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Dergiler / Medeniyet Medical Journal / 2019 / Cilt: 34 - Sayı: 4

Heterozygous Beta Chain Variant Hemoglobin Pusan: A Rare Case Report in Turkish Population

Durmus AYAN
Özgür KIRBIYIK
Berk ÖZYILMAZ
Sayfa
396–399
DOI
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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

In addition, clinical and hematological findings of this disease are discussed in the case report.

📌 3 Maddede Bu Makale

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Amaç & Hipotez:The case, detected during routine thalassemia (hemoglobin variant) screening, was a 25-year-old male patient of Turkish origin.
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Temel Bulgular & Veri:Labora-tory findings did not reveal any signs of anemia (iron deficiency, B12 deficiency, etc.).
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Sonuç & Katkı:In addition, clinical and hematological findings of this disease are discussed in the case report.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Özet

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. Labora-tory 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 Hemoglo-bin 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.

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Bu Makaleye Atıf Yap

AYAN, D., KIRBIYIK, Ö., ÖZYILMAZ, B. (2019). Heterozygous Beta Chain Variant Hemoglobin Pusan: A Rare Case Report in Turkish Population. Medeniyet Medical Journal, Cilt: 34 - Sayı: 4, 396–399. https://ajindex.com/articles/283231

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