A case of congenital dyserythropoietic anemia type IV

A case of congenital dyserythropoietic anemia type IV

Key Clinical Message Congenital dyserythropoietic anemias (CDAs) are displayed by ineffective erythropoiesis. The wide variety of phenotypes observed in CDA patients makes differential diagnosis difficult; identification of the genetic variants is crucial in clinical management. We report the fifth...

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Veröffentlicht in:Clinical case reports 2017-03, Vol.5 (3), p.248-252
Hauptverfasser: Iglesia‐ Iñigo, Silvia, Moreno‐Carralero, María‐Isabel, Lemes‐Castellano, Angelina, Molero‐Labarta, Teresa, Méndez, Manuel, Morán‐Jiménez, María‐José
Format: Artikel
Sprache:eng
Schlagworte:
Anemia
Blood
Blood transfusions
Bone marrow
Case Report
Case Reports
Congenital diseases
Congenital dyserythropoietic anemia
Dehydrogenases
Females
Genes
Hemoglobin
Iron
KLF1 gene
Morphology
next generation sequencing
Patients
Twins
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Zusammenfassung:Key Clinical Message Congenital dyserythropoietic anemias (CDAs) are displayed by ineffective erythropoiesis. The wide variety of phenotypes observed in CDA patients makes differential diagnosis difficult; identification of the genetic variants is crucial in clinical management. We report the fifth case of a patient with unclassified CDAs, after genetic study, with CDA type IV. Congenital dyserythropoietic anemias (CDAs) are displayed by ineffective erythropoiesis. The wide variety of phenotypes observed in CDA patients makes differential diagnosis difficult; identification of the genetic variants is crucial in clinical management. We report the fifth case of a patient with unclassified CDAs, after genetic study, with CDA type IV.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.825