A Very Rare Congenital Dyserythropoietic Anemia Variant-Type IV in a Patient With a Novel Mutation in the KLF1 Gene: A Case Report and Review of the Literature


Belgemen-Ozer T., Gorukmez O.

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, cilt.42, 2020 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 42 Konu: 6
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1097/mph.0000000000001727
  • Dergi Adı: JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Özet

Congenital dyserythropoietic anemias comprise a group of very rare hereditary disorders characterized by ineffective erythropoiesis and distinct morphologic abnormalities of the erythroblasts in the bone marrow. The wide variety of phenotypes observed in these patients makes the diagnosis difficult; identification of the genetic variants is crucial in differential diagnosis and clinical management. We report the nineth case with congenital dyserythropoietic anemia type IV, with a novel mutation that has not been reported before.