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

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

Pages
396–399
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

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.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:The case, detected during routine thalassemia (hemoglobin variant) screening, was a 25-year-old male patient of Turkish origin.
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Key Findings & Data:Labora-tory findings did not reveal any signs of anemia (iron deficiency, B12 deficiency, etc.).
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Conclusion & Impact: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.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

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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Cite This Article

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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References (1)

  1. Taher AT, Weatherall DJ, Cappellini MD. Thalassaemia. Lancet. 2018;391:155-67. [CrossRef] 2. Yun YM, Ji M, Ko DH, et al. Hb variants in Korea: effect on HbA1c using five routine methods. Clin Chem Lab Med.2017;55:1234-42. [CrossRef] 3. Sabath DE. Molecular Diagnosis of Thalassemias and He-moglobinopathies: An ACLPS Critical Review. Am J Clin Pathol. 2017;148:6-15. [CrossRef] 4. Canatan D. Thalassemias and hemoglobinopathies in Tur-key. Hemoglobin. 2014;38:305-7. [CrossRef] 5. Akar N. An updated review of abnormal hemoglobins in the Turkish population. Tur J Hematol. 2014;31:97-8. [CrossRef] 6. Wajcman H, Moradkhani K. Abnormal haemoglo-bins: detection & characterization. Indian J Med Res. 2011;134:538. 7. Murthy S, Benavides R. A rare hemoglobin variant, Hb Belliard. Proceedings. 2017;30:184-5. [CrossRef] 8. Keren DF, Shalhoub R, Gulbranson R, et al. Expression of hemoglobin variant migration by capillary electrophore-sis relative to hemoglobin A2 improves precision. Am J Clin Pathol. 2012;137:660-4. [CrossRef] 9. Harano T, Harano K, Kushida Y, et al. [beta 146(HC3)His----Gln]: a new beta chain variant with an amino acid sub-stitution at the C-terminus. Hemoglobin. 1992;16:85-91. [CrossRef] 10. Perutz MF, Fermi G, Shih TB. Structure of deoxyhemoglo-bin Cowtown [His HC3(146) beta----Leu]: origin of the alkaline Bohr effect and electrostatic interactions in he-moglobin. Proc. Natl. Acad. Sci U S A.1984;81:4781-4. [CrossRef] 11. Russu IM, Ho C. Assessment of role of beta 146-histidyl and other histidyl residues in the Bohr effect of human normal adult hemoglobin. Biochem. 1986;25:1706-16. [CrossRef] 12. Bare GH, Bromberg PA, Alben JO, et al. Altered C-termi-nal salt bridges in haemoglobin York cause high oxygen affinity. Nature. 1976;259:155-6. [CrossRef] 13. Ivaldi G, David O, Paradossi V, et al. Hb Bologna-St. Or-sola [beta146(HC3)His-->Tyr]: a new high oxygen affin-ity variant with halved Bohr effect and highly reduced reactivity towards 2,3-diphosphoglycerate. Hemoglobin. 1999;23:353-9. [CrossRef] 14. Imai K. Oxygen-equilibrium characteristics of abnormal hemoglobin Hiroshima (alpha-2 beta-2 143 Asp). Arch Biochem Biophys. 1968;127:543-7. [CrossRef] 15. Hamilton HB, Iuchi I, Miyaji T, et al. Hemoglobin Hiroshi-ma (beta-143 histidine--aspartic acid): a newly identified fast moving beta chain variant associated with increased oxygen affinity and compensatory erythremia. J Clin In-vest. 1969;48:525-35. [CrossRef]