TY - JOUR
T1 - Hematological phenotype of the IVS-I-5 (G > C) β-thalassemia mutation and assessment of Iran's national screening criteria
AU - Eshghi, Peyman
AU - Rashidi, Armin
AU - Zadeh-Vakili, Azita
AU - Miri-Moghadam, Ebrahim
PY - 2008/9
Y1 - 2008/9
N2 - In a recent study, we demonstrated that, in the Iranian province of Sistan-Baluchestan (S-B), the IVS-I-5 (G > C) β-thalassemia (β-thal) mutation is highly prevalent. In the present article we report the hematological phenotype as measured in 289 carriers of this mutation. We evaluate the use of MCV and MCH parameters as proposed in Iran's national screening guidelines for use in this province. The Hb A2 cut off of 3.5%, also recommended in the national guidelines, gave 2.7% false negative, as is to be expected due to coexisting elements such as measurement artefacts and δ-thal.
AB - In a recent study, we demonstrated that, in the Iranian province of Sistan-Baluchestan (S-B), the IVS-I-5 (G > C) β-thalassemia (β-thal) mutation is highly prevalent. In the present article we report the hematological phenotype as measured in 289 carriers of this mutation. We evaluate the use of MCV and MCH parameters as proposed in Iran's national screening guidelines for use in this province. The Hb A2 cut off of 3.5%, also recommended in the national guidelines, gave 2.7% false negative, as is to be expected due to coexisting elements such as measurement artefacts and δ-thal.
KW - IVS-I-5 (G > C) mutation
KW - Phenotype/genotype
KW - Screening
KW - β-Thalassemia
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U2 - 10.1080/03630260802341778
DO - 10.1080/03630260802341778
M3 - Article
C2 - 18932068
AN - SCOPUS:54249142124
SN - 0363-0269
VL - 32
SP - 440
EP - 445
JO - Hemoglobin
JF - Hemoglobin
IS - 5
ER -