Alpha-thalassemia major presenting in a term neonate without hydrops

Sara E. Monaco, Mary Davis, Ay Chyn Huang, Govind Bhagat, Rebecca N. Baergen, John M. Lorenz, Wendy K. Chung, Harshwardhan Thaker

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

Abstract

We describe the clinical and pathologic features of an unusual case of alpha-thalassemia major in a patient who survived to term and lived for 9 days. The neonate was nonhydropic and the clinical picture was dominated by severe hypoxia with pulmonary hypertension. The diagnosis was not suspected until postnatal examination of the blood smear, which prompted the performance of hemoglobin electrophoresis and subsequent molecular confirmation. This case illustrates that alpha-thalassemia major should be in the differential diagnosis of hypoxic neonates even in the absence of hydrops.

Original languageEnglish (US)
Pages (from-to)706-709
Number of pages4
JournalPediatric and Developmental Pathology
Volume8
Issue number6
DOIs
StatePublished - Dec 1 2005
Externally publishedYes

Keywords

  • Alpha-thalassemia major
  • Hemoglobin Bart
  • Hydrops fetalis
  • Thalassemia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine

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