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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[ncbi.nlm.nih.gov] […] cell volume ( MCV ) within normal range ( 80-100 fL ) or slightly decreased Mean corpuscular hemoglobin concentration ( MCHC ) Red blood cell distribution width ; ( RDW )[amboss.com] 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] 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[bloodjournal.org] 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] 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]

  • Iron Deficiency Anemia

    Iron-refractory iron deficiency anemia (IRIDA) is a rare hereditary form of IDA with autosomal recessive inheritance.[ncbi.nlm.nih.gov] IV iron sucrose resulted in a statistically significant and clinically meaningful increase in hemoglobin, mean corpuscular volume, serum iron, ferritin, and % iron saturation[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] mean corpuscular volume (MCV) and decreased mean corpuscular hemoglobin (MCH) Essential features Group of inherited autosomal recessive diseases caused by an α-globin chain[pathologyoutlines.com] MATERIAL AND METHODS: Two hundred six patients with hypochromic microcytic anemia were evaluated for alpha thalassemia.[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]

  • 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] Average size of RBCs (mean corpuscular volume, MCV)—decreased Average amount of hemoglobin in RBCs (mean corpuscular hemoglobin, MCH)—decreased Hemoglobin concentration (mean[labtestsonline.org] The defective gene in Cooley's anemia is on chromosome 11. The insufficient production of the globin chains results in microcytic anemia.[symptoma.com]

  • Diaphragmatic Hernia

    recessive and autosomal dominant patterns of inheritance have been reported.[emedicine.com] Autosomal recessive condition that is usually fatal.[en.wikibooks.org] 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[emedicine.com]

  • 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[radiopaedia.org] 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[slideshare.net] Bloom syndrome is a rare autosomal recessive disorder characterised by short stature, brachydactyly, malar hypoplasia and facial telangiectasia, erythema and cafe au lait[radiopaedia.org]

  • Duodenal Ulcer

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

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