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124 Possible Causes for Erythropoietic Porphyria, Hemoglobin Decreased

  • Porphyria

    Heme —The iron-containing molecule in hemoglobin that serves as the site for oxygen binding.[] Desnick, Congenital erythropoietic porphyria: Recent advances, Molecular Genetics and Metabolism, 10.1016/j.ymgme.2018.12.008, (2018).[] What is congenital erythropoietic porphyria?[]

  • Acute Hepatic Porphyria

    porphyria E80.1 Porphyria cutanea tarda E80.2 Other and unspecified porphyria E80.20 Unspecified porphyria E80.21 Acute intermittent (hepatic) porphyria E80.3 Defects of[] 2015/16 ICD-10-CM E80.29 Other porphyria Approximate Synonyms Acute intermittent porphyria Disorder of porphyrin metabolism Erythropoietic protoporphyria Porphyria Porphyria[] AIP VP HCP Variegate Coproporphyria Additional relevant MeSH terms: Layout table for MeSH terms Porphyrias Porphyria, Erythropoietic Porphyrias, Hepatic Coproporphyria, Hereditary[]

  • Acute Intermittent Porphyria

    There are seven main types of porphyrias; acute intermittent porphyria and plumboporphyria are predominantly neuropsychiatric; congenital erythropoietic porphyria, porphyria[] Called also intermittent acute porphyria. congenital erythropoietic porphyria (CEP) a form of erythropoietic porphyria, with cutaneous photosensitivity leading to mutilating[] (ADP) Porphyria Cutanea Tarda (PCT) Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP) Congenital Erythropoietic Porphyria (CEP) Hepatoerythropoietic Porphyria[]

  • Anemia

    It is defined by abnormally low hemoglobin concentration or decreased red blood cells. Several classification systems exist.[] Metabolic correction of congenital erythropoietic porphyria with iPSCs free of reprogramming factors. Am. J. Hum. Genet. 91, 109–121 (2012). 104.[] hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow[]

  • Sideroblastic Anemia

    Abstract Sideroblastic anemias are acquired or inherited anemias that result in a decreased ability to synthesize hemoglobin in red blood cells and result in the presence[] Congenital erythropoietic porphyria (CEP), an autosomal recessive disorder, results from the markedly deficient activity of uroporphyrinogen III synthase [UROS] (also known[] Blood 2017 129:2710; doi: A 3-month-old boy presented with decreased appetite, fatigue, and a nosebleed.[]

  • Glycogen Storage Disease due to Phosphoglycerate Kinase 1 Deficiency

    His Hemoglobin level was 7G/dl. Red blood cell isolated from the patient showed abnormally low-level of lactate.[] Porphyria Except Congenital Erythropoietic Porphyria which is autosomal recessive Conditions prefixed “hereditary” or “familial” Hereditary cancer syndromes ‘Gain of function[] porphyria Congenital factor II deficiency Congenital factor V deficiency Congenital factor VII deficiency Congenital factor X deficiency Congenital factor XI deficiency Congenital[]

  • Congenital Dyserythropoietic Anemia

    Cord blood hemoglobin (Hb) at birth in full term infants is 16-17g/dL, does not decrease appreciably during the first week of life, and then declines slowly to a physiological[] , the porphyrin intermediates accumulate due to blocked, deficient, or abnormal enzymes that usually progress the synthesis sequence Congenital Erythropoietic Porphyria[] From Wikidata Jump to navigation Jump to search congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red[]

  • Hereditary Sideroblastic Anemia

    Males affected with sideroblastic anemia had growth retardation, hypochromic microcytic anemia, elevated serum iron, decreased unsaturated iron-binding capacity, increased[] Erythropoietic protoporphyria, X-linked dominant (XLDPT) [MIM:300752]: A form of porphyria.[] […] the Need for Allogenic Packed Red Blood Cell Transfusion (BMJ, 2013) [ MEDLINE ] Intravenous Iron is Effective in Increasing Hemoglobin Concentration and Decreasing the Risk[]

  • Thalassemia

    Clinical Information A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains.[] As a result, he was diagnosed as having Congenital erythropoietic porphyria.[] Laboratory studies: decreased Hgb, Hct, MCV; increased RBC count, RDW; HbH on hemoglobin electrophoresis; iron studies normal.[]

  • Lead Poisoning

    ALAD2 carriers were potentially protected against adverse hemapoietic effects (ZPP and hemoglobin levels), perhaps because of decreased lead bioavailability to heme pathway[] In the described case of the death of a 41-year-old-man, no enzymatic disturbances characteristic of congenital erythropoietic porphyria were ascertained, and furthermore,[] When Uroporphyrinogen III synthase is deficient, as in congenital erythropoietic Porphyria (Gunther’s disease), hydroxymethylbilane rapidly undergoes nonenzymatic ring closure[]

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