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722 Possible Causes for Autosomal Recessive, Hypothyroidism, Microcytic Anemia

  • Thalassemia

    Abstract β-Thalassemia (β-thal) is the most widespread autosomal recessive disorder worldwide.[] After exclusion of familial triglyceridemia and secondary causes (hypothyroidism, nephrotic syndrome, drugs etc.), a diagnosis of hypertriglyceridemia thalassemia syndrome[] Note : Thalassemia is a microcytic, hypochromic anemia. Its cause is a genetically based decreased synthesis of one or several globin chains.[]

  • Iron Deficiency Anemia

    Iron-refractory iron deficiency anemia (IRIDA) is a rare hereditary form of IDA with autosomal recessive inheritance.[] Iron deficiency can often times be confused with low thyroid or hypothyroidism. Iron loss can contribute to a multitude of health problems – not just fatigue.[] Abstract Iron-refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive disease characterized by congenital hypochromic microcytic anemia, low transferrin saturation[]

  • Zinc Deficiency

    Zinc deficiency can be an autosomal recessive inherited or acquired disorder and is classically characterized by acral and periorificial dermatitis, alopecia, and diarrhea[] It’s thought that hair loss due to hypothyroidism will not improve unless a zinc supplement is taken along with the thyroid drugs. 5.[] Acrodermatitis enteropathica (AE) is an autosomal recessive disorder with the clinical triad of acral dermatitis, diarrhea and alopecia.[]

  • 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[] Iron deficiency slows your body's thyroid function and blocks its metabolism-boosting effects, according to the National Academy of Hypothyroidism.[] Differentiation from other microcytic anemias Iron deficiency anemia must be differentiated from other microcytic anemias (see table Differential Diagnosis of Microcytic Anemia[]

  • Anemia

    ORPHA:1047 Synonym(s): - Prevalence: Unknown Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive or X-linked dominant or Mitochondrial inheritance[] Rare Symptoms In a person with severe hypothyroidism, myxedema may occur.[] The anemia is then categorized as microcytic, macrocytic or normocytic, with or without reticulocytosis.[]

  • Autoimmune Gastritis

    Deficiency of the lactase enzyme may be primary (autosomal recessive) or secondary to disorders of the gastrointestinal tract such as CD.[] Pernicious anemia was present in 25% of patients, iron deficiency anemia was found in 29.7% of patients, hypothyroidism in 23% of patients, type 1 diabetes in 7.9% of patients[] Laboratory findings in autoimmune gastritis by type of anemia Comparing macrocytic anemia in the top row of Table 2 with microcytic anemia at the bottom, there was a stepwise[]

  • Hemochromatosis

    Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism resulting in toxic accumulation of iron in vital organs.[] Over time, people with hereditary hemochromatosis may develop liver cirrhosis, liver cancer, heart disease, diabetes, arthritis, hypothyroidism, and impotence.[] 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[]

  • Megaloblastic Anemia

    The mode of inheritance follows an autosomal recessive pattern and the syndrome was completely reversed by parentral vitamin B12 therapy.[] Abstract Megaloblastic anemia and hypothyroidism, coexisting in relapse simultaneously, were documented in eight women; five patients had primary myxedema; two had secondary[] Recently, she presented with microcytic anemia, and iron deficiency anemia was diagnosed initially.[]

  • Erythropoietic Protoporphyria

    […] effect from the mutant FECH allele. 25 The prevalence of autosomal recessive EPP has not been established.[] Although the patient was slightly hypothyroidic, his liver enzymes returned to normal, his erythrocytic protoporphyrin concentration dropped fivefold, and his skin symptoms[] Microcytic anemia occurs in 20% to 60% of patients. We investigated 178 patients with dominant EPP confirmed by molecular analysis.[]

  • 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[] […] tissue Irregular heartbeat Recurring inflammation of the sac that surrounds the heart Secondary hypopituitarism (dwarfism) Skin darkening Underactivity of the thyroid gland ( hypothyroidism[] The characteristic hypochromic, microcytic anemia typically becomes manifest in the first three decades of life.[]

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