatology 8302946 0270-9139 Hepatorenal form of glycogen storage disease IM Adenoma, Liver Cell etiology Adult Anemia, Iron-Deficiency etiology Female Glycogen Storage Disease Type I complications diagnosis Humans Liver pathology Liver

2018 Hepatology (Baltimore, Md.)

2. Loss of Dynamin 2 GTPase function results in microcytic anaemia. Full Text available with Trip Pro

Loss of Dynamin 2 GTPase function results in microcytic anaemia. In a dominant mouse ethylnitrosurea mutagenesis screen for genes regulating erythropoiesis, we identified a pedigree with a novel microcytic hypochromia caused by a V235G missense mutation in Dynamin 2 (Dnm2). Mutations in Dnm2, a GTPase, are highly disease-specific and have been implicated in four forms of human diseases: centronuclear myopathy, Charcot-Marie Tooth neuropathy and, more recently, T-cell leukaemia and Hereditary (...) to impaired endosome formation. Despite these deficiencies, surprisingly all iron studies were unchanged, suggesting an unexplained alternative mechanism underlies microcytic anaemia in Dnm2+/V235G mice. This study provides the first in vivo evidence for the requirements of Dnm2 in normal erythropoiesis.© 2017 John Wiley & Sons Ltd.

2017 British journal of haematology

3. Microcytic Anemia

Microcytic Anemia Microcytic Anemia Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Microcytic Anemia Microcytic Anemia Aka (...) : Microcytic Anemia From Related Chapters II. Causes (most common) Decreased level Increased Decreased Normal iron studies Differentiated with electrophoresis Decreased , and Similar workup as with III. Labs See See (MCV) <80 See MCV cutoff varies by age and per reference Decreased in and ( ) Increased in Decreased in Near complete saturation in Less than 5% saturated in Level <15 ng/ml suggests is acute phase reactant and also elevated in chronic inflammation Use cutoff of <50 ng/ml to diagnose when

2018 FP Notebook

4. Characterization of Tfrc-mutant mice with microcytic phenotypes Full Text available with Trip Pro

of the transferrin receptor can cause a microcytic anemia that does not respond to iron therapy and would not be detected by routine iron studies, such as serum ferritin.© 2018 by The American Society of Hematology. (...) Characterization of Tfrc-mutant mice with microcytic phenotypes To identify novel regulators of erythropoiesis, we performed independent forward genetic screens using the chemical mutagen ENU in mice. Among progeny displaying microcytic red-cell phenotypes, 7 independent mouse strains harboring mutations within the transferrin receptor gene Tfrc were identified. Six of the mutants, including the previously described red blood cell 6 (RBC6) strain, displayed reduced erythroblast CD71 expression

2018 Blood advances

5. Mutating heme oxygenase-1 into a peroxidase causes a defect in bilirubin synthesis associated with microcytic anemia and severe hyperinflammation Full Text available with Trip Pro

Mutating heme oxygenase-1 into a peroxidase causes a defect in bilirubin synthesis associated with microcytic anemia and severe hyperinflammation 27662012 2018 02 12 2018 11 13 1592-8721 101 11 2016 11 Haematologica Haematologica Mutating heme oxygenase-1 into a peroxidase causes a defect in bilirubin synthesis associated with microcytic anemia and severe hyperinflammation. e436-e439 Greil Johann J Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Germany (...) Iron-Refractory Iron Deficiency Anemia IM Anemia, Iron-Deficiency etiology Bilirubin biosynthesis Heme Oxygenase-1 genetics Humans Infant Inflammation etiology Macrophages immunology Male Oxidative Stress Peroxidase genetics 2016 11 2 6 0 2018 2 13 6 0 2016 9 24 6 0 ppublish 27662012 haematol.2016.147090 10.3324/haematol.2016.147090 PMC5394876 Pediatr Blood Cancer. 2007 Feb;48(2):124-31 16937360 Immunol Rev. 2005 Feb;203:165-79 15661029 Hum Mutat. 2000 Aug;16(2):178-9 10923045 Blood. 2016 Jan

