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. 1984 Oct;81(19):6188–6191. doi: 10.1073/pnas.81.19.6188

Human embryonic zeta-globin chains in adult patients with alpha-thalassemias.

S W Chung, S C Wong, B J Clarke, M Patterson, W H Walker, D H Chui
PMCID: PMC391885  PMID: 6592610

Abstract

Human embryonic zeta-globin chains are alpha-globin-like chains that are normally present during the first three months of gestation. In this investigation, zeta-globin chains measured by a specific and sensitive radioimmunoassay and by an electrophoretic technique were found to be present in all 7 patients studied with hereditary Hb H disease, and in 8 out of 24 patients with alpha-thalassemia trait. zeta-Globin chains were not detected in 20 other patients with beta-thalassemia trait. These results suggest that the deletion of two alpha-globin genes on the same chromosome is accompanied by the continued expression of embryonic zeta-globin genes in adult individuals.

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Selected References

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

  1. Abraham E. C., Reese A., Stallings M., Huisman T. H. Separation of human hemoglobins by DEAE-cellulose chromatography using glycine-KCN-NaC1 developers. Hemoglobin. 1976;1(1):27–44. doi: 10.3109/03630267609031020. [DOI] [PubMed] [Google Scholar]
  2. Alter B. P., Goff S. C., Efremov G. D., Gravely M. E., Huisman T. H. Globin chain electrophoresis: a new approach to the determination of the G gamma/A gamma ratio in fetal haemoglobin and to studies of globin synthesis. Br J Haematol. 1980 Apr;44(4):527–534. doi: 10.1111/j.1365-2141.1980.tb08706.x. [DOI] [PubMed] [Google Scholar]
  3. Aschauer H., Sanguansermsri T., Braunitzer G. Embryonale Hämoglobine des Menschen: Die Primärstruktur der zeta-Ketten. Hoppe Seylers Z Physiol Chem. 1981 Aug;362(8):1159–1162. [PubMed] [Google Scholar]
  4. Bernards R., Flavell R. A. Physical mapping of the globin gene deletion in hereditary persistence of foetal haemoglobin (HPFH). Nucleic Acids Res. 1980 Apr 11;8(7):1521–1534. doi: 10.1093/nar/8.7.1521. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Brotherton T. W., Chui D. H., Gauldie J., Patterson M. Hemoglobin ontogeny during normal mouse fetal development. Proc Natl Acad Sci U S A. 1979 Jun;76(6):2853–2857. doi: 10.1073/pnas.76.6.2853. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Capp G. L., Rigas D. A., Jones R. T. Hemoglobin Portland 1: a new human hemoglobin unique in structure. Science. 1967 Jul 7;157(3784):65–66. doi: 10.1126/science.157.3784.65. [DOI] [PubMed] [Google Scholar]
  7. Chui D. H., Wong S. C., Enkin M. W., Patterson M., Ives R. A. Proportion of fetal hemoglobin synthesis decreases during erythroid cell maturation. Proc Natl Acad Sci U S A. 1980 May;77(5):2757–2761. doi: 10.1073/pnas.77.5.2757. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Clegg J. B., Gagnon J. Structure of the zeta chain of human embryonic hemoglobin. Proc Natl Acad Sci U S A. 1981 Oct;78(10):6076–6080. doi: 10.1073/pnas.78.10.6076. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Dozy A. M., Kan Y. W., Embury S. H., Mentzer W. C., Wang W. C., Lubin B., Davis J. R., Jr, Koenig H. M. alpha-Globin gene organisation in blacks precludes the severe form of alpha-thalassaemia. Nature. 1979 Aug 16;280(5723):605–607. doi: 10.1038/280605a0. [DOI] [PubMed] [Google Scholar]
