Microcytic Hypochromic Anemia Patients with Thalassemia: Genotyping Approach
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only use Non-commercial 14th International Conference on Thalassaemia and Other Haemoglobinopathies 16th TIF Conference for Patients and Parents 17-19 November 2017 • Grand Hotel Palace, Thessaloniki, Greece only use For thalassemia patients with chronic transfusional iron overload... Make a lasting impression with EXJADENon-commercial film-coated tablets The efficacy of deferasirox in a convenient once-daily film-coated tablet Please see your local Novartis representative for Full Product Information Reference: EXJADE® film-coated tablets [EU Summary of Product Characteristics]. Novartis; August 2017. Important note: Before prescribing, consult full prescribing information. iron after having achieved a satisfactory body iron level and therefore retreatment cannot be recommended. ♦ Maximum daily dose is 14 mg/kg body weight. ♦ In pediatric patients the Presentation: Dispersible tablets containing 125 mg, 250 mg or 500 mg of deferasirox. dosing should not exceed 7 mg/kg; closer monitoring of LIC and serum ferritin is essential Film-coated tablets containing 90 mg, 180 mg or 360 mg of deferasirox. to avoid overchelation; in addition to monthly serum ferritin assessments, LIC should be Indications: For the treatment of chronic iron overload due to frequent blood transfusions monitored every 3 months when serum ferritin is ≤800 micrograms/l. (≥7 ml/kg/month of packed red blood cells) in patients with beta-thalassemia major aged Dosage: Special population ♦ In moderate hepatic impairment (Child-Pugh B) dose should 6 years and older. ♦ Also indicated for the treatment of chronic iron overload due to blood not exceed 50% of the normal dose. Should not be used in severe hepatic impairment transfusions when deferoxamine therapy is contraindicated or inadequate in the following (Child-Pugh C). -
Kawasaki Disease with Glucose-6-Phosphate Dehydrogenase Deficiency, Case Report
Saudi Pharmaceutical Journal (2014) xxx, xxx–xxx King Saud University Saudi Pharmaceutical Journal www.ksu.edu.sa www.sciencedirect.com CASE REPORT Kawasaki disease with Glucose-6-Phosphate Dehydrogenase deficiency, case report Hesham Radi Obeidat a,*, Sahar Al-Dossary b, Abdulsalam Asseri a a Pharmacy Department, Saad Specialist Hospital, Alkhobar 31952, Saudi Arabia b Pediatric and Neonatology Department, Saad Specialist Hospital, Alkhobar 31952, Saudi Arabia Received 28 August 2014; accepted 11 November 2014 KEYWORDS Abstract Kawasaki disease (KD) is an acute, self-limited vasculitis of unknown etiology that Kawasaki disease; occurs predominantly in infants and children younger than 5 years of age. Coronary artery abnor- G6PD; malities are the most serious complication. Aspirin Based on the literatures infusion of Intravenous Immunoglobulin of 2 g/kg and a high dose of oral aspirin up to 100 mg/kg/day are the standard treatment for Kawasaki disease in the acute stage, and should be followed by antiplatelet dose of aspirin for thrombocytosis. Glucose-6-Phos- phate Dehydrogenase (G6PD) deficiency is an inherited X-linked hereditary disorder, and aspirin can induce hemolysis in patients with G6PD deficiency. We report a case of a 5 year and 8 month old male with KD and G6PD deficiency. ª 2014 The Authors. Production and hosting by Elsevier B.V. on behalf of King Saud University. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/3.0/). 1. Introduction genetic predisposition or infectious agents are likely to be the cause. Kawasaki disease was first described in 1967 by Tomisaku Recently, guidelines were published by the American Heart Kawasaki and has replaced acute rheumatic fever as the lead- Association (AHA) to aid in the diagnosis and management of ing cause of acquired heart disease among children in devel- Kawasaki disease. -
Newborn Screening Result for Bart's Hemoglobin
