alpha-Thalassemia mutation analyses in Mazandaran province, North Iran.
Two hundred and fifty-five patients from Mazandaran Province, Iran, all presenting with hypochromic and microcytic anemia, were selected for alpha-thalassemia (alpha-thal) mutation screening. We detected a total of 274 alpha-globin mutations in 227 (89%) of these patients. Among the 21 different alpha-globin alleles found, the -alpha(3.7) (44.9%), polyadenylation signal 2 (poly A2) (AATAAA>AATGAA) (18.2%), -alpha(4.2) (9.1%), alpha(IVS-I(-5 nt)) (6.5%), - -(MED) (4.3%), and alpha(codon 19 (-G)) (4%) were the most frequent. The other 15 mutations included variants that had not yet been observed in Iran, such as Hb Bleuland [alpha108(G15)ThrAsn, ACC>AAC (alpha2)], as well as a novel mutation on the alpha2 gene, also not described to date [3 ' untranslated region (3 'UTR) nucleotide (nt) 46 (C>A)]. These comprehensive new data are useful for establishing a screening strategy for the effective control of alpha-thal in Mazandaran Province.
Tamaddoni
Ahmad
A
Amirkola Thalassemia Center, Babol University of Medical Science, Babol, Iran.
Hadavi
Valeh
V
Nejad
Nima Hafezi
NH
Khosh-Ain
Atefeh
A
Siami
Rita
R
Aghai-Meibodi
Jalil
J
Almadani
Navid
N
Oberkanins
Christian
C
Law
Hai-Yang
HY
Najmabadi
Hossein
H
D004252:DNA Mutational Analysis; D005820:Genetic Testing; D006403:Hematologic Tests; D006801:Humans; D007492:Iran / Q000453:epidemiology; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000453:epidemiology* / Q000235:genetics*
D055542:alpha-Globins