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

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.

• Authors: Arunee Jetsrisuparb, Kanokwan Sanchaisuriya, Goonnapa Fucharoen, Supan Fucharoen, Surapon Wiangnon, Patcharee Komwilaisak
• Journal: International journal of hematology (Int J Hematol) Vol. 75 Issue 1 Pg. 35-9 (Jan 2002) ISSN: 0925-5710 [Print] Japan
• PMID: 11843288 (Publication Type: Case Reports, Journal Article)

Chemical References

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

Topics

• Alleles
• Amino Acid Substitution
• Anemia, Hemolytic, Congenital (genetics, surgery, 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, genetics)