2016 Haematologica

6. Evaluation of Alpha-Thalassemia Mutations in Cases with Hypochromic Microcytic Anemia: The Ä°stanbul Perspective Full Text available with Trip Pro

Evaluation of Alpha-Thalassemia Mutations in Cases with Hypochromic Microcytic Anemia: The Ä°stanbul Perspective Alpha thalassemia syndromes are caused by mutations on one or more of the four α-globin genes. Mutations could be either more commonly deletional or non-deletional. As some deletions (3.7 and 4.2) cause α+-thalassemia, some cause (-20.5, MED, THAI, FIL) α0 -thalassemia. The aim of this study was to determine alpha thalassemia mutations in patients with unsolved hypochromic microcytic (...) anemia and to evaluate types of mutations.Two hundred six patients with hypochromic microcytic anemia were evaluated for alpha thalassemia. A venous blood sample of 2 mL was drawn from each patient for DNA isolation. The samples were investigated for α-thalassemia mutations by using the Vienna Lab α-Globlin StripAssay TM commercial kit.Fourteen different mutations were determined in 95 (46.1%) patients. The most common mutation was the 3.7 single gene deletion and was found in 37 patients (n=37/95

2015 Turkish Journal of Hematology

7. Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin. Full Text available with Trip Pro

Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin. Krüppel-like factor 1 (KLF1) regulates erythroid lineage commitment, globin switching, and the terminal maturation of red blood cells. Variants in human KLF1 have been identified as an important causative factor in a wide spectrum of phenotypes. This study investigated two unrelated male children in China who had refractory anemia associated with poikilocythemia (...) . These were accompanied by an upregulation of biochemical markers of hemolysis, along with abnormal hemoglobin (Hb) level and elevated reticulocyte counts. Next-generation sequencing revealed that the patients were compound heterozygotes for a KLF1 frameshift mutation c.525_526insCGGCGCC (p.(Gly176ArgfsTer179)) and one of two missense variants, c.892 G>C (p.(Ala298Pro)) and c.1012C>T (p.(Pro338Ser)). The subjects had microcytic hypochromic anemia, and their healthy parents had single mutation. The two

2015 European Journal of Human Genetics

8. Abnormal erythroid maturation leads to microcytic anemia in the TSAP6/Steap3 null mouse model. Full Text available with Trip Pro

Abnormal erythroid maturation leads to microcytic anemia in the TSAP6/Steap3 null mouse model. Genetic ablation of the ferrireductase STEAP3, also known as TSAP6, leads to severe microcytic and hypochromic red cells with moderate anemia in the mouse. However, the mechanism leading to anemia is poorly understood. Previous results indicate that TSAP6/Steap3 is a regulator of exosome secretion. Using TSAP6/Steap3 knockout mice, we first undertook a comprehensive hematologic characterization (...) stability. Furthermore, there were no differences in red cell survival between wild type and knockout animals. However, when we monitored erythropoiesis, we found a decreased number of proerythroblasts in the bone marrow of TSAP6/Steap3(-/-) animals. In addition, progression from the proerythroblastic to the orthochromatic stage was affected, with accumulation of cells at the polychromatic stage. Altogether, our findings demonstrate that abnormal erythroid maturation is the main cause of anemia

2015 American journal of hematology

9. Assessment of anaemia

Assessment of anaemia Assessment of anaemia - Differential diagnosis of symptoms | BMJ Best Practice   Search  Assessment of anaemia Last reviewed: February 2019 Last updated: March 2019 Summary Anaemia is defined as a haemoglobin (Hb) level <120 g/L (<12 g/dL) in females and <140 g/L (<14 g/dL) in males or, alternatively, as an Hb level <125g/L (<12.5 g/dL) in adults. Report of WHO/UNICEF/UNU consultation on indicators and strategies for iron deficiency and anemia programmes. In: WHO/UNICEF (...) . Anemia. In: Taylor RB, ed. Family medicine: principles and practice. 4th ed. New York, NY: Springer-Verlag; 1994:997-1005. Anaemia can cause significant morbidity if left untreated, and is often the presenting sign of a more serious underlying condition. Thein M, Ershler WB, Artz AS, et al. Diminished quality of life and physical function in community-dwelling elderly with anemia. Medicine (Baltimore). 2009;88:107-14. http://www.ncbi.nlm.nih.gov/pubmed/19282701?tool=bestpractice.com The rate at which

