Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

A Czechoslovakian teenager with Hb E-β∘-thalassemia [IVS-I-1 (G → A)] complicated by the presence of an α-globin gene triplication

  • 32 Accesses

  • 4 Citations

Summary

We have examined the molecular basis of three inherited hemoglobin (Hb) disorders present in a Czechoslovakian girl with a severe, transfusion-dependent, hemolytic anemia. She is heterozygous for Hb E (on a genetic background specific for Czechoslovakian families), heterozygous for the β∘-thalassemia (thal) allele IVS-I-1 (G → A), and heterozygous for an α-globin gene triplication. The combination of these three undesirable traits results in a severe chain imbalance that is the basis of the serious hemolytic disorder observed in this teenager.

This is a preview of subscription content, log in to check access.

References

  1. 1.

    Bisse E, Wieland H (1988) High-performance liquid chromatographic separation of human haemoglobins — simultaneous quantitation of foetal and glycated haemoglobins. J Chromatogr 434: 95–110

  2. 2.

    Brabec V, Borova J, Fortova H, Hrodek O, Neuwirt J, Neuwirtova R, Syristova E (1988) β Thalassemia in Czech families. Vnitr Lek 34: 979–988

  3. 3.

    Bunn HF, Forget BG (1986) Hemoglobin: molecular, genetic and clinical aspects. Saunders, Philadelphia

  4. 4.

    Fairbanks VF, Gilchrist GS, Brimhall B, Jereb JA, Goldston EC (1979) Hemoglobin E trait reexamined: a cause of microcytosis and erythrocytosis. Blood 53: 109–115

  5. 5.

    Fei YJ, Kutlar F, Harris HF II, Wilson MM, Milana A, Sciacca P, Schiliro G, Masala B, Manca L, Altay C, Gurgey A, de Pablos JMa, Villegas A, Huisman THJ (1989) A search for anomalies in the ζ, α, β, and γ globin gene arrangements in normal Black, Italian, Turkish, and Spanish newborns. Hemoglobin 13: 45–65

  6. 6.

    Felice AE, Cleek MP, McKie K, McKie V, Huisman THJ (1984) The rare α-thalassemia-1 of Blacks is a ζα-thalassemia-1 associated with a deletion of all α- and ζ-globin genes. Blood 63: 1253–1257

  7. 7.

    Fortova H, Suttnar J, Brabec V, Pavlik M, Hrodek O (1991) Hb E [β 26 (B8) Glu → Lys in a Czechoslovakian family. Hemoglobin 15: 129–131

  8. 8.

    Gonzalez-Redondo JM, Stoming TA, Kutlar A, Kutlar F, Lanclos KD, Howard EF, Fei YJ, Aksoy M, Altay C, Gurgey A, Basak AN, Efremov GD, Petkov G, Huisman THJ (1989) A C → T substitution at nt-101 in a conserved DNA sequence of the promoter region of the β-globin gene is associated with “silent” β-thalassemia. Blood 73: 1705–1711

  9. 9.

    Gonzalez-Redondo JM, Stoming TA, Lanclos KD, Gu YC, Kutlar A, Kutlar F, Nakatsuji T, Deng B, Han IS, McKie VC, Huisman THJ (1988) Clinical and genetic heterogeneity in Black patients with homozygous β-thalassemia from the southeastern United States. Blood 72: 1007–1014

  10. 10.

    Kazazian HH Jr, Waber PG, Boehm CD, Lee JI, Antonarakis SE, Fairbanks VF (1984) Hemoglobin E in Europeans: further evidence for multiple origins of the βE-globin gene. Am J Hum Genet 36: 212–217

  11. 11.

    Kutlar A, Kutlar F, Gu L-G, Mayson SM, Huisman THJ (1990) Fetal hemoglobin in normal adults and β-thalassemia heterozygotes. Hum Genet 85: 106–110

  12. 12.

    Kutlar F, Kutlar A, Huisman THJ (1986) Separation of normal and abnormal hemoglobin chains by reversed-phase high-performance liquid chromatography. J Chromatogr 357: 147–153

  13. 13.

    Nakatsuji T, Kutlar A, Kutlar F, Huisman THJ (1986) Haplotypes among Vietnamese hemoglobin-E homozygotes including one with a γ globin gene triplication. Am J Hum Genet 38: 981–983

  14. 14.

    Shelton JB, Shelton JR, Schroeder WA (1984) High-performance liquid chromatographic separation of globin chains on a large-pore C4 column. J Liq Chromatogr 7: 1969–1977

Download references

Author information

Correspondence to T. H. J. Huisman.

Additional information

This study was supported in part by USPHS Research Grant HLB-41544. This is contribution 1282 from the Department of Cell and Molecular Biology at the Medical College of Georgia in Augusta

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Indrak, K., Fei, Y.J., Li, H.W. et al. A Czechoslovakian teenager with Hb E-β∘-thalassemia [IVS-I-1 (G → A)] complicated by the presence of an α-globin gene triplication. Ann Hematol 63, 42–44 (1991). https://doi.org/10.1007/BF01714960

Download citation

Key words

  • Hb E
  • β-Thal trait
  • α-Globin genes
  • Chain imbalance