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Journals / Turkish Journal of Hematology / 2017 / Cilt: 34 - Sayı: 3

Azerbaycan Popülasyonunda ?-Talasemi Mutasyonlarının Genotip-Fenotip Korelasyonları

Genotype-Phenotype Correlations of ?-Thalassemia Mutations in an Azerbaijani Population

Chingiz ASADOV
Eldar ABDULALİMOV
Tahira MAMMADOVA
Surmaya GAFAROVA
Yegana GULİYEVA
Gunay ALİYEVA
Pages
258–263
DOI
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AI Summary & Key Takeaways

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

These data can be of assistance to predict clinical presentation and select the best possible therapeutic approach via early genotype identification.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:?-Thalassemia is the most common inherited disorder in Azerbaijan.
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Key Findings & Data:Patients with codon 8 (-AA), IVS-I-6 (T>C), and IVS-II-1 (G>A) mutations, which are reportedly the most common ?-globin gene mutations among the local population, were tested for hematologic parameters.
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Conclusion & Impact:These data can be of assistance to predict clinical presentation and select the best possible therapeutic approach via early genotype identification.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

?-Thalassemia is the most common inherited disorder in Azerbaijan. The aim of our study was to reveal genotype-to-phenotype correlations of the most common ?-thalassemia mutations in an Azerbaijani population. Patients with codon 8 (-AA), IVS-I-6 (T>C), and IVS-II-1 (G>A) mutations, which are reportedly the most common ?-globin gene mutations among the local population, were tested for hematologic parameters. Fifty-five previously tested patients with known genotypes were included in the study. Hematologic indices and hemoglobin fractions were tested in order to reveal the phenotypic manifestation of the mutations. The results obtained indicate that clinical presentation varies between different ?-globin gene mutations: individuals with IVS-I-6 (T>C) mutations showed milder presentation than those with codon 8 (-AA) and IVS-II-1 (G>A), which is associated with the molecular basis of the mutations. These data can be of assistance to predict clinical presentation and select the best possible therapeutic approach via early genotype identification.

Özet

?-Talasemi Azerbaycan'da görülen en sık kalıtsal hastalıktır. Çalışmamızın amacı Azerbaycan popülasyonunda en sık görülen ?-talasemi mutasyonlarının genotip-fenotip korelasyonlarının ortaya çıkarılmasıydı. Yerel popülasyonda en sık görülen ?-globin gen mutasyonları olan kodon 8 (-AA), IVS-I-6 (T>C) ve IVS-II-1 (G>A) mutasyonlarını taşıyan hastalar hematolojik parametreler açısından değerlendirildi. Daha önceden test edilmiş ve genotipik özellikleri bilinen 55 hasta çalışmaya dahil edildi. Mutasyonların fenotipik manifestasyonlarının gösterilmesi için hematolojik indeksler ve hemoglobin fraksiyonlarına bakıldı. Sonuçlar farklı ?-globin gen mutasyonları arasında klinik başvuru açısından farklılıklar olduğunu göstermekteydi: IVS-I-6 (T>C) mutasyonu olan bireylerde hastalık kodon 8 (-AA) ve IVS-II-1 (G>A) mutasyonu olanlara göre daha hafif seyretmekteydi. Erken genotipik tanımlama klinik başvuru özelliklerinin tahmin edilmesine ve hastalara en iyi terapötik yaklaşımların uygulanmasına yardımcı olabilir.

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Cite This Article

ASADOV, C., ABDULALİMOV, E., MAMMADOVA, T., GAFAROVA, S., GULİYEVA, Y., ALİYEVA, G. (2017). Azerbaycan Popülasyonunda ?-Talasemi Mutasyonlarının Genotip-Fenotip Korelasyonları. Turkish Journal of Hematology, Cilt: 34 - Sayı: 3, 258–263. https://ajindex.com/articles/412749

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References (17)

  1. Modell B, Darlison M. Global epidemiology of haemoglobin disorders and derived service indicators. Bull World Health Organ 2008;86:480-487
  2. Weatherall DJ. Genetic variation and susceptibility to infection: the red cell and malaria. Br J Haematol 2008;141:276-286
  3. Hardison RC, Chui DH, Giardine B, Riemer C, Patrinos GP, Anagnou N, Miller W, Wajcman H. HbVar: a relational database of human hemoglobin variants and thalassemia mutations at the globin gen server. Hum Mutat 2002;19:225-233
  4. Weatherall DJ. The inherited diseases of hemoglobin are an emerging global health burden. Blood 2010;115:4331-4336
  5. Kuliev AM, Rasulov IM, Dadasheva T, Schwarz EI, Rosatelli C, Saba L, Meloni A, Gemidjioglu E, Petrou M, Modell B. Thalassaemia in Azerbaijan. J Med Genet 1994;31:209-212
  6. Rustamov RSh, Gaibov NT, Akhmedova Alu, Gulieva NM. Incidence of hereditary hemoglobinopathies in Azerbaijan. Probl Gematol Pereliv Krovi 1981;9:12-16
  7. Gadzhiev EG, Rustamov RSh, Asadov ChD, Mamedova TA, Dzhafarov FM, Kulieva ED. Heterozygote carrier state of hemoglobin S in Azerbaijan. Gematol Transfuziol 1991;7:16-18
  8. Shirinova EA, Akhundova AM, Tokarev luN, Khollan S, Selen'i Iu. Hemoglobin E in the Azerbaijan population. Probl Gematol Pereliv Krovi 1981;9:51-53
  9. Weatherall D, Clegg J. The Thalassemia Syndromes, 3rd ed. Oxford, WileyBlackwell, 1981
  10. Galanello R, Origa R. Beta-thalassemia. Orphanet J Rare Dis 2010;5:11
  11. Weatherall DJ. Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nat Rev Genet 2001;2:245-255
  12. Sankaran VG, Lettre G, Orkin SH, Hirschhorn JN. Modifier genes in Mendelian disorders: the example of hemoglobin disorders. Ann NY Acad Sci 2010;1214:47-56
  13. Rund D, Filon D, Strauss N, Rachmilewitz EA, Oppenheim A. Mean corpuscular volume of heterozygotes for beta-thalassemia correlates with the severity of mutations. Blood 1992;79:238-243
  14. Bianco I, Cappabianca MP, Foglietta E, Lerone M, Deidda G, Morlupi L, Grisanti P, Ponzini D, Rinaldi S, Graziani B. Silent thalassemias: genotypes and phenotypes. Haematologica 1997;82:269-280
  15. Danjou F, Anni F, Galanello R. Beta-thalassemia: from genotype to phenotype. Haematologica 2011;96:1573-1575
  16. Galanello R, Perseu L, Satta S, Demartis FR, Campus S. Phenotype-genotype correlation in ?-thalassemia. Thalas Rep 2011;1:6
  17. Sahu PK, Pati SS, Mishra SK. Genotype-phenotype correlation of ?-thalassemia spectrum of mutations in an Indian population. Hemato