Open AccessHeterozygous Beta Chain Variant Hemoglobin Pusan: A Rare Case Report in Turkish Population
Author(s) -
Durmuş Ayan,
Özgür Kırbıyık,
Berk Özyılmaz
Publication year - 2019
Publication title -
medeniyet medical journal
Language(s) - Uncategorized
Resource type - Journals
eISSN - 2149-2042
pISSN - 2149-4606
DOI - 10.5222/mmj.2019.10476
Subject(s) - hemoglobin , turkish population , medicine , hemoglobin variants , thalassemia , population , gastroenterology , anemia , hemoglobinopathy , hemolytic anemia , genetics , biology , genotype , environmental health , gene
The case, detected during routine thalassemia (hemoglobin variant) screening, was a 25-year-old male patient of Turkish origin. Physical examination revealed no abnormal findings. Laboratory findings did not reveal any signs of anemia (iron deficiency, B12 deficiency, etc.). However, when the hemoglobin variant report was being evaluated, it was found that besides the normal hemoglobin peaks, there was another peak that had not been defined before. The sample was sent to genetic analysis for verification with the suspicion of an unknown hemoglobin variant. According to the genetic analysis, the unknown hemoglobin variant was found to be Hemoglobin Pusan (Hb Pusan). The aim of this study is to give information about a hemoglobin variant which is rarely seen in Turkish population and to raise awareness about this hemoglobin variant. In addition, clinical and hematological findings of this disease are discussed in the case report.