Triple heterozygosity of a hemoglobin variant: hemoglobin Pyrgos with other hemoglobinopathies

Int J Hematol. 2002 Jan;75(1):35-9. doi: 10.1007/BF02981976.

Abstract

This article is the first report of hemoglobin (Hb) Pyrgos along with other Hbs forming triple-heterozvgous 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, alpha-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 beta-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.

Publication types

  • Case Reports

MeSH terms

  • Alleles
  • Amino Acid Substitution
  • Anemia, Hemolytic, Congenital / genetics*
  • Anemia, Hemolytic, Congenital / surgery
  • Anemia, Hemolytic, Congenital / therapy
  • Blood Protein Electrophoresis
  • Blood Transfusion
  • Child
  • Child, Preschool
  • Combined Modality Therapy
  • DNA Mutational Analysis
  • Electrophoresis, Cellulose Acetate
  • Female
  • Globins / genetics*
  • Hemoglobin E / genetics*
  • Hemoglobins, Abnormal / genetics*
  • Heterozygote
  • Humans
  • Mutation, Missense
  • Pedigree
  • Point Mutation
  • Splenectomy
  • alpha-Thalassemia / complications
  • alpha-Thalassemia / genetics*

Substances

  • Hemoglobins, Abnormal
  • hemoglobin Pyrgos
  • Globins
  • Hemoglobin E
  • hemoglobin Bart's
  • Hemoglobin Constant Spring