Identification of Hb Q-India (alpha64 Asp-->His) in Thailand.
More than 30 different hemoglobin variants either affecting alpha or beta globin chains have been identified in Thailand. The large variety in the different forms of hemoglobinopathy contributes to several complicated interactions, since different types of defective globin alleles are prevalent in Thailand and nearly 30-40% of the population are carriers of either alpha or beta thalassemia (thal). Many rare and novel abnormal globin variants in Thai subjects have been identified in our laboratory within the past few years; including Hb Lepore-Hollandia, homozygous Hb Tak, Hb Dhonburi, Hb G-Makassar, Hb G-Coushatta, Hb New York, Hb Paksè and Hb Pak Num Po. In addition to these, here we report, for the first time, the identification of Hb Q-India, an innocuous alpha globin variant, in a Thai family with Indian ancestry. This report highlights the complexity associated with identifying unknown globin variants within a population that has a heterogeneous repertoire of globin chain disorders.
Viprakasit
Vip
V
Department of Pediatrics-Siriraj Thalassemia Research Program and WHO Collaborating Center for the Control of Hemoglobinopathies, Siriraj Hospital, Mahidol University, Bangkok, Thailand. Vip@hammer.imm.oxac.uk
Chinchang
Worrawut
W
Pung-Amritt
Parichat
P
Tanphaichitr
Voravarn S
VS
D019943:Amino Acid Substitution; D001483:Base Sequence; D002675:Child, Preschool; D017931:DNA Primers; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D019105:Random Amplified Polymorphic DNA Technique; D013785:Thailand
D017931:DNA Primers; D006455:Hemoglobins, Abnormal; C048600:hemoglobin Q India