Skip to main content
PMC home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1980 Jan;32(1):26–41.

Sickle beta 0 thalassemia in Eastern Saudi Arabia.

M E Pembrey, R P Perrine, W G Wood, D J Weatherall
PMCID: PMC1685932  PMID: 6153864

Abstract

The sickle cell (beta s) gene occurs at a high frequency in the oasis populations of Eastern Saudi Arabia. However, as compared with the disorder in Africans, sickle cell anemia runs an unusually benign clinical course in this populations; this has been attributed in part to the relatively high levels of fetal hemoglobin (Hb F) which characterize Saudi Arabians with this condition [1, 2]. As yet, there is no satisfactory explanation for this remarkable phenomenon. To learn more about the expression of the beta s gene in Eastern Saudi Arabia, we examined its interaction with beta 0 thalassemia. We found that remarkably high levels of Hb F in this population are not restricted to individuals with sickle cell anemia but also occur in compound heterozygotes for the beta s and beta 0 thalassemia (beta 0 thal) genes. Additionally, this study has characterized sickle cell-beta 0 thalassemia (S-beta 0 thal) in Eastern Saudi Arabia for the first time.

Full text

PDF
40

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Alter B. P., Rappeport J. M., Huisman T. H., Schroeder W. A., Nathan D. G. Fetal erythropoiesis following bone marrow transplantation. Blood. 1976 Dec;48(6):843–853. [PubMed] [Google Scholar]
  2. BETKE K., MARTI H. R., SCHLICHT I. Estimation of small percentages of foetal haemoglobin. Nature. 1959 Dec 12;184(Suppl 24):1877–1878. doi: 10.1038/1841877a0. [DOI] [PubMed] [Google Scholar]
  3. DeSimone J., Biel S. I., Heller P. Stimulation of fetal hemoglobin synthesis in baboons by hemolysis and hypoxia. Proc Natl Acad Sci U S A. 1978 Jun;75(6):2937–2940. doi: 10.1073/pnas.75.6.2937. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Dover G. J., Boyer S. H., Zinkham W. H. Production of erythrocytes that contain fetal hemoglobin in anemia. Transient in vivo changes. J Clin Invest. 1979 Feb;63(2):173–176. doi: 10.1172/JCI109286. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Kidoguchi K., Ogawa M., Karam J. D., Martin A. G. Augmentation of fetal hemoglobin (HbF) synthesis in culture by human erythropoietic precursors in the marrow and peripheral blood: studies in sickle cell anemia and nonhemoglobinopathic adults. Blood. 1978 Dec;52(6):1115–1124. [PubMed] [Google Scholar]
  6. Papayannopoulou T. H., Brice M., Stamatoyannopoulos G. Stimulation of fetal hemoglobin synthesis in bone marrow cultures from adult individuals. Proc Natl Acad Sci U S A. 1976 Jun;73(6):2033–2037. doi: 10.1073/pnas.73.6.2033. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Papayannopoulou T., Brice M., Stamatoyannopoulos G. Hemoglobin F synthesis in vitro: evidence for control at the level of primitive erythroid stem cells. Proc Natl Acad Sci U S A. 1977 Jul;74(7):2923–2927. doi: 10.1073/pnas.74.7.2923. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Papayannopoulou T., Nakamoto B., Buckley J., Kurachi S., Nute P. E., Stamatoyannopoulos G. Erythroid progenitors circulating in the blood of adult individuals produce fetal hemoglobin in culture. Science. 1978 Mar 24;199(4335):1349–1350. doi: 10.1126/science.628844. [DOI] [PubMed] [Google Scholar]
  9. Pembrey M. E., McWade P., Weatherall D. J. Reliable routine estimation of small amounts of foetal haemoglobin by alkali denaturation. J Clin Pathol. 1972 Aug;25(8):738–740. doi: 10.1136/jcp.25.8.738. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Pembrey M. E., Weatherall D. J., Clegg J. B., Bunch C., Perrine R. P. Haemoglobin Bart's in Saudi Arabia. Br J Haematol. 1975 Feb;29(2):221–234. doi: 10.1111/j.1365-2141.1975.tb01816.x. [DOI] [PubMed] [Google Scholar]
  11. Pembrey M. E., Wood W. G., Weatherall D. J., Perrine R. P. Fetal haemoglobin production and the sickle gene in the oases of Eastern Saudi Arabia. Br J Haematol. 1978 Nov;40(3):415–429. doi: 10.1111/j.1365-2141.1978.tb05813.x. [DOI] [PubMed] [Google Scholar]
  12. Perrine R. P., Pembrey M. E., John P., Perrine S., Shoup F. Natural history of sickle cell anemia in Saudi Arabs. A study of 270 subjects. Ann Intern Med. 1978 Jan;88(1):1–6. doi: 10.7326/0003-4819-88-1-1. [DOI] [PubMed] [Google Scholar]
  13. Serjeant G. R., Ashcroft M. T., Serjeant B. E., Milner P. F. The clinical features of sickle-cell- thalassaemia in Jamaica. Br J Haematol. 1973 Jan;24(1):19–30. doi: 10.1111/j.1365-2141.1973.tb05723.x. [DOI] [PubMed] [Google Scholar]
  14. Serjeant G. R., Sommereux A. M., Stevenson M., Mason K., Serjeant B. E. Comparison of sickle cell-beta0 thalassaemia with homozygous sickle cell disease. Br J Haematol. 1979 Jan;41(1):83–93. doi: 10.1111/j.1365-2141.1979.tb03684.x. [DOI] [PubMed] [Google Scholar]
  15. Sheridan B. L., Weatherall D. J., Clegg J. B., Pritchard J., Wood W. G., Callender S. T., Durrant I. J., McWhirter W. R., Ali M., Partridge J. W. The patterns of fetal haemoglobin production in leukaemia. Br J Haematol. 1976 Apr;32(4):487–506. doi: 10.1111/j.1365-2141.1976.tb00952.x. [DOI] [PubMed] [Google Scholar]
  16. Stamatoyannopoulos G., Wood W. G., Papayannopoulou T., Nute P. E. A new form of hereditary persistence of fetal hemoglobin in blacks and its association with sickle cell trait. Blood. 1975 Nov;46(5):683–692. [PubMed] [Google Scholar]
  17. Wood W. G., Stamatoyannopoulos G., Lim G., Nute P. E. F-cells in the adult: normal values and levels in individuals with hereditary and acquired elevations of Hb F. Blood. 1975 Nov;46(5):671–682. [PubMed] [Google Scholar]
  18. Wood W. G., Weatherall D. J., Clegg J. B., Hamblin T. J., Edwards J. H., Barlow A. M. Heterocellular hereditary persistence of fetal haemoglobin (heterocellular HPFH) and its interaction with beta thalassaemia. Br J Haematol. 1977 Aug;36(4):461–473. doi: 10.1111/j.1365-2141.1977.tb00986.x. [DOI] [PubMed] [Google Scholar]
  19. Wood W. G., Weatherall D. J., Clegg J. B. Interaction of heterocellular hereditary persistence of foetal haemoglobin with beta thalassaemia and sickle cell anaemia. Nature. 1976 Nov 18;264(5583):247–249. doi: 10.1038/264247a0. [DOI] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES