Homozygous hemoglobin Tak causes symptomatic secondary polycythemia in a Thai boy.
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.
Tanphaichitr
Voravarn S
VS
Division of Hematology-Oncology, Department of Pediatrics and Clinical Pathology, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Viprakasit
Vip
V
Veerakul
Gavivann
G
Sanpakit
Kleebsabai
K
Tientadakul
Panutsaya
P
D002675:Child, Preschool; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D010100:Oxygen / Q000097:blood; D011086:Polycythemia / Q000097:blood / Q000209:etiology*
D006455:Hemoglobins, Abnormal; C111400:hemoglobin Tak; D010100:Oxygen