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79 Possible Causes for Autosomal Recessive, Cold Intolerance, 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]

  • Iron Deficiency Anemia

    Iron-refractory iron deficiency anemia (IRIDA) is a rare hereditary form of IDA with autosomal recessive inheritance.[ncbi.nlm.nih.gov] […] celery or other cold vegetables) to suck or chew Poor scholastic performance Cold intolerance Reduced resistance to infection Altered behavior (eg, attention deficit disorder[emedicine.medscape.com] 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]

  • 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] This may lead to a variety of symptoms, including weight gain, fatigue, depression, dry skin, brain fog, cold intolerance, muscle cramps, and constipation.[verywell.com] The anemia is then categorized as microcytic, macrocytic or normocytic, with or without reticulocytosis.[ncbi.nlm.nih.gov]

  • Microcytic Anemia

    The objective of the study was to report a novel autosomal recessive lipodystrophy syndrome.[ncbi.nlm.nih.gov] Cold intolerance occurs in 20 percent of patients with iron deficiency anemia and it becomes visible through numbness and tingling.[newworldencyclopedia.org] Causes[edit] Typical causes of microcytic anemia include: Childhood Iron deficiency anemia,[1] by far the most common cause of anemia in general and of microcytic anemia in[en.wikipedia.org]

  • Growth Failure

    ABSTRACT Type Ia Glycogen storage disease is an autosomal recessive hepatic metabolic disease due to a lack of glucose-6-phosphatase (G-6-Pase) activity presenting with growth[degruyter.com] Case 2 : A 13-year-old girl presented with 1-year history of cold intolerance, poor growth, low mood and constipation. Her pubertal staging was B3P3A2M1.[abstracts.eurospe.org] […] hypochromic anemia [ 35 ].[bmcpediatr.biomedcentral.com]

  • Constitutional Megaloblastic Anemia due to Folate Metabolism Disorder

    Sign Up A 42-year-old Mormon female is evaluated for fatigue of 3 months duration accompanied by constipation, intolerance to cold, menstrual irregularities, and weight gain[knowledge.statpearls.com] Affiliated tissues include neutrophil , and related phenotypes are jaundice and pallor OMIM : 57 Dihydrofolate reductase deficiency is an autosomal recessive metabolic disorder[malacards.org] […] by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia, and variable neurodegeneration.[bloodgenetics.com]

  • Normocytic Normochromic Anemia

    Idiopathic - Anti-metabolites e.g. methotrexate, other cancer therapy - Alkylating agents e.g. cancer therapy - Virus e.g. parvovirus B19, EBV, HIV, HCV - Fanconi's anemia: autosomal[quizlet.com] Renal anaemia may lead to the onset or aggravation of lethargy, cold intolerance and loss of stamina.[patient.info] anemia- iron deficiency, anemia of chronic disease, thalassemia minor, sideroblastic anemia Microcytic anemia 1.[slideshare.net]

  • Iron Deficiency

    Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder of heme synthesis characterized by reduced activity of uroporphyrinogen III synthase and the accumulation[ncbi.nlm.nih.gov] Other symptoms include: Adults: hair loss, fatigue, cold intolerance, restless leg syndrome, irritability.[www2.gov.bc.ca] Differentiation from other microcytic anemias Iron deficiency anemia must be differentiated from other microcytic anemias (see table Differential Diagnosis of Microcytic Anemia[merckmanuals.com]

  • Panhypopituitarism

    This mutation is also carried in the parents of the affected child in a heterozygous pattern, suggesting an autosomal recessive inheritance.[ncbi.nlm.nih.gov] A 41-year-old man presented with extreme fatigue, cold intolerance and anorexia with 20 kg weight loss in the last 6 months. His medical history was unremarkable.[ncbi.nlm.nih.gov] The previously collected complete blood count with differential was normal except for a mild microcytic anemia (later worked up and thought to be due to menorrhagia).[retina-specialist.com]

  • Hemochromatosis

    Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism resulting in toxic accumulation of iron in vital organs.[ncbi.nlm.nih.gov] Symptomatic patients should be tested for thyroid function Tiredness, lethargy, cold intolerance, constipation etc These are symptoms suggestive of hypothyroidism.[medicaljoyworks.com] A(hypo)transferrinemia is an extremely rare autosomal recessive disorder of iron overload characterized by severe microcytic anemia [ 9 ], which was not present in this patient[karger.com]

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