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108 Possible Causes for Autosomal Recessive, Mean Corpuscular Volume Decreased, 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[] […] cell volume ( MCV ) within normal range ( 80-100 fL ) or slightly decreased Mean corpuscular hemoglobin concentration ( MCHC ) Red blood cell distribution width ; ( RDW )[] 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[] Initial workup revealed hemoglobin 2.6 g/dL (10.2-12.7), hematocrit 7.7% (30.9-37.9), mean corpuscular volume 104 fL (71.3-82.6), white blood cell count 4200/μL (240 absolute[] The characteristic hypochromic, microcytic anemia typically becomes manifest in the first three decades of life.[]

  • Thalassemia

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

  • Iron Deficiency Anemia

    Iron-refractory iron deficiency anemia (IRIDA) is a rare hereditary form of IDA with autosomal recessive inheritance.[] IV iron sucrose resulted in a statistically significant and clinically meaningful increase in hemoglobin, mean corpuscular volume, serum iron, ferritin, and % iron saturation[] Abstract Iron-refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive disease characterized by congenital hypochromic microcytic anemia, low transferrin saturation[]

  • Alpha-Thalassemia

    The mode of transmission of alpha thalassaemia is autosomal recessive.[] mean corpuscular volume (MCV) and decreased mean corpuscular hemoglobin (MCH) Essential features Group of inherited autosomal recessive diseases caused by an α-globin chain[] MATERIAL AND METHODS: Two hundred six patients with hypochromic microcytic anemia were evaluated for alpha thalassemia.[]

  • Pyridoxine Dependency Syndrome

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

  • Cooley's Anemia

    recessive trait requiring that both parents pass on a copy of the defective gene located on the chromosome numbered 11.[] Average size of RBCs (mean corpuscular volume, MCV)—decreased Average amount of hemoglobin in RBCs (mean corpuscular hemoglobin, MCH)—decreased Hemoglobin concentration (mean[] The defective gene in Cooley's anemia is on chromosome 11. The insufficient production of the globin chains results in microcytic anemia.[]

  • Diaphragmatic Hernia

    recessive and autosomal dominant patterns of inheritance have been reported.[] Autosomal recessive condition that is usually fatal.[] Congenital diaphragmatic hernia is a recognized finding in Cornelia de Lange syndrome and also occurs as a prominent feature of Fryns syndrome, an autosomal recessive disorder[]

  • Cecal Adenocarcinoma

    Bloom syndrome is a rare autosomal recessive disorder characterized by short stature, brachydactyly, malar hypoplasia and facial telangiectasia, erythema and cafe au lait[] anemia or has a change in bowel habits, do colonoscopy Metastatic workup: CXR, abdominal CT/ultrasound Bone scan, CT head only if lesions suspected Labs: CBC, urinalysis[] Bloom syndrome is a rare autosomal recessive disorder characterised by short stature, brachydactyly, malar hypoplasia and facial telangiectasia, erythema and cafe au lait[]

  • Duodenal Ulcer

    Plasminogen deficiency (PLD) is an autosomal recessive disease that causes pseudomembranous lesions in different organs, but gastrointestinal involvement is rare.[]

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