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106 Possible Causes for Autosomal Recessive, Microcytic Anemia, Neutrophil Count Decreased

  • Sideroblastic Anemia

    Here, by positional cloning, we define a previously unknown form of autosomal recessive nonsyndromic congenital sideroblastic anemia, associated with mutations in the gene[ncbi.nlm.nih.gov] The characteristic hypochromic, microcytic anemia typically becomes manifest in the first three decades of life.[ncbi.nlm.nih.gov] We report the seventh case of autosomal recessive inherited mitochondrial myopathy, lactic acidosis, and sideroblastic anemia The patient, a product of consanguineous Persian[ncbi.nlm.nih.gov]

  • Methylmalonic Acidemia with Homocystinuria Type cblJ

    recessive Age of onset: Infancy, Neonatal ICD-10: E71.1 OMIM: 614857 UMLS: - MeSH: - GARD: 12621 MedDRA: - Detailed information Article for general public Czech (2011, pdf[orpha.net] Causes of Microcytic Anemia Is It Anemia? Is It Microcytic?[pedsinreview.aappublications.org] recessive inheritance 0000007 Congenital onset Symptoms present at birth 0003577 Decreased adenosylcobalamin 0003145 Feeding difficulties Feeding problems Poor feeding [[rarediseases.info.nih.gov]

  • Iron Deficiency Anemia

    Iron-refractory iron deficiency anemia (IRIDA) is a rare hereditary form of IDA with autosomal recessive inheritance.[ncbi.nlm.nih.gov] Abstract Iron-refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive disease characterized by congenital hypochromic microcytic anemia, low transferrin saturation[ncbi.nlm.nih.gov] Abstract Iron-refractory iron deficiency anemia (IRIDA) is a rare autosomal-recessive disorder hallmarked by hypochromic microcytic anemia, low transferrin saturation, and[ncbi.nlm.nih.gov]

  • Methylmalonic Acidemia with Homocystinuria Type cblF

    There are four types of the disease, all of which are inherited in an autosomal recessive manner and caused by functional deficiencies of methionine synthase and methylmalonyl-CoA[symptoma.com] Causes of Microcytic Anemia Is It Anemia? Is It Microcytic?[pedsinreview.aappublications.org] It's a rare autosomal recessive disease in which there are several variants depending on the pathogenesis of the metabolic disorder (cblC, cblD, cblF and cblJ).[ncbi.nlm.nih.gov]

  • Leukoerythroblastic Anemia

    Myeloproliferative Disease, Autosomal Recessive Myeloproliferative Disorder, Chronic, with Eosinophilia myeloproliferative neoplasm neonatal anemia normocytic anemia pancytopenia[rgd.mcw.edu] THIS IS NOT A TRUE DECREASE BUT RESULTS FROM INCREASED MARGINATION BY NEUTROPHILS.[meddean.luc.edu] PH 1 is an autosomal recessive disorder characterized by hyperoxaluria, calcium oxalate urinary lithiasis in childhood, nephrocalcinosis and renal failure which in turn leads[ijpmonline.org]

  • Anemia due to Vitamin B6 Deficiency

    The autosomal recessive form is typically severe in presentation.[en.wikipedia.org] While this may be correct in some cases, P5P deficiency can also cause microcytic anemia.[metabolichealing.com] Acquired deficiency is associated with inflammatory disorders and with concurrent use of several medications. [6, 7] Inherited pyridoxine-dependent seizure is a rare autosomal-recessive[emedicine.medscape.com]

  • Gaucher Disease

    recessive.[symptoma.com] […] hypochromic anemia, International Journal of Hematology, 10.1007/s12185-018-2559-3, (2018).[doi.org] Abstract Gaucher disease is an autosomal recessively inherited lysosomal storage disease in which a deficiency of glucocerebrosidase is associated with the accumulation of[ncbi.nlm.nih.gov]

  • Paroxysmal Nocturnal Hemoglobinuria

    recessive inheritance with incomplete penetrance.22 In a family having 1 sibling with a PDA, there is an 3% chance of a PDA in a subsequent offspring.21 The precise mechanisms[ahajournals.org] […] the requirement of genetic predisposition and an environmental trigger that occurs at a vulnerable time.21 The genetic mechanism of patent ductus in some patients may be autosomal[ahajournals.org]

  • Congenital Malabsorption of Folic Acid

    This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations.[ghr.nlm.nih.gov] Absolute Neutrophil Count (ANC) Use additional code for any associated: fever (780.6) mucositis (478.11, 528.00-528.09, 538, 616.81) Excludes: neutropenic splenomegaly (289.53[theodora.com] ., methotrexate, sulfonamides, phenytoin ) Green leaves Other deficiencies Protein: edema, cachexia Iron deficiency anemia or microcytic anemia Electrolytes: hypokalemia or[amboss.com]

  • Thalassemia

    Abstract β-Thalassemia (β-thal) is the most widespread autosomal recessive disorder worldwide.[ncbi.nlm.nih.gov] neutrophil count, neutropenia. 1 Interactions for Ferriprox Metabolized principally by uridine diphosphate-glucuronosyltransferase (UGT) 1A6. 1 Drugs Affecting UGT Enzymes[web.archive.org] Note : Thalassemia is a microcytic, hypochromic anemia. Its cause is a genetically based decreased synthesis of one or several globin chains.[lecturio.com]

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