Summary
The frequency of the βs mutation in the district of Coruche/Portugal is estimated to be about 4% from analysis of a group of 181 school children and their teachers in an area in which malaria has been endemic until recently. Several white Portuguese patients with sickle cell disease (six homozygous SS and one Sβ° thalassaemia) were found in a group of 309 further patients who were known and followed up by local medical practitioners. These patients had clinical and haematological features similar to patients of African origin, although their growth and sexual development appeared to be normal. The analysis of an array of polymorphic restriction sites within the βs globin gene cluster (βs haplotype) showed patterns that are known to occur in Africa. The frequencies of the three main African βs haplotypes termed Senegal, Bantu, and Benin reflect the extent of Portuguese naval explorations. It is concluded that the sickle cell gene in Portugal has probably been imported from Africa and has been amplified in comparison with other genes characteristic for African races because of the selective advantage of AS heterozygotes in an area endemic for malaria.
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References
Allison AC (1954) The distribution of the sickle cell trait in East Africa and elsewhere, and its apparent relationship to the incidence of subtertian malaria. Trans R Soc Trop Med Hyg 48:312–318
Aluoch JR, Kilinc Y, Aksoy M, Yüregir GT, Bakioglu I, Kutlar A, Kutlar F, Huisman THJ (1986) Sickle cell anaemia among Eti-Turks: haematological, clinical and genetic observations. Br J Haematol 64:45–55
Antonarakis SE, Boehm CD, Serjeant DR, Theisen CE, Dover GJ, Kazazian HH (1984) Origin of the βs gene in blacks: the contribution of recurrent mutation or gene conversion or both. Proc Natl Acad Sci USA 81:853–856
Barrai I, Schiliro G, Beretta M, Mazzetti P, Russo A, Russo Manusco G (1987) Population structure of Sicily: beta-thalassemia and HbS. Hum Genet 75:1–3
Cambournac FJC (1942) Sobre a epidemiologia do sezonismo em Portugal. Direcao Geral de Saúde Pública, Lisboa
Coutinho Gomes MP, Gomes da Costa MG, Braga LB, Cordeiro-Ferreira NT, Loi A, Pirastu M, Cao A (1988) β-Thalassemia mutations in the Portuguese population. Hum Genet 78:13–15
Dacie JV, Lewis SM (1984) Practical haematology, 6th edn. Churchill Livingstone, Edinburgh
Gomes da Costa MG, Cordeiro-Ferreira NT, Tribuna J (1977) Drepanocitose. Rev Port Ped, Special issue, pp 146–177
Gootenberg JE, Boehm CD, Kazazian HH (1987) Novel βs globin gene haplotype in a Caucasian with homozygous sickle cell anemia. Blood 70 [Suppl]:61a (abstr)
Higgs DR, Weatherall DJ (1983) Alpha-thalassemia. In: Pionelli S, Yachnin S (eds) Current topics in haematology, vol 4. Liss, New York, pp 37–97
Higgs DR, Aldridge BE, Lamb J, Clegg JB, Weatherall DJ, Hayes RJ, Grandison Y, Lowrie Y, Mason KP, Serjeant BE, Serjeant GR (1982) The interaction of alpha-thalassemia and homozygous sickle-cell disease. N Engl J Med 306:1441–1446
Kar BC, Satapathy RK, Kulozik AE, Kulozik M, Sirr S, Serjeant BE, Serjeant GR (1986) Sickle cell disease in Orissa State, India. Lancet II:1198–1201
Kazazian HH, Orkin SH, Markham AF, Chapman CR, Youssoufian H, Waber PG (1984) Quantification of the close association between DNA haplotypes and specific β-thalassaemia mutations in Mediterraneans. Nature 310:152–154
Kulozik AE, Wainscoat JS, Serjeant GR, Kar BC, Al-Awamy B, Essan GJF, Falusi AG, Haque SK, Hilali AM, Kate S, Ranasinghe WAEP, Weatherall DJ (1986) Geographical survey of βs-globin gene haplotypes: evidence for an independent Asian origin of the sickle-cell mutation. Am J Hum Genet 39:239–244
Kulozik AE, Kar BC, Satapathy RK, Serjeant BE, Serjeant GR, Weatherall DJ (1987) Fetal hemoglobin levels and βs globin haplotypes in an Indian population with sickle cell disease. Blood 69:1742–1746
Kulozik AE, Kar BC, Serjeant GR, Serjeant BE, Weatherall DJ (1988) The molecular basis of α thalassemia in India. Its interaction with the sickle cell gene. Blood 71:467–472
Loukopoulos D, Voskaridou E, Hatzi A, Boussiou M (1988) Sickle cell syndromes in Greece. III Meeting of the WHO European/Mediterranean working group on hemoglobinopathies, Milan 1988
Nagel RL (1984) The origin of the hemoglobin S gene: clinical, genetic and anthropological consequences. Einstein Quart J Biol Med 2:53–62
Nagel RL, Fabry ME, Pagnier J, Zohoun I, Wajcman H, Baudin V, Labie D (1985) Hematologically and genetically distinct forms of sickle cell anemia in Africa. N Engl J Med 312:880–884
Nagel RL, Rao SK, Dunda-Belkhodja O, Conolly MM, Fabry ME, Georges A, Krishnamoorthy R, Labie D (1987) The hematologic characteristics of sickle cell anemia bearing the Bantu haplotype: the relationship between Gγ and HbF level. Blood 69:1026–1030
Pagnier J, Mears JG, Dunda-Belkhodja O, Schaefer-Rego KE, Beldjord C, Nagel RL, Labie D (1984) Evidence for the mutlicentric origin of the sickle cell hemoglobin gene in Africa. Proc Natl Acad Sci USA 81:1771–1773
Perrine RP, Pembrey ME, John P, Perrine S, Shoup F (1978) Natural history of sickle cell anemia in Saudi Arabs. Ann Intern Med 88:1–6
Serjeant GR (1985) Sickle cell disease. Oxford Medical Publications, Oxford
Wainscoat JS, Bell JI, Thein SL, Higgs DR, Serjeant GR, Peto TEA, Weatherall DJ (1983) Multiple origins of the sickle mutation: evidence from βs globin gene cluster polymorphisms. Mol Biol Med 1:191–197
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Monteiro, C., Rueff, J., Falcao, A.B. et al. The frequency and origin of the sickle cell mutation in the district of Coruche/Portugal. Hum Genet 82, 255–258 (1989). https://doi.org/10.1007/BF00291165
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DOI: https://doi.org/10.1007/BF00291165