2018 BMJ Best Practice

10. Anaemia of chronic disease

infections, autoimmune disorders, after major trauma and surgery, and in critical illness. Physical examination findings are those of the underlying disorder. Therapeutic approach is primarily treatment of the underlying disorder, though treatment of the anaemia itself is sometimes appropriate. Definition Anaemia of chronic disease (ACD) is a common syndrome in which the anaemia is due to an inflammation-mediated reduction in red blood cell (RBC) production and sometimes in RBC survival. Roy CN. Anemia (...) of inflammation. Hematology Am Soc Hematol Educ Program. 2010;2010:276-80. http://asheducationbook.hematologylibrary.org/cgi/content/full/2010/1/276 http://www.ncbi.nlm.nih.gov/pubmed/21239806?tool=bestpractice.com Laboratory studies, which collectively identify the syndrome, typically show normocytic normochromic or microcytic hypochromic anaemia, relatively low absolute reticulocyte count, low serum iron, low total iron-binding capacity, low to normal percent transferrin saturation, and elevated ferritin

2018 BMJ Best Practice

11. Iron deficiency anaemia

Iron deficiency anaemia Iron deficiency anaemia - Symptoms, diagnosis and treatment | BMJ Best Practice You'll need a subscription to access all of BMJ Best Practice Search  Iron deficiency anaemia Last reviewed: February 2019 Last updated: March 2018 Summary Clinical history, presentation, and findings include fatigue, pallor, dyspnoea on exertion, and pica. Microcytic, hypochromic anaemia; low reticulocyte count. Characteristics include low serum iron, increased total iron-binding capacity (...) (TIBC), less than 16% transferrin saturation, and low serum ferritin. The diagnosis of iron deficiency anaemia necessitates investigation of the underlying cause. Initial treatment includes oral iron. Definition The WHO defines anaemia as haemoglobin <130 g/L (13 g/dL) in men older than age 15 years, <120 g/L (12 g/dL) in non-pregnant women older than age 15 years, and <110 g/L (11 g/dL) in pregnant women. Goddard AF, James MW, McIntyre AS, et al. Guidelines for the management of iron deficiency

2018 BMJ Best Practice

12. Assessment of anaemia

Assessment of anaemia Assessment of anaemia - Differential diagnosis of symptoms | BMJ Best Practice   Search  Assessment of anaemia Last reviewed: February 2019 Last updated: March 2019 Summary Anaemia is defined as a haemoglobin (Hb) level <120 g/L (<12 g/dL) in females and <140 g/L (<14 g/dL) in males or, alternatively, as an Hb level <125g/L (<12.5 g/dL) in adults. Report of WHO/UNICEF/UNU consultation on indicators and strategies for iron deficiency and anemia programmes. In: WHO/UNICEF (...) . Anemia. In: Taylor RB, ed. Family medicine: principles and practice. 4th ed. New York, NY: Springer-Verlag; 1994:997-1005. Anaemia can cause significant morbidity if left untreated, and is often the presenting sign of a more serious underlying condition. Thein M, Ershler WB, Artz AS, et al. Diminished quality of life and physical function in community-dwelling elderly with anemia. Medicine (Baltimore). 2009;88:107-14. http://www.ncbi.nlm.nih.gov/pubmed/19282701?tool=bestpractice.com The rate at which