NEWBORN SCREENING RESULT FOR BART’S HEMOGLOBIN Physician’s information sheet developed by the Nebraska Newborn Screening Program with review by James Harper, MD, Pediatric Hematologist with UNMC Follow-up program, and member of the Nebraska Newborn Screening Advisory Committee. BACKGROUND The alpha thalassemias result from the loss of alpha globin genes. There are normally four genes for alpha globin production so that the loss of one to four genes is possible. The lack of one gene causes alpha thalassemia 2 (silent carrier) with no clinically detectable problems but may cause small amounts of hemoglobin Barts to be present in newborn blood samples. Alpha thalassemia trait (Alpha thalassemia 1) results from loss of two genes and causes a mild microcytic anemia which may resemble iron deficiency anemia. The loss of three genes causes hemoglobin H diseases which is a moderately severe form of thalassemia. The lack of all four genes causes hydrops fetalis and is usually fatal in utero. In general, only the loss of one or two genes is seen in African Americans. Individuals from Southeast Asia and the Mediterranean may have all four types of alpha thalassemia. The percentage of hemoglobin Barts in the blood sample may indicate the number of alpha genes that have been lost. However, the percentage of hemoglobin Barts is not directly measurable with the current methodology used by the newborn screening laboratory. Only the presence of Barts hemoglobin in relation to fetal and adult hemoglobin, and variants S, C, D and E can be detected. RECOMMENDED WORK UP In addition to the standard newborn hemoglobinopathy confirmation (hemoglobin electrophoresis), to separate those patients with alpha thalassemia silent carrier from the patients with alpha thalassemia trait, we recommend that these babies have the following labs drawn at their 6 month well baby check: CBC with retic count, ferritin, and a hemoglobin electropheresis. -
Hemolytic Anemia Caused by Hereditary Pyruvate Kinase Deficiency in a West Highland White Terrier Dog
Arch Med Vet 44, 195-200 (2012) COMMUNICATION Hemolytic anemia caused by hereditary pyruvate kinase deficiency in a West Highland White Terrier dog Anemia hemolítica causada por la deficiencia de piruvato quinasa hereditaria en un perro West Highland White Terrier NRC Hlavaca, LA Lacerdaa*, FO Conradob, PS Hünninga, M Seibertc, FHD Gonzálezd, U Gigere aPostgraduate Program in Veterinary Sciences, Universidade Federal Rio Grande do Sul, Porto Alegre, RS, Brasil. bVeterinary Clinic Pathology, Universidade Federal Rio Grande do Sul, Porto Alegre, RS, Brasil. cClinic Pathology, PetLab Ltda, Porto Alegre, Brasil. dDepartment of Veterinary Clinic Pathology, Faculty of Veterinary, Universidade Federal Rio Grande do Sul, Porto Alegre, RS, Brasil. eLaboratory of Genetic Diseases, University of Pennsilvania, Philadelphia, United States. RESUMEN La deficiencia de piruvato quinasa (PK) es un desorden hemolítico autosómico recesivo descrito en perros y gatos. La piruvato quinasa es una de las enzimas regulatorias esenciales de la glicólisis anaeróbica, la deficiencia de esta enzima causa una destrucción prematura de los eritrocitos. El presente es un estudio de caso y relata los hallazgos clínicos y paraclínicos en un perro brasileño de la raza West Highland White Terrier (WHWT) con historia de debilidad e intolerancia al ejercicio. El paciente presentaba mucosas pálidas, anemia hemolítica bastante regenerativa y osteoclerosis. La deficiencia de PK fue confirmada a través de una prueba de ADN raza específica para la inserción 6bp en el extremo 3’ del exón 10 de la secuencia del gen de la piruvato quinasa eritrocitaria (R-PK) como fue descrito. Al perro se le practicó eutanasia a los 20 meses de edad debido al deterioro de su estado clínico, el cual incluyó anemia e incompatibilidad sanguínea. -
Acoi Board Review 2019 Text
CHERYL KOVALSKI, DO FACOI NO DISCLOSURES ACOI BOARD REVIEW 2019 TEXT ANEMIA ‣ Hemoglobin <13 grams or ‣ Hematocrit<39% TEXT ANEMIA MCV RETICULOCYTE COUNT Corrected retic ct = hematocrit/45 x retic % (45 considered normal hematocrit) >2%: blood loss or hemolysis <2%: hypoproliferative process TEXT ANEMIA ‣ MICROCYTIC ‣ Obtain and interpret iron studies ‣ Serum iron ‣ Total iron binding capacity (TIBC) ‣ Transferrin saturation ‣ Ferritin-correlates with total iron stores ‣ can be normal or increased if co-existent inflammation TEXT IRON DEFICIENCY ‣ Most common nutritional problem in the world ‣ Absorbed in small bowel, enhanced by gastric acid ‣ Absorption inhibited by