Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension with pigeon chest deformity

Ayman A. El-Sheikh, Hasan Hashem, Carol Holman, Yatin M. Vyas

Research output: Contribution to journalArticlepeer-review

6 Scopus citations

Abstract

Congenital dyserythropoietic anemia (CDA) type-1 is a rare genetic disorder of ineffective erythropoiesis, which manifests in macrocytic anemia. We report a CDA1 patient who as a newborn presented with macrocytic anemia and persistent pulmonary hypertension of the newborn (PPHN) requiring mechanical ventilation. Post-infancy, the patient developed acral dysmorphism and pectus excavatum the latter rarely found in CDA1. Patient is a compound heterozygote for a known maternal-derived missense-mutation (c.1796A>G/p.Asn589Ser) and a novel paternal-derived deletion-mutation (c.1104_1106del/Phe365del) in CDAN1. This report highlights the importance of recognizing PPHN as a presenting symptom of CDA1 and expands the repertoire of the accompanying mutations and axial skeletal malformations.

Original languageEnglish (US)
Pages (from-to)1460-1462
Number of pages3
JournalPediatric Blood and Cancer
Volume61
Issue number8
DOIs
StatePublished - Aug 2014

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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