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.