Abstract
IntroductionHemoglobin Q-Iran (α75Asp→His) is an important member of the hemoglobin Q family, molecularly characterized by the replacement of aspartic acid by histidine. The first report of hemoglobin Q-Iran and the nomenclature of this hemoglobinopathy dates back to 1970. Iran is known as a country with a high prevalence of α- and β-thalassemia and different types of hemoglobinopathy. Many of these variants are yet to be identified as the practice of molecular laboratory techniques is limited in this part of the world. Applying such molecular methods, we report the first hemoglobin Q-Iran cases in Northern Iran.Case presentationAn unusual band was detected in an isoelectric focusing test and cellulose acetate electrophoresis of a sample from a 22-year-old Iranian man from Mazandaran Province. Capillary zone electrophoresis analysis identified this band as hemoglobin Q. A similar band was also detected in his mother's electrophoresis (38 years, Iranian ethnicity). The cases underwent molecular investigation and the presence of a hemoglobin Q-Iran mutation was confirmed by the amplification refractory mutation system polymerase chain reaction method. Direct conventional sequencing revealed a single guanine to cytosine missense mutation (c.226G > C; GAC >CAC) at codon 75 in the α-globin gene in both cases.ConclusionThe wide spectrum and high frequency of nondeletional α-globin mutations in Mazandaran Province is remarkable and seem to differ considerably from what has been found in Mediterranean populations. This short communication reports the first cases of patients with hemoglobin Q found in that region.
Highlights
Hemoglobin Q-Iran (a75Asp®His) is an important member of the hemoglobin Q family, molecularly characterized by the replacement of aspartic acid by histidine
The wide spectrum and high frequency of nondeletional a-globin mutations in Mazandaran Province is remarkable and seem to differ considerably from what has been found in Mediterranean populations
The wide spectrum and high frequency of nondeletional a-globin mutations in Mazandaran Province is remarkable and seems to differ considerably from what has been found in Mediterranean populations [9]
Summary
Different hemoglobinopathies are frequently reported from Northern Iran, but this is the first report of an Hb Q-Iran mutation in members of a family from that region. This report provides a substantial piece of evidence in completing the list of discovered Hb abnormalities on the southern shores of the Caspian Sea. Consent Written informed consent was obtained from the patient and his mother for publication of this case report and any accompanying images. Author details 1Thalassemia Research Center, Mazandaran University of Medical Sciences, Sari, Iran. PR performed the laboratory work and analysis and wrote the case reports. NB carried out the molecular laboratory work. MRM carried out the laboratory work and analysis of the data. HN performed the molecular laboratory work, wrote the molecular section and revised the case reports.
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