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218 Possible Causes for Autosomal Recessive, Complete Blood Count Abnormal, Microcytic Anemia

  • 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] […] increased Complete blood count to check for anemia Coombs’ test LDH level: Increased Osmotic fragility : This test is widely considered the gold standard for diagnosing hereditary[medical-labs.net] 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]

  • 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] Complete blood count with differential will show variable severity of anemia, with usually normal leukocytes and platelets.[clinicaladvisor.com] The characteristic hypochromic, microcytic anemia typically becomes manifest in the first three decades of life.[ncbi.nlm.nih.gov]

  • Thalassemia

    Abstract β-Thalassemia (β-thal) is the most widespread autosomal recessive disorder worldwide.[ncbi.nlm.nih.gov] A complete blood count (CBC) reveals anemia. A test called hemoglobin electrophoresis shows the presence of an abnormal form of hemoglobin.[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]

  • Iron Deficiency Anemia

    Iron-refractory iron deficiency anemia (IRIDA) is a rare hereditary form of IDA with autosomal recessive inheritance.[ncbi.nlm.nih.gov] Blood sample was collected for complete blood count and ferritin assay.[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]

  • Alpha-Thalassemia

    The mode of transmission of alpha thalassaemia is autosomal recessive.[ncbi.nlm.nih.gov] A complete blood count (CBC) reveals anemia. A test called hemoglobin electrophoresis shows the presence of an abnormal form of hemoglobin.[medlineplus.gov] MATERIAL AND METHODS: Two hundred six patients with hypochromic microcytic anemia were evaluated for alpha thalassemia.[ncbi.nlm.nih.gov]

  • 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] Complete blood count with differential will show variable severity of anemia, with usually normal leukocytes and platelets.[clinicaladvisor.com] Hypochromic microcytic anemias include: Iron deficiency anemia: The most common cause of microcytic anemia is an iron deficiency in the blood.[healthline.com]

  • Cooley's Anemia

    recessive trait requiring that both parents pass on a copy of the defective gene located on the chromosome numbered 11.[merriam-webster.com] Blood tests Peripheral blood smear shows small, abnormally-shaped red blood cells Complete blood count shows anemia Haemoglobin electrophoresis shows abnormal hemoglobin Prognosis[myvmc.com] The defective gene in Cooley's anemia is on chromosome 11. The insufficient production of the globin chains results in microcytic anemia.[symptoma.com]

  • Acquired Sideroblastic Anemia

    This disease is inherited in autosomal recessive manner.[bloodgenetics.com] Complete blood count with differential will show variable severity of anemia, with usually normal leukocytes and platelets.[clinicaladvisor.com] We describe two cases of congenital sideroblastic anemia, one of them indicating an autosomal recessive inheritance, with their clinico-hematological profile.[ijpmonline.org]

  • Anemia

    ORPHA:1047 Synonym(s): - Prevalence: Unknown Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive or X-linked dominant or Mitochondrial inheritance[orpha.net] Often, anemia caused by chronic diseases goes undetected until a routine test such as a complete blood count (CBC) reveals abnormal results.[labtestsonline.org] The anemia is then categorized as microcytic, macrocytic or normocytic, with or without reticulocytosis.[ncbi.nlm.nih.gov]

  • Thalassaemia-Haemoglobin C Disease

    […] dominant Charcot-Marie-Tooth disease type 2K Autosomal recessive Charcot-Marie-Tooth disease with hoarseness Autosomal recessive intermediate Charcot-Marie-Tooth disease[csbg.cnb.csic.es] An evaluation is usually ordered when results of a complete blood count (CBC) and/or blood smear indicate that a person may have an abnormal form of hemoglobin.[labtestsonline.org] anemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001935 3 abnormal hemoglobin 60 33 hallmark (90%) Very frequent (99-80%) HP:0011902 4 anemia 60 Very frequent (99-80%[malacards.org]

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