  10. Fritsch E. F., Lawn R. M., Maniatis T. Characterisation of deletions which affect the expression of fetal globin genes in man. Nature. 1979 Jun 14;279(5714):598–603. doi: 10.1038/279598a0. [DOI] [PubMed] [Google Scholar]
  11. GREENWOOD F. C., HUNTER W. M., GLOVER J. S. THE PREPARATION OF I-131-LABELLED HUMAN GROWTH HORMONE OF HIGH SPECIFIC RADIOACTIVITY. Biochem J. 1963 Oct;89:114–123. doi: 10.1042/bj0890114. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Garver F. A., Baker M. B., Jones C. S., Gravely M., Altay G., Huisman T. H. Radioimmunoassay for abnormal hemoglobins. Science. 1977 Jun 17;196(4296):1334–1336. doi: 10.1126/science.867032. [DOI] [PubMed] [Google Scholar]
  13. Lie-Injo L. E., Dozy A. M., Kan Y. W., Lopes M., Todd D. The alpha-globin gene adjacent to the gene for HbQ-alpha 74 Asp replaced by His is deleted, but not that adjacent to the gene for HbG-alpha 30 Glu replaced by Gln; three-fourths of the alpha-globin genes are deleted in HbQ-alpha-thalassemia. Blood. 1979 Dec;54(6):1407–1416. [PubMed] [Google Scholar]
  14. Liebhaber S. A., Kan Y. W. Molecular pathology of alpha-thalassemia. Birth Defects Orig Artic Ser. 1982;18(7):35–44. [PubMed] [Google Scholar]
  15. Orkin S. H., Old J., Lazarus H., Altay C., Gurgey A., Weatherall D. J., Nathan D. G. The molecular basis of alpha-thalassemias: frequent occurrence of dysfunctional alpha loci among non-Asians with Hb H disease. Cell. 1979 May;17(1):33–42. doi: 10.1016/0092-8674(79)90292-7. [DOI] [PubMed] [Google Scholar]
  16. Pirastu M., Lee K. Y., Dozy A. M., Kan Y. W., Stamatoyannopoulos G., Hadjiminas M. G., Zachariades Z., Angius A., Furbetta M., Rosatelli C. Alpha-thalassemia in two Mediterranean populations. Blood. 1982 Aug;60(2):509–512. [PubMed] [Google Scholar]
  17. Proudfoot N. J., Gil A., Maniatis T. The structure of the human zeta-globin gene and a closely linked, nearly identical pseudogene. Cell. 1982 Dec;31(3 Pt 2):553–563. doi: 10.1016/0092-8674(82)90311-7. [DOI] [PubMed] [Google Scholar]
  18. Randhawa Z. I., Jones R. T., Lie-Injo L. E. Human hemoglobin Portland II (zeta 2 beta 2). Isolation and characterization of Portland hemoglobin components and their constituent globin chains. J Biol Chem. 1984 Jun 10;259(11):7325–7330. [PubMed] [Google Scholar]
  19. Todd D., Lai M. C., Beaven G. H., Huehns E. R. The abnormal haemoglobins in homozygous alpha-thalassaemia. Br J Haematol. 1970 Jul;19(1):27–31. doi: 10.1111/j.1365-2141.1970.tb01598.x. [DOI] [PubMed] [Google Scholar]
  20. Walker W. H. An approach to immunoassay. Clin Chem. 1977 Feb;23(2 Pt 2):384–402. [PubMed] [Google Scholar]
  21. Weatherall D. J., Clegg J. B., Boon W. H. The haemoglobin constitution of infants with the haemoglobin Bart's hydrops foetalis syndrome. Br J Haematol. 1970 Mar;18(3):357–367. doi: 10.1111/j.1365-2141.1970.tb01449.x. [DOI] [PubMed] [Google Scholar]
  22. Weatherall D. J., Higgs D. R., Clegg J. B., Wood W. G. The significance of haemoglobin H in patients with mental retardation or myeloproliferative disease. Br J Haematol. 1982 Nov;52(3):351–355. doi: 10.1111/j.1365-2141.1982.tb03904.x. [DOI] [PubMed] [Google Scholar]
  23. Wong S. C., Ali M. A. Hemoglobin E diseases: hematological, analytical, and biosynthetic studies in homozygotes and double heterozygotes for alpha-thalassemia. Am J Hematol. 1982 Aug;13(1):15–21. doi: 10.1002/ajh.2830130104. [DOI] [PubMed] [Google Scholar]

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