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Microcytic Anemia

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1. Glycogen storage disease type Ia: Adult presentation with microcytic anemia and liver adenomas (PubMed)

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

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2018 Hepatology (Baltimore, Md.)

2. 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

3. Mutating heme oxygenase-1 into a peroxidase causes a defect in bilirubin synthesis associated with microcytic anemia and severe hyperinflammation (PubMed)

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

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2016 Haematologica

4. 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

5. Characterization of Tfrc-mutant mice with microcytic phenotypes (PubMed)

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

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2018 Blood advances

6. Evaluation of Alpha-Thalassemia Mutations in Cases with Hypochromic Microcytic Anemia: The Ä°stanbul Perspective (PubMed)

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

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2015 Turkish Journal of Hematology

7. Discriminant indices for distinguishing thalassemia and iron deficiency in patients with microcytic anemia: a meta-analysis. (PubMed)

Discriminant indices for distinguishing thalassemia and iron deficiency in patients with microcytic anemia: a meta-analysis. More than 40 mathematical indices have been proposed in the hematological literature for discriminating between iron deficiency anemia and thalassemia trait in subjects with microcytic red blood cells (RBCs). None of these discriminant indices is 100% sensitive and specific and also the ranking of the discriminant indices is not consistent. Therefore, we decided (...) to conduct the first meta-analysis of the most frequently used discriminant indices.An extensive literature search yielded 99 articles dealing with 12 indices that were investigated five or more times. For each discriminant index we calculated the diagnostic odds ratio (DOR) and summary ROC analysis was done for comparing the performance of the indices.The ratio of microcytic to hypochromic RBCs (M/H ratio) showed the best performance, DOR=100.8. This was significantly higher than that of all other

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2015 Clinical chemistry and laboratory medicine : CCLM / FESCC

8. Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin. (PubMed)

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

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2015 European Journal of Human Genetics

9. Abnormal erythroid maturation leads to microcytic anemia in the TSAP6/Steap3 null mouse model. (PubMed)

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

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2015 American journal of hematology

10. Sixteen years post radiotherapy of nasopharyngeal carcinoma elicited multi-dysfunction along PTX and chronic kidney disease with microcytic anemia. (PubMed)

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

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2014 BMC Urology

11. Practice guidelines for the diagnosis and management of microcytic anemias due to genetic disorders of iron metabolism or heme synthesis. (PubMed)

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

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2014 Blood

12. 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. (PubMed)

% 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

13. 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

14. Iron-Refractory Microcytic Anemia as the Presenting Feature of Unicentric Castleman Disease in Children. (PubMed)

Iron-Refractory Microcytic Anemia as the Presenting Feature of Unicentric Castleman Disease in Children. Chronic, iron-refractory, microcytic anemia can be a diagnostic and therapeutic challenge. We report the cases of 2 children with occult, unicentric Castleman disease whose primary presenting feature was a chronic, unexplained, iron-refractory, microcytic anemia. Diagnosis was delayed because neither child had palpable lymphadenopathy and the lymphoproliferation was intra-abdominal. Surgical (...) resection cured the anemia and the Castleman disease. A diagnostic clue to Castleman disease is an elevated concentration of interleukin-6 in blood, which causes anemia by inducing the expression of the iron-regulatory hormone hepcidin. Copyright © 2014 Mosby, Inc. All rights reserved.

2013 Journal of Pediatrics

15. 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 (PubMed)

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 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. After exclusion of gastrointestinal etiologies, IRIDA diagnosis was suspected and a novel mutation in the TMPRSS6 gene was identified. It was found in intron 11 (c.1396+4 A>T) and seems to affect the gene expression. In addition, 3

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2017 Journal of investigative medicine high impact case reports

16. Infused wild-type macrophages reside and self-renew in the liver to rescue the hemolysis and anemia of Hmox1-deficient mice (PubMed)

into Hmox1 KO mice. Results showed that WT macrophages engrafted and proliferated in the livers of Hmox1 KO mice, which corrected the microcytic anemia, rescued the intravascular hemolysis, restored iron homeostasis, eliminated kidney iron overload and tissue damage, and provided long-term protection. These results showed that a single macrophage infusion delivered a long-term curative effect in Hmox1 KO mice, obviating the need for BM transplantation, and suggested that the HMOX1 disease stems mainly (...) Infused wild-type macrophages reside and self-renew in the liver to rescue the hemolysis and anemia of Hmox1-deficient mice Heme oxygenase 1 (HMOX1), the inducible enzyme that catabolizes the degradation of heme into biliverdin, iron, and carbon monoxide, plays an essential role in the clearance of senescent and damaged red blood cells, systemic iron homeostasis, erythropoiesis, vascular hemostasis, and oxidative and inflammatory stress responses. In humans, HMOX1 deficiency causes a rare

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2018 Blood advances

17. Microcytemia, constitutional microcytic anemia, and Cooley's anemia (PubMed)

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

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1949 American Journal of Human Genetics

18. 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

2015 FP Notebook

19. Classification of Anemias

-normal TIBC & transferrin saturation, only ~25% microcytic , Hemoglobinopathy, Lead Overload , Thalassemia normal TIBC, normal to ? serum iron & transferrin saturation major high RDW & minor normal RDW ; Sideroblastic anemia ? RDW MCV 80-100 fL Normocytic anemia Consider loss of blood, Reticulocyte count Blood loss, Hemolysis ? No blood loss ? Treat cause GI or menstrual bleed (Use of ASA/NSAIDs, warfarin etc.), high reticulocyte Anemia of chronic dx normal- ? RDW, low serum iron, low-normal TIBC (...) -2010). JAMA Intern Med. 2014 Mar 3. 94. Coritsidis GN, Maglinte GA, Acharya A, et al. Anemia Management Trends in Hospital-Based Dialysis Centers(HBDCs), 2010 to 2013. Clin Ther. 2014 Feb 27. 95. Sherwood MW, Wang Y, Curtis JP, Peterson ED, Rao SV. Patterns and outcomes of red blood cell transfusion in patients undergoing percutaneous coronary intervention. JAMA 2014; 311: 836-843. 96. DeLoughery TG. Microcytic anemia. N Engl J Med. 2014 Oct 2;371(14):1324-31. 97. Carson JL, Sieber F, Cook DR, et

2014 RxFiles

20. Hereditary Hypochromic Microcytic Anemia in the Laboratory Rat (PubMed)

Hereditary Hypochromic Microcytic Anemia in the Laboratory Rat 5958911 1967 04 13 2018 11 13 0016-6731 53 6 1966 Jun Genetics Genetics Hereditary hypochromic microcytic anemia in the laboratory rat. 1079-89 Sladic-Simic D D Zivkovic N N Pavic D D Marinkovic D D Martinovic J J Martinovitch P N PN eng Journal Article United States Genetics 0374636 0016-6731 E1UOL152H7 Iron IM Anemia, Hypochromic drug therapy genetics Animals Erythrocytes Female Iron therapeutic use Male Mutation radiation effects

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1966 Genetics

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