AnatomyDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and Processes
Anemia, Dyserythropoietic, CongenitalAnemia, Hemolytic, CongenitalAnemiaErythroblastsAnemia, MacrocyticErythrocytes, AbnormalErythropoiesisSplenectomyIron OverloadAnion Exchange Protein 1, ErythrocyteVesicular Transport ProteinsPedigreeErythrocyte MembraneAnemia, AplasticAnemia, HemolyticBone MarrowErythrocytes

A case of congenital dyserythropoietic anemia type 1 in a Japanese adult with a CDAN1 gene mutation and an inappropriately low serum hepcidin-25 level. (49/81)

We describe the first case of genetically diagnosed congenital dyserythropoietic anemia (CDA) type 1 in a Japanese man. The patient had hemolytic anemia since he was a child, and he developed diabetes, hypogonadism, and liver dysfunction in his thirties, presumably from systemic iron overload. When he was 48 years old a diagnosis was finally made by genetic analysis that revealed a homozygous mutation of CDAN1 gene (Pro1129Leu). His serum hepcidin-25 level was inappropriately low. We conclude that physicians should be aware of the possibility of CDA in a patient with anemia and systemic iron overload at any age.  (+info)

The COPII pathway and hematologic disease. (50/81)

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Congenital dyserythropoietic anaemia type II: a rare entity. (51/81)

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Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach. (52/81)

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Efficacy of anti-IL-1 treatment in Majeed syndrome. (53/81)

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Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II. (54/81)

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Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23. (55/81)

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Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. (56/81)

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