TY - JOUR
T1 - α-thalassemia mutation analyses in mazandaran province, north iran
AU - Tamaddoni, Ahmad
AU - Hadavi, Valeh
AU - Nejad, Nima Hafezi
AU - Khosh-Ain, Atefeh
AU - Siami, Rita
AU - Aghai-Meibodi, Jaiil
AU - Almadani, Navid
AU - Oberkanins, Christian
AU - Law, Hai Yang
AU - Najmabadi, Hossein
PY - 2009
Y1 - 2009
N2 - Two hundred and fifty-five patients from Mazandaran Province, Iran, all presenting with hypochromic and microcytic anemia, were selected for α-thalassemia (α-thal) mutation screening. We detected a total of 274 a-globin mutations in 227 (89%) of tliese patients. Among the 21 different a-globin alleles found, tlie-α3.7 (44.9%), polyadenylalion signal 2 (poly A2) (AATAAA>AATGAA) (18.2%), -α4-2 (9.1%), αlvs-"!nl) (6.5%), - -Mm (4.3%), and αcodon 19(-G) (4%) were the most frequent. Tlie other 15 mutations included variants that had not yet been observed in Iran, such as Hb Bbmland [αl08(G15)Thr→Asn, ACC>AAC (α2)], as well as a novel mutation on the α2 gene, also not described to date [3' untranslated region (3'UTR) nucleotide (nt) 46 (C>A)J. These comprehensive new data are useful for establishing a screening strategy for tlie effective control of a-thal in Mazandaran Province. copy;Informa Healthcare USA, Inc.
AB - Two hundred and fifty-five patients from Mazandaran Province, Iran, all presenting with hypochromic and microcytic anemia, were selected for α-thalassemia (α-thal) mutation screening. We detected a total of 274 a-globin mutations in 227 (89%) of tliese patients. Among the 21 different a-globin alleles found, tlie-α3.7 (44.9%), polyadenylalion signal 2 (poly A2) (AATAAA>AATGAA) (18.2%), -α4-2 (9.1%), αlvs-"!nl) (6.5%), - -Mm (4.3%), and αcodon 19(-G) (4%) were the most frequent. Tlie other 15 mutations included variants that had not yet been observed in Iran, such as Hb Bbmland [αl08(G15)Thr→Asn, ACC>AAC (α2)], as well as a novel mutation on the α2 gene, also not described to date [3' untranslated region (3'UTR) nucleotide (nt) 46 (C>A)J. These comprehensive new data are useful for establishing a screening strategy for tlie effective control of a-thal in Mazandaran Province. copy;Informa Healthcare USA, Inc.
KW - α-thalassemia (othal)
KW - Iran
KW - Mazandaran province
KW - Mutation
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U2 - 10.1080/03630260902817297
DO - 10.1080/03630260902817297
M3 - Article
C2 - 19373587
AN - SCOPUS:67449098137
SN - 0363-0269
VL - 33
SP - 115
EP - 123
JO - Hemoglobin
JF - Hemoglobin
IS - 2
ER -