پديد آورندگان :
Rahimi Zohreh نويسنده , Rezaei Mansour نويسنده , Nagel Ronald L. نويسنده , Muniz Adriana نويسنده
چكيده لاتين :
Background: Single nucleotide mutations in ل1 or ل2 genes produce abnormal ل-chain
hemoglobins. Hemoglobin Q disorders including hemoglobin Q-Iran, hemoglobin Q-Thailand, and
hemoglobin Q-India are important hemoglobin variants. Herein, we report on the presence and
hematologic and molecular features of hemoglobin Q-Iran [ل75 (EF4) Aspپ¨His] in 20 members of
11 families including nine children and hemoglobin Setif [ل94 (G1) Aspپ¨Tyr] in 10 individuals from
five families consisting of five children and their affected parents living in western Iran. Methods: A polymerase chain reaction-RFLP procedure using Ava II restriction enzyme was
designed to confirm the presence of two ل-chain variants. To find the coinheritance with ل-
thalassemia, the presence of deletions of -ل3.7, -ل20.5, --MED, --SEA, and nondeletion defects of
IVSI (-5 bp) and hemoglobin CS was examined using polymerase chain reaction-based approaches.
Results: The mean±SD level of hemoglobin Q-Iran was 20.4±4.4%. Three out of 18 individuals
with hemoglobin Q-Iran were heterozygous for -ل3.7 deletion (-ل3.7/لل). The coinheritance of
hemoglobin Q-Iran and -ل3.7 deletion resulted in significantly (P=0.002) higher levels of
hemoglobin Q-Iran (26.7±3.8 %). In those heterozygous for hemoglobin Setif, the level of this
hemoglobin was 17.8±5.6 %.
Conclusion: The polymerase chain reaction-RFLP method described here is a simple, rapid,
and inexpensive procedure for the diagnosis of abnormal ل-chains in developing countries.