inflammation, phytates (bran) & tannins (tea) TEXT CAUSES OF IRON DEFICIENCY ‣ Blood loss – most common etiology ‣ Decreased intake ‣ Increased utilization-EPO therapy, chronic hemolysis ‣ Malabsorption – gastrectomy, sprue ‣ ‣ ‣ TEXT CLINICAL MANIFESTATIONS OF IRON DEFICIENCY ‣ Impaired psychomotor development ‣ Fatigue, Irritability ‣ PICA ‣ Koilonychiae, Glossitis, Angular stomatitis ‣ Dysphagia TEXT IRON DEFICIENCY LAB FINDINGS ‣ Low serum iron, increased TIBC ‣ % sat <20 TEXT MANAGEMENT OF IRON DEFICIENCY ‣ MUST LOOK FOR SOURCE OF BLEED: ie: GI, GU, Regular blood donor ‣ Replacement: 1. Oral: Ferrous sulfate 325 mg TID until serum iron, % sat, and ferritin mid-range normal, 6-12 months 2. IV TEXT SIDEROBLASTIC ANEMIAS Diverse group of disorders of RBC production characterized by: 1. Defect involving incorporation of iron into heme molecule 2. Ringed sideroblasts in -
Approach to Anemia
APPROACH TO ANEMIA Mahsa Mohebtash, MD Medstar Union Memorial Hospital Definition of Anemia • Reduced red blood mass • RBC measurements: RBC mass, Hgb, Hct or RBC count • Hgb, Hct and RBC count typically decrease in parallel except in severe microcytosis (like thalassemia) Normal Range of Hgb/Hct • NL range: many different values: • 2 SD below mean: < Hgb13.5 or Hct 41 in men and Hgb 12 or Hct of 36 in women • WHO: Hgb: <13 in men, <12 in women • Revised WHO/NCI: Hgb <14 in men, <12 in women • Scrpps-Kaiser based on race and age: based on 5th percentiles of the population in question • African-Americans: Hgb 0.5-1 lower than Caucasians Approach to Anemia • Setting: • Acute vs chronic • Isolated vs combined with leukopenia/thrombocytopenia • Pathophysiologic approach • Morphologic approach Reticulocytes • Reticulocytes life span: 3 days in bone marrow and 1 day in peripheral blood • Mature RBC life span: 110-120 days • 1% of RBCs are removed from circulation each day • Reticulocyte production index (RPI): Reticulocytes (percent) x (HCT ÷ 45) x (1 ÷ RMT): • <2 low Pathophysiologic approach • Decreased RBC production • Reduced effective production of red cells: low retic production index • Destruction of red cell precursors in marrow (ineffective erythropoiesis) • Increased RBC destruction • Blood loss Reduced RBC precursors • Low retic production index • Lack of nutrients (B12, Fe) • Bone marrow disorder => reduced RBC precursors (aplastic anemia, pure RBC aplasia, marrow infiltration) • Bone marrow suppression (drugs, chemotherapy, radiation) -
Laboratory Approach to Anemia Laboratory Approach to Anemia
DOI: 10.5772/intechopen.70359 Provisional chapter Chapter 12 Laboratory Approach to Anemia Laboratory Approach to Anemia Ebru Dündar Yenilmez and Abdullah Tuli Ebru Dündar Yenilmez and Abdullah Tuli Additional information is available at the end of the chapter Additional information is available at the end of the chapter http://dx.doi.org/10.5772/intechopen.70359 Abstract Anemia is a major cause of morbidity and mortality worldwide and can be defined as a decreased quantity of circulating red blood cells (RBCs). The epidemiological studies suggested that one-third of the world’s population is affected with anemia. Anemia is not a disease, but it is instead the sign of an underlying basic pathological process. However, the sign may function as a compass in the search for the cause. Therefore, the prediag- nosis revealed by thorough investigation of this sign should be supported by laboratory parameters according to the underlying pathological process. We expect that this review will provide guidance to clinicians with findings and laboratory tests that can be followed from the initial stage in the anemia search. Keywords: anemia, complete blood count, red blood cell indices, reticulocyte 1. Introduction Anemia, the meaning of which in Greek is “without blood,” is a relatively common sign and symptom of various medical conditions. Anemia is defined as a significant decrease in the count of total erythrocyte [red blood cell (RBC)] mass, although this definition is rarely used in clinical settings. According to the World Health Organization, anemia is a condition in which the number of red blood cells (RBCs, and consequently their oxygen-carrying capacity) is insufficient to meet the body’s physiologic needs [1, 2]. -
Clinical Evaluation of Different Types of Anemia 1Richa Saxena, 2Sudha Chamoli, 3Monisha Batra
WJOA Richa Saxena et al 10.5005/jp-journals-10065-0024 REVIEW ARTICLE Clinical Evaluation of Different Types of Anemia 1Richa Saxena, 2Sudha Chamoli, 3Monisha Batra World Health Organization criteria for anemia ABSTRACT Table 1: Venous blood (gm/dL) MCHC Anemia, defined as a hemoglobin level two standard devia- Adult males 13 34 tions below the mean for age, is prevalent among infants and children as well as adults worldwide. The evaluation Adult females, nonpregnant 12 34 of an individual with anemia should begin with a thorough Adult females, pregnant 11 34 history and risk assessment. Characterizing the anemia as Children (6 months–6 years) 11 34 microcytic, normocytic, or macrocytic based on the mean Children (6–14 years) 12 34 corpuscular volume (MCV) will aid in the work-up and man- agement. Microcytic anemia due to iron deficiency is the most common type of anemia in children. Iron deficiency CLASSIFICATION OF ANEMIA anemia, which can be associated with cognitive issues, is prevented and treated with iron supplements or increased The classification of anemia based on two factors (Table 2): intake of dietary iron. This review article discusses the clinical 1. Red cell morphology evaluation of different types of anemias based on the find- 2. Etiology of anemia ings of clinical examination (i.e., pallor, pedal edema, nail changes, and epithelial changes) as well as the results of Anemia Classification Based on Morphology various investigations such as routine blood investigations (hemoglobin, mean cell hemoglobin concentration [MCHC], Anemia can be classified based on morphology as: packed cell volume, etc.), peripheral smear examination, • Normocytic normochromic (MCV 76–96 fL, MCHC bone marrow examination, etc. -
Iron Deficiency and the Anemia of Chronic Disease
Thomas G. DeLoughery, MD MACP FAWM Professor of Medicine, Pathology, and Pediatrics Oregon Health Sciences University Portland, Oregon [email protected] IRON DEFICIENCY AND THE ANEMIA OF CHRONIC DISEASE SIGNIFICANCE Lack of iron and the anemia of chronic disease are the most common causes of anemia in the world. The majority of pre-menopausal women will have some element of iron deficiency. The first clue to many GI cancers and other diseases is iron loss. Finally, iron deficiency is one of the most treatable medical disorders of the elderly. IRON METABOLISM It is crucial to understand normal iron metabolism to understand iron deficiency and the anemia of chronic disease. Iron in food is largely in ferric form (Fe+++ ) which is reduced by stomach acid to the ferrous form (Fe++). In the jejunum two receptors on the mucosal cells absorb iron. The one for heme-iron (heme iron receptor) is very avid for heme-bound iron (absorbs 30-40%). The other receptor - divalent metal transporter (DMT1) - takes up inorganic iron but is less efficient (1-10%). Iron is exported from the enterocyte via ferroportin and is then delivered to the transferrin receptor (TfR) and then to plasma transferrin. Transferrin is the main transport molecule for iron. Transferrin can deliver iron to the marrow for the use in RBC production or to the liver for storage in ferritin. Transferrin binds to the TfR on the cell and iron is delivered either for use in hemoglobin synthesis or storage. Iron that is contained in hemoglobin in senescent red cells is recycled by binding to ferritin in the macrophage and is transferred to transferrin for recycling. -
G6PD LEVEL DEFICIENCY in MALRIA Sarfraz Mash1, Muhammad Afzal2, Ms
IAJPS 2019, 06 (08), 15436-15440 Sarfraz Mash et al ISSN 2349-7750 CODEN [USA]: IAJPBB ISSN: 2349-7750 INDO AMERICAN JOURNAL OF PHARMACEUTICAL SCIENCES http://doi.org/10.5281/zenodo.3380512 Available online at: http://www.iajps.com Research Article G6PD LEVEL DEFICIENCY IN MALRIA Sarfraz Mash1, Muhammad Afzal2, Ms. Hajra Sarwar3 1 Post RN (BSN) 2nd semester student Sarfraz Mash, Lahore school of Nursing, 2 Head of Department of Lahore School of Nursing, 3 (MSN) Lahore school of Nursing. Article Received: June 2019 Accepted: July 2019 Published: August 2019 Abstract: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary enzyme disorder and morethan 200 million people have a deficiency of this enzyme. G6PD deficiency is an X-linked enzyme defect, and one of its main signs is the presence of hemolytic anemia. It is a worldwide important cause of neonatal jaundice and causes life threatening hemolytic crisis in childhood. At later ages, certain drugs such as anti-malarial drugs and fava beans cause hemolysis among G6PD deficiency patients. The frequency and severity is influenced by genetic and cultural factors. It is common in Mediterranean, African and some East Asian populations but rare in Bangladeshi peoples. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Corresponding author: Sarfraz Mash, QR code Post RN (BSN) 2nd semester student Sarfraz Mash, Lahore school of Nursing. Please cite this article in press Sarfraz Mash et al., G6PD Level Deficiency In Malria., Indo Am. J. P. Sci, 2019; 06(08). www.iajps.com Page 15436 IAJPS 2019, 06 (08), 15436-15440 Sarfraz Mash et al ISSN 2349-7750 INTRODUCTION: phosphate dehydrogenase. -
Glucose-6-Phosphate Dehydrogenase Deficiency In
omics & en P Brito et al., J Pharmacogenomics Pharmacoproteomics 2014, 5:2 g h o a c r a m DOI: 10.4172/2153-0645.1000125 m a r c a o Journal of h p P r o f t o e l ISSN: 2153-0645o a m n r i c u s o J Pharmacogenomics & Pharmacoproteomics Research Article Article OpenOpen Access Access Glucose-6-Phosphate Dehydrogenase Deficiency in Children from 0 to 14 Years Hospitalized at the Pediatric Hospital David Bernardino, Luanda, Angola Miguel Brito1,2*, Chissengo Lucama Tchonhi3, Brigida Santos4 and Luisa Veiga1 1Lisbon School of Health Technology, Polytechnic Institute of Lisbon, Portugal 2CISA Project–Health Research Centre in Angola, Caxito, Angola 3Faculty of Medicine, University Agostinho Neto, Luanda, Angola 4Hospital Pediatrico David Bernardino, Luanda, Angola Abstract The Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymatic defect in the world. The most common clinical manifestations are acute hemolytic anemia associated with drugs, infections, neonatal jaundice and hemolytic non-spherocytic chronic anemia. The main aim of this study was to determine the frequency of major genetic variants of G6PD leading to enzyme deficiency in children from 0 to 14 years at a Pediatric Hospital in Luanda, Angola. A cross-sectional and descriptive analytical study covered a total of 194 children aged from 0 to 14 years, of both genders and hospitalized at the Pediatric Hospital David Bernardino, Luanda between November and December, 2011. The G202A, A376G and C563T mutations of the G6PD gene were determined by real-time PCR with Taqman probes. The disabled A-/A- genotype was detected in 10 girls (10.9%). -
Chapter 03- Diseases of the Blood and Certain Disorders Involving The
Chapter 3 Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism (D50- D89) Excludes2: autoimmune disease (systemic) NOS (M35.9) certain conditions originating in the perinatal period (P00-P96) complications of pregnancy, childbirth and the puerperium (O00-O9A) congenital malformations, deformations and chromosomal abnormalities (Q00-Q99) endocrine, nutritional and metabolic diseases (E00-E88) human immunodeficiency virus [HIV] disease (B20) injury, poisoning and certain other consequences of external causes (S00-T88) neoplasms (C00-D49) symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified (R00-R94) This chapter contains the following blocks: D50-D53 Nutritional anemias D55-D59 Hemolytic anemias D60-D64 Aplastic and other anemias and other bone marrow failure syndromes D65-D69 Coagulation defects, purpura and other hemorrhagic conditions D70-D77 Other disorders of blood and blood-forming organs D78 Intraoperative and postprocedural complications of the spleen D80-D89 Certain disorders involving the immune mechanism Nutritional anemias (D50-D53) D50 Iron deficiency anemia Includes: asiderotic anemia hypochromic anemia D50.0 Iron deficiency anemia secondary to blood loss (chronic) Posthemorrhagic anemia (chronic) Excludes1: acute posthemorrhagic anemia (D62) congenital anemia from fetal blood loss (P61.3) D50.1 Sideropenic dysphagia Kelly-Paterson syndrome Plummer-Vinson syndrome D50.8 Other iron deficiency anemias Iron deficiency anemia due to inadequate dietary