2018 BMJ Best Practice

13. Iron Deficiency and Anaemia in Adults

. In situations where there is anticipated blood loss, intraoperative cell salvage can be used to return salvaged red blood cells back to the patient (Thakrar et al., 2017). Post-operative care Following major surgery, up to 90% of patients may become anaemic and recent changes to transfusion thresholds have resulted in more patients being discharged with anaemia. Simple interventions, such as reducing the number and volume of blood samples and avoiding the use of postoperative drains, can have a significant (...) impact on preventing anaemia. Maintaining adequate oxygen levels in patients who become anaemic can help the body to recover and tolerate the anaemia. Diagnosis and treatment of anaemia The measurement of both haemoglobin and ferritin levels prior to surgery can be used to diagnose anaemia and iron deficiency, respectively. The WHO define anaemia as haemoglobin <130 g/l in men and <120 g/l in women, although some guidelines recommend that the <130 g/l cut off should be applied to both men and women

2018 Royal College of Nursing

14. Microcytic Anemia

Microcytic Anemia Rotation Prep | NEJM Resident 360 Social Login Email Login Log in via Email Create Your Account We will not share your email with anyone. Password must be at least 8 characters. Show or Hide the password you are typing. Request to Join has invited you to join this group Your browser does not support video tags Welcome! NEJM Resident 360 helps you prepare for your next rotation quickly and efficiently, provides support for coping with the pressures of resident life, and equips

2014 Now@NEJM

15. Under nutrition, maternal anemia and household food insecurity are risk factors of anemia among preschool aged children in Menz Gera Midir district, Eastern Amhara, Ethiopia: a community based cross-sectional study. Full Text available with Trip Pro

% were microcytic hypochromic, normocytic normochromic and macrocytic anemias, respectively. Child age 6-11 months (COR: 5.67, 95% CI: 2.2, 14.86), child age 12-23 months (COR: 5.8, 95% CI: 2.3, 14.7), wasting (COR: 3.5, 95% CI: 1.2, 9.8), stunting (COR: 3.8, 95% CI: 1.92, 7.77), underweight (COR: 2.12, 95% CI: 1.07, 4.38), MUAC measurement below 13 cm (COR: 5.6, 95% CI: 2.83, 11.15), household headed by female (COR: 3.24, 95% CI: 1.1, 9.63), maternal anemia (COR: 4, 95% CI: 2.2, 7.23) and household (...) Under nutrition, maternal anemia and household food insecurity are risk factors of anemia among preschool aged children in Menz Gera Midir district, Eastern Amhara, Ethiopia: a community based cross-sectional study. In Ethiopian, the prevalence of anemia among preschool aged children widely varied across regions. Since anemia adversely affects the cognitive and physical development of the children, it is important to determine its burden for implementing appropriate measurements. Therefore

2019 BMC Public Health

16. Sixteen years post radiotherapy of nasopharyngeal carcinoma elicited multi-dysfunction along PTX and chronic kidney disease with microcytic anemia. Full Text available with Trip Pro

Sixteen years post radiotherapy of nasopharyngeal carcinoma elicited multi-dysfunction along PTX and chronic kidney disease with microcytic anemia. The hypothalamic-pituitary (h-p) unit is a particularly radiosensitive region in the central nervous system. As a consequence, radiation-induced irreversible, progressively chronic onset hypopituitarism (RIH) commonly develops after radiation treatments and can result in variably impaired pituitary function, which is frequently associated (...) elevated RDW (18.2%), together with severely lowered ferritin (23.6 ng/mL) and serum iron levels; highly elevated total iron binding capacity (TIBC, 509 g/dL) and transferrin (363.4 mg/dL), suggesting microcytic anemia. Severely reduced estimated glomerular filtration rate (e-GFR) (89 mL/mim/1.73 m2) pointed to CKD2. Hypocortisolemia with hyponatremia indicated secondary adrenal insufficiency. Replacement therapy using androgen, cortisol, and Ringer's solution has shown beneficial in improving life

