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191 Possible Causes for Autosomal Recessive, Decreased Platelet Count, 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[] Postoperative markedly elevated platelet count was maintained up to 6 months, and after that, platelet count gradually decreased to normal values.[] 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[]

  • 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[] The characteristic hypochromic, microcytic anemia typically becomes manifest in the first three decades of life.[] We report the seventh case of autosomal recessive inherited mitochondrial myopathy, lactic acidosis, and sideroblastic anemia The patient, a product of consanguineous Persian[]

  • Cooley's Anemia

    recessive trait requiring that both parents pass on a copy of the defective gene located on the chromosome numbered 11.[] RBC and WBC counts are low. Platelet count is low. Red blood cell indices are usually normal.[] The defective gene in Cooley's anemia is on chromosome 11. The insufficient production of the globin chains results in microcytic anemia.[]

  • Iron Deficiency Anemia

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

  • Anemia due to Vitamin B6 Deficiency

    The autosomal recessive form is typically severe in presentation.[] Platelet Count Platelets are fragments of cells that participate in clotting. They initiate repair of blood vessel walls.[] While this may be correct in some cases, P5P deficiency can also cause microcytic anemia.[]

  • Gaucher Disease

    recessive.[] Platelet Count [] Serum Decreased Platelet Count [] Serum Decreased Platelet Count Decreased platelet counts (thrombocytopenia) as well as low[] […] hypochromic anemia, International Journal of Hematology, 10.1007/s12185-018-2559-3, (2018).[]

  • Glanzmann Thrombasthenia

    Glanzmann thrombasthenia is a rare, autosomal recessive, qualitative platelet disorder resulting from abnormal platelet surface glycoprotein IIb/IIIa.[] […] aggregation studies Results are as follows: The platelet count and coagulation tests should be normal The red blood cell count may be decreased due to bleeding and/or concomitant[] Hemoglobin level was 12.1 g/dL, and mean corpuscular volume (MCV) was 75.6% which indicated microcytic hypochromic anemia.[]

  • Primary Immune Deficiency Disorder

    […] mechanisms Clinical presentation Treatment Leukemia secondary to CN Conclusion Acknowledgments Chapter 11: B-Cell Defects: From X-linked Recessive to Autosomal Recessive[] anemia, and panniculitis-induced lipodystrophy syndrome AR 5 9 PSTPIP1 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne AD 5 29 PTPRC Severe combined immunodeficiency[] SCID-Types • Main Types: Autosomal recessive (-ve T & B cells) X-linked recessive( ve B cells) • Other important types: Nezelof Syndrome SCID associated with ADA & PNP[]

  • Isovaleric Acidemia

    Homepage Rare diseases Search Search for a rare disease Isovaleric acidemia Disease definition An autosomal recessively inherited organic aciduria characterized by a deficiency[] By one year of age, some children may show a mild microcytic anemia.[] Homepage Rare diseases Search Search for a rare disease Isovaleric acidemia Disease definition Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria[]

  • Lead Poisoning

    We believe that this constellation of clinical and radiographic abnormalities closely resembles osteosclerotic metaphyseal dysplasia (OMD) due to an autosomal recessive defect[] Anemia Leukocytosis Urine microscopy of sediment or renal biopsy Acid-fast inclusion bodies in tubular nuclei Pathognomonic for lead poisoning Free Erythrocyte Protoporphyrin[] Creates a microcytic anemia, with basophilic stippling Often seen concurrently with iron deficiency (GI transporters will more avidly uptake heavy metals in this situation[]

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