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97 Possible Causes for Complete Blood Count Abnormal, Erythropoietic Porphyria

  • Porphyria

    Desnick, Congenital erythropoietic porphyria: Recent advances, Molecular Genetics and Metabolism, 10.1016/j.ymgme.2018.12.008, (2018).[doi.org] What is congenital erythropoietic porphyria?[britishskinfoundation.org.uk] Erythropoietic porphyrias include erythropoietic protoporphyria and congenital erythropoietic porphyria.[ghr.nlm.nih.gov]

  • 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[icd10data.com] 2015/16 ICD-10-CM E80.29 Other porphyria Approximate Synonyms Acute intermittent porphyria Disorder of porphyrin metabolism Erythropoietic protoporphyria Porphyria Porphyria[icd9data.com] AIP VP HCP Variegate Coproporphyria Additional relevant MeSH terms: Layout table for MeSH terms Porphyrias Porphyria, Erythropoietic Porphyrias, Hepatic Coproporphyria, Hereditary[clinicaltrials.gov]

  • Hepatoerythropoietic Porphyria

    Erythropoietic porphyrias include erythropoietic protoporphyria and congenital erythropoietic porphyria.[ghr.nlm.nih.gov] Certain clinical and biochemical features distinguish HEP from erythropoietic porphyria and erythropoietic protoporphyria, the two diseases with which HEP is often confused[ncbi.nlm.nih.gov] porphyrias, it usually includes only erythropoietic protoporphyria .[medicine.academic.ru]

  • Erythropoietic Porphyria

    (disorder) Gunther disease Erythropoietic porphyria Congenital erythropoietic porphyria Uroporphyrinogen 3 Synthase Deficiency GC Günther disease PORPHYRIA, CONGENITAL ERYTHROPOIETIC[wikidata.org] To date 130 cases of congenital erythropoietic porphyria have been published and are summarized here.[ncbi.nlm.nih.gov] Molecular genetics of congenital erythropoietic porphyria.[ncbi.nlm.nih.gov]

  • Erythropoietic Coproporphyria

    Prenatal exclusion of congenital erythropoietic porphyria (Günther's disease) in a fetus at risk. Hum. Genet. 53 (1980) 217–221 Google Scholar Doss, M.[link.springer.com] Molecular genetics of congenital erythropoietic porphyria.[ncbi.nlm.nih.gov] From her mother she inherited the trait of hereditary coproporphyria; from both parents she inherited the trait of congenital erythropoietic porphyria (Günther disease).[link.springer.com]

  • Acute Intermittent Porphyria

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

  • Anemia

    Often, anemia caused by chronic diseases goes undetected until a routine test such as a complete blood count (CBC) reveals abnormal results.[labtestsonline.org] Metabolic correction of congenital erythropoietic porphyria with iPSCs free of reprogramming factors. Am. J. Hum. Genet. 91, 109–121 (2012). 104.[dx.doi.org] Metabolic correction of congenital erythropoietic porphyria with iPSCs free of reprogramming factors.[ncbi.nlm.nih.gov]

  • Thrombocytopenia

    In a patient who is otherwise in his/her usual state of good health who has not taken a new medication, has thrombocytopenia and no other abnormality found in a complete blood[rarediseases.org] When the spleen bleeds following physical trauma Following spontaneous rupture For long-term treatment of congenital erythropoietic porphyria (CEP) if severe hemolytic anemia[en.wikipedia.org] count or upon inspection of the blood smear, and has no family history of thrombocytopenia, the diagnosis of ITP is favored.[rarediseases.org]

  • Sideroblastic Anemia

    Complete blood count with differential will show variable severity of anemia, with usually normal leukocytes and platelets.[clinicaladvisor.com] Congenital erythropoietic porphyria (CEP), an autosomal recessive disorder, results from the markedly deficient activity of uroporphyrinogen III synthase [UROS] (also known[ommbid.mhmedical.com] One example that includes porphyria is the GATA1 erythroid transcription factor, where different mutations can lead to thalassemia, macrothrombocytopenia, or congenital erythropoietic[haematologica.org]

  • Hereditary Sideroblastic Anemia

    Complete blood count with differential will show variable severity of anemia, with usually normal leukocytes and platelets.[clinicaladvisor.com] Erythropoietic protoporphyria, X-linked dominant (XLDPT) [MIM:300752]: A form of porphyria.[genecards.org] Ringed sideroblast, with or without significant anemia have been documented in other genetic disorders, notably: Erythropoietic porphyria, in which significant anemia can[psychiatryadvisor.com]

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