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CC BY 4.0 · Glob Med Genet 2021; 08(02): 069-071
DOI: 10.1055/s-0041-1726336
Original Article

The Story of a Ship Journey, Malaria, and the HBB Gene IVS-II-745 Mutation: Circassian Immigration to Cyprus

Mahmut C. Ergoren 
1   Department of Medical Genetics, Faculty of Medicine, Near East University, Nicosia, Cyprus
2   Rare Diseases Research Group, DESAM Institute, Near East University, Nicosia, Cyprus
,
Sehime G. Temel 
3   Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey
,
Gamze Mocan 
1   Department of Medical Genetics, Faculty of Medicine, Near East University, Nicosia, Cyprus
4   Department of Medical Pathology, Faculty of Medicine, Near East University, Nicosia, Cyprus
,
Munis Dundar 
5   Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey
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Abstract

Background During 19th century, the Circassians were secluded from their lands and forced to migrate to Ottoman Empire properties. Approximately 2,346 Circassians were exiled from Istanbul to Cyprus Island. During the deportation journey, many of Circassian passed away in consequence of malaria and unknown reasons. Overall, 1,351 survivor Circassians managed to reach the island, however, many of them had faced with endemic malaria again in Cyprus. An autosomal recessive hematological disorder thalassemia was the second endemic health condition after malaria, whereas thalassemia carriers show resistance to malaria infections.

Materials and Methods A large Cypriot family with 57 members whose grandparents were supposed to be in that ship journey has been investigated in this study. Polymerase chain reaction (PCR)–amplification refractory mutation system (ARMS) analysis technique was used for genotyping the HHB gene.

Results The human β-globin (HBB) gene c.316–106C > G (IVS-II-745) (II-745) heterozygous variation have been detected.

Conclusion Overall, this study is a very good example for a typical natural selection. In this case, one single gene point mutation did not limit survival in the society; natively, it increased their survival changes to form new colonization and the inheritance of the mutation to the next generations.

Keywords

Circassians - β-thalassemia - IVS-II-745 - Cyprus - malaria - genetic fitness


Publication History

Article published online:
16 March 2021

© 2021. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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  • References

  • 1 Abreg A. Geçmişten Günümüze Kafkasların Trajedisi. Istanbul: Kafkas Vakfi Yayinlari; 2006: 43
    Google Scholar
  • 2 Allen WED. Muratoff P. 1828–1921 Türk-Kafkas Sınırındaki Harplerin Tarihi. Genelkurmay Başkanlığı Yayınları. Ankara, Turkey: Genelkurmay Başkanlığı; 1966: 104
    Google Scholar
  • 3 Sasmaz M. Immigration and Settlemen of Circassian in the Ottoman Empire on British Documents 1857–1864. Osmanlı Tarihi Araştırma ve Uygulama Merkezi Dergisi 1999; 09: 331-336
    Google Scholar
  • 4 World Health Organization (WHO). Community control of hereditary anemias, memorandum from a WHO meeting. Bull World Health Organ 1983; 61 (01) 63-80
    PubMedGoogle Scholar
  • 5 Modell B, Berdoukas V. Thalassaemia in Cyprus. In: Modell B, Berdoukas V. eds. The Clinical Approaches to Thalassaemia. London, United Kingdom: Grune & Stratton; 1984: 263-277
    Google Scholar
  • 6 Bozkurt G. Results from the north cyprus thalassemia prevention program. Hemoglobin 2007; 31 (02) 257-264
    CrossrefPubMedGoogle Scholar
  • 7 Kent G. Total victory over malaria. Read Dig 1951; 77-79
    Google Scholar
  • 8 Haldane JBS. The rate of mutations of human genes. Hered Suppl 1949; 35: 267-273
    CrossrefGoogle Scholar
  • 9 Aziz M. History of prevention of malaria in Cyprus. Cyprus Med J 1947; 1 (02) 13-17
    Google Scholar
  • 10 Sozuöz A, Berkalp A, Figus A, Loi A, Pirastu M, Cao A. β thalassaemia mutations in Turkish Cypriots. J Med Genet 1988; 25 (11) 766-768
    CrossrefPubMedGoogle Scholar
  • 11 Baysal E, Indrak K, Bozkurt G. et al. The β-thalassaemia mutations in the population of Cyprus. Br J Haematol 1992; 81 (04) 607-609
    CrossrefPubMedGoogle Scholar
  • 12 Kountouris P, Kousiappa I, Papasavva T. et al. The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study. Sci Rep 2016; 6: 26371
    CrossrefPubMedGoogle Scholar
  • 13 Grmek MD. -Malaria in the eastern Mediterranean in prehistory and antiquity-. Parassitologia 1994; 36 (1,2): 1-6
    PubMedGoogle Scholar
  • 14 Orkin SH, Kazazian Jr. HH, Antonarakis SE. et al. Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. Nature 1982; 296 (5858): 627-631
    CrossrefPubMedGoogle Scholar
  • 15 Tadmouri GO, Başak AN. β-thalassemia in Turkey: a review of the clinical, epidemiological, molecular, and evolutionary aspects. Hemoglobin 2001; 25 (02) 227-239
    CrossrefPubMedGoogle Scholar
  • 16 Tadmouri GO, Tüzmen S, Ozçelik H. et al. Molecular and population genetic analyses of beta-thalassemia in Turkey. Am J Hematol 1998; 57 (03) 215-220
    CrossrefPubMedGoogle Scholar