Homozygous Hemoglobin Abruzzo in a North American child

Lakshmi Venkateswaran, Kenneth C. Swanson, James D. Hoyer

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

Hemoglobin Abruzzo is a stable hemoglobin variant with increased oxygen affinity, clinically causing compensatory erythrocytosis in affected patients. Heterozygosity of this variant with or without β-thalassemia has been previously described in three Italian families, thereby suggesting a single origin of the mutation. The authors report the first case of homozygosity in a North American female infant, born to heterozygous parents as a product of consanguineous marriage.

Original languageEnglish (US)
Pages (from-to)618-620
Number of pages3
JournalJournal of Pediatric Hematology/Oncology
Volume27
Issue number11
DOIs
StatePublished - Nov 1 2005

Keywords

  • Erythrocytosis
  • Hemoglobin Abruzzo
  • High oxygen affinity

ASJC Scopus subject areas

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

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