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The beta thalassaemia trait in Jamaica

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Abstract

The objective of this study was to review the prevalence and features of the beta thalassaemia trait in Jamaican populations. Screening of 221,306 newborns over the last 46 years has given an indication of the distribution and prevalence of beta thalassaemia genes, and screening of 16,612 senior school students in Manchester parish, central Jamaica, has provided their haematological features. The prevalence of the beta thalassaemia trait predicted from double heterozygotes was 0.8% of 100,000 babies in Kingston, 0.9% of 121,306 newborns in southwest Jamaica, and 0.9% of school students in Manchester. Mild beta+ thalassaemia variants (-88 C>T, -29 A>G, -90 C>T, polyA T>C) accounted for 75% of Kingston newborns, 76% of newborns in southwest Jamaica, and 89% of Manchester students. Severe beta+ thalassaemia variants were uncommon. Betao thalassaemia variants occurred in 43 patients and resulted from 11 different variants of which the IVSII-849 A>G accounted for 25 (58%) subjects. Red cell indices in IVSII-781 C>G did not differ significantly from HbAA, and this is probably a harmless polymorphism rather than a form of beta+ thalassaemia; the removal of 6 cases in school screening had a minimal effect on the frequency of the beta thalassaemia trait. Red cell indices in the beta+ and betao thalassaemia traits followed established patterns, although both were associated with increased HbF levels. The benign nature of beta+ thalassaemia genes in Jamaica means that cases of sickle cell-beta+ thalassaemia are likely to be overlooked, and important clinical questions such as the role of pneumococcal prophylaxis remain to be answered.

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References

  • Betke K, Marti HR, Schlicht I (1959) Estimation of small percentages of foetal haemoglobin. Nature 185:1877–1878

    Article  Google Scholar 

  • Donaldson A, Old J, Fisher C, Serjeant BE, Serjeant GR (2000) Jamaican Sβ+ thalassaemia: mutations and haematology. Br J Haematol 108:290–294

    Article  CAS  PubMed  Google Scholar 

  • Giardine BM, Joly P, Pissard S, Wajcman H, Chui DHK, Hardison RC, Patrinos GP (2021) Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res 49:D1192–D1196. https://doi.org/10.1093/nar/gkaa959

    Article  CAS  PubMed  Google Scholar 

  • Mason K, Gibson F, Gardner R, Warren L, Fisher D, Happich M, Kulozik A, Hambleton I, Serjeant B, Serjeant G (2016a) Newborn screening for sickle cell disease; Jamaican experience. West Ind Med J 65:18–26. https://doi.org/10.7727/wimj.2015.492

    Article  Google Scholar 

  • Mason K, Gibson F, Higgs D, Fisher C, Thein SL, Clark B, Kulozik A, Happich M, Serjeant B, Serjeant G (2016b) Haemoglobin variant screening in Jamaica: meeting student’s request. Br J Haematol 172:634–636. https://doi.org/10.1111/bjh.13531

    Article  PubMed  Google Scholar 

  • Mason KP, Grandison Y, Hayes RJ, Serjeant BE, Serjeant GR, Vaidya S, Wood WG (1982) Post-natal decline of fetal haemoglobin in homozygous sickle cell disease: relationship to parental HbF levels. Br J Haematol 52:455–463

    Article  CAS  PubMed  Google Scholar 

  • Merault G, Keclard L, Garin J, Poyart C, Blouquit Y, Arous N, Galacteros F, Feingold J, Rosa J (1986) Hemoglobin La Desirade αA2β2 129 (H7) Ala→Val: a new unstable hemoglobin. Hemoglobin 10:593–605

    Article  CAS  PubMed  Google Scholar 

  • Millard DP, Mason K, Serjeant BE, Serjeant GR (1977) Comparison of the haematological features of the βo and β+ thalassaemia traits in Jamaican Negroes. Br J Haematol 36:161–170