2014 BMC Urology

17. Practice guidelines for the diagnosis and management of microcytic anemias due to genetic disorders of iron metabolism or heme synthesis. Full Text available with Trip Pro

Practice guidelines for the diagnosis and management of microcytic anemias due to genetic disorders of iron metabolism or heme synthesis. During recent years, our understanding of the pathogenesis of inherited microcytic anemias has gained from the identification of several genes and proteins involved in systemic and cellular iron metabolism and heme syntheses. Numerous case reports illustrate that the implementation of these novel molecular discoveries in clinical practice has increased our (...) understanding of the presentation, diagnosis, and management of these diseases. Integration of these insights into daily clinical practice will reduce delays in establishing a proper diagnosis, invasive and/or costly diagnostic tests, and unnecessary or even detrimental treatments. To assist the clinician, we developed evidence-based multidisciplinary guidelines on the management of rare microcytic anemias due to genetic disorders of iron metabolism and heme synthesis. These genetic disorders may present

2014 Blood

18. CRACKCAST E121 – Anemia, Polycythemia, and White Blood Cell Disorders

unexplained Hb <80 or hematocrit <30% Difficulty obtaining outpatient care when Hb significantly low or major comorbidity [4] Classify the anemias according to MCV Refer to box 112.5 for classification of anemias according to MCV Microcytic (low MCV, hypochromic) T halassemia A nemia of chronic disease I ron deficiency L ead poisoning S ideroblastic anemia Normocytic (normal MCV) Primary bone marrow problem: aplastic anemia, myeloid metaplasia with myelofibrosis, myelophthisic anemia Secondary (...) CRACKCAST E121 – Anemia, Polycythemia, and White Blood Cell Disorders CRACKCAST E121 - Anemia, Polycythemia, and White Blood Cell Disorders - CanadiEM CRACKCAST E121 – Anemia, Polycythemia, and White Blood Cell Disorders In , by Nathan Stefani October 26, 2017 This 121st episode of CRACKCast covers Rosen’s 9th edition, Chapter 112 and 113, Anemia, Polycythemia, and White Blood Cell Disorders. These blood disorders are numerous and this episode attempts to break their classification and approach

2017 CandiEM

19. Microcytemia, constitutional microcytic anemia, and Cooley's anemia Full Text available with Trip Pro

Microcytemia, constitutional microcytic anemia, and Cooley's anemia 17948386 2007 10 24 2018 11 13 0002-9297 1 1 1949 Sep American journal of human genetics Am. J. Hum. Genet. Microcytemia, constitutional microcytic anemia, and Cooley's anemia. 83-93 Silvestroni E E Bianco I I eng Journal Article United States Am J Hum Genet 0370475 0002-9297 1949 9 1 0 0 1949 9 1 0 1 1949 9 1 0 0 ppublish 17948386 PMC1716279 Genetics. 1947 Jan;32(1):38-63 17247229

1949 American Journal of Human Genetics

20. Part XI.—The effect of iron deficient diets on the size of the red blood cells in rats and in the production of microcytic hypochromic anaemia in their offspring; a contribution to the study of congenital iron-deficiency anaemia in the human infant Full Text available with Trip Pro

Part XI.—The effect of iron deficient diets on the size of the red blood cells in rats and in the production of microcytic hypochromic anaemia in their offspring; a contribution to the study of congenital iron-deficiency anaemia in the human infant 21032086 2011 03 30 2011 03 30 0003-9888 12 72 1937 Dec Archives of disease in childhood Arch. Dis. Child. Part XI.-The effect of iron deficient diets on the size of the red blood cells in rats and in the production of microcytic hypochromic (...) anaemia in their offspring; a contribution to the study of congenital iron-deficiency anaemia in the human infant. 369-80 Parsons L G LG Hickmans E M EM Finch E E eng Journal Article England Arch Dis Child 0372434 0003-9888 2010 10 30 6 0 1937 12 1 0 0 1937 12 1 0 1 ppublish 21032086 PMC1975547

1937 Archives of Disease in Childhood

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