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860 Possible Causes for Autosomal Recessive, Microcytic Anemia

  • Erythropoietic Protoporphyria

    […] effect from the mutant FECH allele. 25 The prevalence of autosomal recessive EPP has not been established.[jmg.bmj.com] Microcytic anemia occurs in 20% to 60% of patients. We investigated 178 patients with dominant EPP confirmed by molecular analysis.[ncbi.nlm.nih.gov] anemia, thrombocytopenia, and mild hepatic dysfunction.[ncbi.nlm.nih.gov]

  • Hereditary Spherocytosis

    […] spherocytosis on repeated blood films, Coombs-negative hemolytic jaundice and normal MCHC and MCV measurements, where SDS-PAGE revealed alpha-spectrin deficiency, a rare autosomal-recessive[ncbi.nlm.nih.gov] anemia of varying degree. [3] Uraninite is a radioactive, uranium-rich mineral and ore with a chemical composition that is largely UO2, but also contains UO3 and oxides of[interhomeopathy.org] This condition can also be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.[ghr.nlm.nih.gov]

  • 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]

  • Thalassemia

    Abstract β-Thalassemia (β-thal) is the most widespread autosomal recessive disorder worldwide.[ncbi.nlm.nih.gov] Note : Thalassemia is a microcytic, hypochromic anemia. Its cause is a genetically based decreased synthesis of one or several globin chains.[lecturio.com] Congenital erythropoietic porphyria is a rare autosomal recessive disorder that affects heme-porphyrin synthesis.[ncbi.nlm.nih.gov]

  • Microcytic Anemia

    The objective of the study was to report a novel autosomal recessive lipodystrophy syndrome.[ncbi.nlm.nih.gov] Typical causes of microcytic anemia include: Childhood Iron deficiency anemia, by far the most common cause of anemia in general and of microcytic anemia in particular Thalassemia[en.wikipedia.org] The mutation segregated in an autosomal-recessive fashion and was not detected in 275 unrelated ethnically matched healthy subjects.[ncbi.nlm.nih.gov]

  • Pyridoxine Dependency Syndrome

    Recessive Dopa-Responsive Dystonia, Autosomal Recessive Dystonia, Dopa-Responsive, Autosomal Recessive Parkinsonism, Infantile, Autosomal Recessive Tyrosine Hydroxylase Deficiency[ukgtn.nhs.uk] […] paralysis, convulsions, severe microcytic anemia, and poor feather development. 1%, pyridoxine deficiency (detected on clinical response) 1.[medical-dictionary.thefreedictionary.com] While this may be correct in some cases, P5P deficiency can also cause microcytic anemia.[metabolichealing.com]

  • 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]

  • Hypochromic Microcytic Anemia with Iron Overload Type 2

    Severe congenital hypochromic anemia with ringed sideroblasts due to mutations in STEAP3 gene is most likely to be inherited in an autosomal recessive manner.[enerca.org] Causes of Microcytic Anemia Is It Anemia? Is It Microcytic?[pedsinreview.aappublications.org] Modes of transmission include mitochondrial, X-linked, autosomal recessive, an unusual mixed mitochondrial and autosomal recessive form, and other undefined pathways.[basicmedicalkey.com]

  • Hereditary Sideroblastic Anemia

    Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. Nat Genet. 2009;41:651–3.[link.springer.com] Hypochromic microcytic anemias include: Iron deficiency anemia: The most common cause of microcytic anemia is an iron deficiency in the blood.[healthline.com] recessive sideroblastic anemia Autosomal dominant aplasia and myelodysplasia Autosomal recessive sideroblastic anemia Blackfan-Diamond anemia Congenital amegakaryocytic thrombocytopenia[se-atlas.de]

  • Beta Thalassemia

    Thalassemia major and thalassemia intermedia are inherited in an autosomal recessive pattern, which means both copies of the HBB gene in each cell have mutations.[ghr.nlm.nih.gov] Note : Thalassemia is a microcytic, hypochromic anemia. Its cause is a genetically based decreased synthesis of one or several globin chains.[lecturio.com] Beta-thalassaemia is an autosomal recessive condition. Beta-thalassaemia is caused by mutations in the beta-globin gene.[genomicseducation.hee.nhs.uk]

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