    Article  CAS  PubMed  Google Scholar 

  • Serjeant BE, Forbes M, Williams LL, Serjeant GR (1974) Screening cord bloods for detection of sickle cell disease in Jamaica. Clin Chem 20:666–669

    Article  CAS  PubMed  Google Scholar 

  • Serjeant BE, Mason KP, Serjeant GR (1978) The development of HbA2 in normal Negro infants and in sickle cell disease. Br J Haematol 39:259–265

    Article  CAS  PubMed  Google Scholar 

  • Serjeant GR (2022) Phenotypic variation in sickle cell disease: the role of beta globin haplotype, alpha thalassemia and fetal hemoglobin in HbSS. Expert Rev Hematol 15:107–116. https://doi.org/10.1080/17474086.2022.2040984

    Article  CAS  PubMed  Google Scholar 

  • Serjeant GR, Serjeant BE, Forbes M, Hayes RJ, Higgs DR, Lehmann H (1986) Haemoglobin gene frequencies in the Jamaican population: a study of 100,000 newborns. Br J Haematol 64:253–262

    Article  CAS  PubMed  Google Scholar 

  • Serjeant GR, Serjeant BE, Mason K, Happich M, Kulozik A (2019) Beta thalassemia mutations in Jamaica: geographic variation in small communities. Hemoglobin 42:294–296. https://doi.org/10.1080/03630269.2018.1540354

    Article  CAS  Google Scholar 

  • Serjeant GR, Serjeant BE, Mason KP, Gibson F, Gardner R-A, Warren L, Hambleton IR, Thein SL, Happich M, Kulozik AE (2022) Newborn screening for abnormal haemoglobins in Jamaica: practical issues in an island programme. J Med Screen. https://doi.org/10.1177/09691413221111209

  • Sweeting I, Serjeant BE, Thomas PW, Serjeant GR (1997) Microchromatographic quantitation of HbA levels in phenotypes of sickle cell-β+ thalassemia. J Chromatogr 700:269–274

    Article  CAS  Google Scholar 

  • Vetter B, Schwarz C, Kohne E, Kulozik AE (1997) Beta-thalassaemia in the immigrant and non-immigrant German populations. Br J Haematol. 97:266–272. https://doi.org/10.1046/j.1365-2141.1997.342674.x

    Article  CAS  PubMed  Google Scholar 

  • Weatherall DJ, Clegg JB (1981) Thalassaemia syndromes, 3rd edn. Blackwell Scientific Publications, Oxford, UK

    Google Scholar 

  • World Population Review quoting Statistical Institute of Jamaica 2023. Accessed from internet on 16 Jun 2023

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Funding

This work was funded in part by the National Health Fund of Jamaica, grant HPP70.

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Authors and Affiliations

  1. Sickle Cell Trust, 14 Milverton Cres, Kingston 6, Jamaica

    G. R. Serjeant, B. E. Serjeant, K. P. Mason, F. Gibson, R-A Gardner & L. Warren

  2. Faculty of Medical Sciences, University of the West Indies, Mona, Kingston 7, Jamaica

    M. Reid

  3. Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Heidelberg, Germany

    M. Happich & A. E. Kulozik

Authors
  1. G. R. Serjeant
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  2. B. E. Serjeant
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  3. K. P. Mason
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  4. F. Gibson
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  5. R-A Gardner
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  6. L. Warren
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  7. M. Reid
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  8. M. Happich
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  9. A. E. Kulozik
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Contributions

GRS and BES conceived the study; KPM, FG, R-A G, GRS, and LW conducted the blood collection and analysis; MR performed the statistical analysis; AEK and MH performed the DNA analyses. All authors read and approved the manuscript.

Corresponding author

Correspondence to G. R. Serjeant.

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Ethical approval

The study was approved by the Ministry of Health and the Ministry of Education of the Jamaican Government and performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards.

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The authors declare no competing interests.

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Serjeant, G., Serjeant, B., Mason, K. et al. The beta thalassaemia trait in Jamaica. J Community Genet 14, 355–360 (2023). https://doi.org/10.1007/s12687-023-00657-9

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