International Journal of Hematology

, Volume 75, Issue 1, pp 35–39

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

  • Arunee Jetsrisuparb
  • Kanokwan Sanchaisuriya
  • Goonnapa Fucharoen
  • Supan Fucharoen
  • Surapon Wiangnon
  • Patcharee Komwilaisak
Progress in Hematology

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 Pyrgos Triple heterozygosity 

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Copyright information

© The Japanese Society of Hematology 2002

Authors and Affiliations

  • Arunee Jetsrisuparb
    • 1
  • Kanokwan Sanchaisuriya
    • 2
  • Goonnapa Fucharoen
    • 2
  • Supan Fucharoen
    • 3
  • Surapon Wiangnon
    • 1
  • Patcharee Komwilaisak
    • 1
  1. 1.Department of PediatricsFaculty of MedicineThailand
  2. 2.Departments of Clinical MicroscopyKhon Kaen UniversityKhon KaenThailand
  3. 3.Clinical Chemistry, Faculty of Associated Medical SciencesKhon Kaen UniversityKhon KaenThailand
  4. 4.Department of Pediatrics, Faculty of MedicineKhon Kaen UniversityKhon KaenThailand

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