A rare association of alphaO-thalassemia (--SEA) and an initiation codon mutation (ATG-->A-G) of the alpha2 gene causes Hb H disease in Thailand.
Several rare and hitherto unidentified non deletional alpha-thalassemias (alphaTalpha or alphaalphaT) have been reported from Thailand within the past few years. Interactions of these determinants with alphaO-thalassemia (thal) (--/), which is highly prevalent in this region, give rise to various genotypes (--/ alphaTalpha or --/alphaalphaT) underlying Hb H disease. We report herein the interaction of a rare initiation codon mutation of the alpha2 gene and alphaO-thal in a Thai boy with Hb H disease. This finding highlights a wide variety of molecular pathology of the alpha-globin genes underlying alpha-thal syndrome in Southeast Asia.
Viprakasit
Vip
V
Department of Paediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand. sivvp@mahidol.ac.th
Chinchang
Worrawut
W
Glomglao
Waraporn
W
Tanphaichitr
Voravarn S
VS
D000328:Adult; D002648:Child; D002675:Child, Preschool; D018387:Codon, Initiator / Q000235:genetics*; D005260:Female; D005914:Globins / Q000032:analysis / Q000235:genetics*; D006447:Hemoglobin H / Q000032:analysis; D006801:Humans; D008297:Male; D013785:Thailand; D017085:alpha-Thalassemia / Q000097:blood / Q000235:genetics*
D018387:Codon, Initiator; D005914:Globins; D006447:Hemoglobin H