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• W1997566350 abstract "One hundred and three patients from Gilan Province, Iran, presenting with hypochromic and microcytic anemia parameters without iron deficiency were included in this study. Using gap-polymerase chain reaction (gap-PCR), reverse hybridization StripAssay and DNA sequencing, we detected a total of 113 α-globin mutations in 94 (91.3%) of these patients. Most prevalent of the 16 different α-thalassemia (α-thal) alleles was −α3.7 (42.5%), followed by the polyadenylation signal (poly A2) (AATAAA>AATGAA) (12.4%), Hb Constant Spring [Hb CS, α142, Term→Gln (TAA>CAA in α2] (10.6%), – –MED (8.8%), IVS-I donor site [GAG GTG AGG>GAG G– – – – –, α−5 nt (−TGAGG)] (7.1%), −α4.2 (4.4%) and poly A1 (AATAAA>AATAAG) (3.5%). An additional nine mutations were observed at frequencies below 2%. We also found two novel α1 gene mutations: α−9 (HBA1: c.−9 G>C) and αIVS-I-4 (HBA1: c.95+4 A>G). Our new findings will be valuable for improving targeted thalassemia screening and prevention strategies in this area." @default.
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• W1997566350 date "2009-01-01" @default.
• W1997566350 modified "2023-09-27" @default.
• W1997566350 title "α-Thalassemia Mutations in Gilan Province, North Iran" @default.
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• W1997566350 doi "https://doi.org/10.1080/03630260903089029" @default.
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