International Journal of Hematology

, Volume 75, Issue 1, pp 35–39

Triple Heterozygosity of a Hemoglobin Variant: Hemoglobin Pyrgos With Other Hemoglobinopathies

Authors

    • Department of PediatricsFaculty of Medicine
  • Kanokwan Sanchaisuriya
    • Departments of Clinical MicroscopyKhon Kaen University
  • Goonnapa Fucharoen
    • Departments of Clinical MicroscopyKhon Kaen University
  • Supan Fucharoen
    • Clinical Chemistry, Faculty of Associated Medical SciencesKhon Kaen University
  • Surapon Wiangnon
    • Department of PediatricsFaculty of Medicine
  • Patcharee Komwilaisak
    • Department of PediatricsFaculty of Medicine
Progress in Hematology

DOI: 10.1007/BF02981976

Cite this article as:
Jetsrisuparb, A., Sanchaisuriya, K., Fucharoen, G. et al. Int J Hematol (2002) 75: 35. doi:10.1007/BF02981976

Abstract

This article is the first report of hemoglobin (Hb) Pyrgos along with other Hbs forming triple-heterozygous patterns. Of 2 cases, the first occurred in a Thai girl with thalassemic facies, marked anemia, and hepatosplenomegaly, who had Hb Pyrgos in association with Hb H disease with Hb Constant Spring (CS). This case represents a triple heterozygosity comprising Hb Pyrgos, α-thalassemia 1, and Hb CS. Hb electrophoresis revealed an abnormal Hb in addition to Hbs CS, A2, A, Bart’s, and H. This abnormal Hb moved slightly faster than Hb A but more slowly than Hb Bart’s. Polymerase chain reaction revealed that the abnormal Hb was caused by a missense mutation within codon 83 of the β-globin gene (GGC to GAC) resulting in a glycine-to-aspartic acid substitution, which corresponds to Hb Pyrgos. The patient required blood transfusions by the age of 3 years. A splenectomy was performed when she was 5 years old, after which her hematocrit level remained above 32%. The second case was the patient’s older sister who was also triple heterozygous (Hb Pyrgos, E, and CS) but was healthy.

Key words

Hb PyrgosTriple heterozygosity
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© The Japanese Society of Hematology 2002