Compound heterozygous Hb Tak/Hb E causes secondary erythrocytosis in a Thai family.
Hb Tak is a rare cause of secondary erythrocytosis. It results from the insertion of two nucleotides (AC) at the termination codon between codon 146 and codon 147 of the beta-globin gene. This insertion causes a frameshift in the terminating codon 147 resulting in an elongated beta chain with an impaired formation of the T-state. We report a Thai family with a compound heterozygosity for Hb Tak [beta147 (+ AC)] and Hb E [beta26(B8)Glu-->Lys] which displayed an asymptomatic erythrocytosis.
Teawtrakul
Nattiya
N
Hematology Division, Department of Internal Medicine, Srinagarind hospital, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand. nattiya@kku.ac.th
Sirijirachai
Chittima
C
Chansung
Ganjana
G
Fucharoen
Goonnapa
G
D005260:Female; D006261:Headache / Q000209:etiology; D006446:Hemoglobin E / Q000737:chemistry / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000737:chemistry / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010100:Oxygen / Q000097:blood; D010375:Pedigree; D011086:Polycythemia / Q000150:complications / Q000235:genetics*; D013785:Thailand; D055815:Young Adult; D055544:beta-Globins / Q000737:chemistry / Q000235:genetics
D006455:Hemoglobins, Abnormal; D055544:beta-Globins; C111400:hemoglobin Tak; D006446:Hemoglobin E; D010100:Oxygen