[Molecular evaluation of hemoglobin D mutations in Mazandaran province, Iran]
Journal of Gorgan University of Medical Sciences. 2013; 15 (2): 65-69
in Persian
| IMEMR
| ID: emr-147890
ABSTRACT
Hemoglobinopathies are among the most prevalent genetic disorders worldwide, and occur as a result of mutations in the gene involved in synthesizing hemoglobin chains. By now more than 1000 defects in hemoglobin chains are discovered. Hemoglobin D [Hb D] is one of these disorders, identified by a single nucleotide mutation on codon 121 of beta globin chain. This study was carried out to evaluate Hb D mutations through molecular methods in Mazandaran province of Iran. This descriptive laboratory study was done on 70 patients with an electrophoresis band in hemoglobin-S zone in Mazandaran province of Iran during 2010-11. Capillary zone electrophoresis was done to find out Hb D in 51 patients. Subsequently, PCR-RFLP was performed to evaluate the samples at molecular level. Molecular investigation revealed all cases are carriers of hemoglobin D-Punjab. Two patients were shown to be homozygote carriers of the abnormal gene. This study showed all Hb D affected patients were carriers of Hb D Punjab
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Index:
IMEMR (Eastern Mediterranean)
Language:
Persian
Journal:
J. Gorgan Univ. Med. Sci.
Year:
2013
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