Homozygous hemoglobin Tak causes symptomatic secondary polycythemia in a Thai boy

J Pediatr Hematol Oncol. 2003 Mar;25(3):261-5. doi: 10.1097/00043426-200303000-00016.

Abstract

Secondary polycythemia caused by high-oxygen-affinity hemoglobin is rare in children. Most patients with this condition have asymptomatic erythrocytosis. In this article the authors describe a young boy from Thailand with plethora, hypoxemia, and aggravated respiratory distress following a chest infection. Hematological and molecular studies revealed that the boy is homozygous for Hb Tak, an extended beta-globin variant with high oxygen affinity. This report of a patient who is homozygous for high-oxygen-affinity hemoglobin highlights the clinical significance of this hemoglobin disorder, which has been previously reported in several unrelated families from Southeast Asia.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Hemoglobins, Abnormal / genetics*
  • Homozygote
  • Humans
  • Male
  • Oxygen / blood
  • Polycythemia / blood
  • Polycythemia / etiology*

Substances

  • Hemoglobins, Abnormal
  • hemoglobin Tak
  • Oxygen