Homozygous hemoglobin Tak causes symptomatic secondary polycythemia in a Thai boy.

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.

• Authors: Voravarn S Tanphaichitr, Vip Viprakasit, Gavivann Veerakul, Kleebsabai Sanpakit, Panutsaya Tientadakul
• Journal: Journal of pediatric hematology/oncology (J Pediatr Hematol Oncol) Vol. 25 Issue 3 Pg. 261-5 (Mar 2003) ISSN: 1077-4114 [Print] United States
• PMID: 12621249 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Hemoglobins, Abnormal
• hemoglobin Tak
• Oxygen

Topics

• Child, Preschool
• Hemoglobins, Abnormal (genetics)
• Homozygote
• Humans
• Male
• Oxygen (blood)
• Polycythemia (blood, etiology)