title: Hb Agenogi [β90(F6)Glu→Lys (GAG>AAG) HBB: c.271G>A)] in a Pregnant Thai Woman.
abstract: Hb Agenogi [β90(F6)Glu→Lys (GAG>AAG) HBB: c.271G>A)] is a very rare β-globin chain variant. We report for the first time this hemoglobinopathy in a pregnant 20-year-old Thai woman. She was seen by an obstetrician at her 14th week of gestation. She was pale and had an inflammatory lesion of her lower left leg. The hemoglobin (Hb) analysis by high performance liquid chromatography (HPLC) and low pressure liquid chromatography (LPLC) showed a peak of abnormal Hb at the C window. On capillary electrophoresis (CE), the abnormal Hb peak was observed at electrophoretic zone 4 that corresponded to the Hb E (HBB: c.79G>A) peak. Direct DNA sequencing revealed a GAG>AAG mutation at codon 90 of the β-globin gene. Thus, even though Hb Agenogi is very rare, it can be found in Thai people. The knowledge and understanding of this hemoglobinopathy will be used to assist in diagnosis, management and counseling for patients.
authors: a School of Allied Health Sciences, University of Phayao , Phayao , Thailand .
authors: Sitthichai
authors: S
authors: Panyasai
authors: b Department of Medical Technology , Chiang Rai Prachanukroh Hospital , Chiang Rai , Thailand .
authors: Pollawat
authors: P
authors: Thongsuk
authors: c Department of Medical Technology , Faculty of Associated Medical Sciences, Chiang Mai University , Chiang Mai , Thailand.
authors: Sakorn
authors: S
authors: Pornprasert
mesh_terms: D019943:Amino Acid Substitution; D002851:Chromatography, High Pressure Liquid; D003062:Codon; D004252:DNA Mutational Analysis; D005260:Female; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D009154:Mutation; D011247:Pregnancy; D013785:Thailand; D055815:Young Adult
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; C057245:hemoglobin Agenogi
keywords: Capillary electrophoresis (CE); Hb Agenogi; Thai; diagnosis; high performance liquid chromatography (HPLC); low pressure liquid chromatography (LPLC)