Document Detail


Triple heterozygosity of a hemoglobin variant: hemoglobin Pyrgos with other hemoglobinopathies.
MedLine Citation:
PMID:  11843288     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  International journal of hematology     Volume:  75     ISSN:  0925-5710     ISO Abbreviation:  Int. J. Hematol.     Publication Date:  2002 Jan 
Date Detail:
Created Date:  2002-02-14     Completed Date:  2002-04-23     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9111627     Medline TA:  Int J Hematol     Country:  Ireland    
Other Details:
Languages:  eng     Pagination:  35-9     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Faculty of Medicine, Faculty of Associated Medical Sciences, Khon Kaen University, Thailand. arunee@pediatrician.com
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MeSH Terms
Descriptor/Qualifier:
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*
Chemical
Reg. No./Substance:
0/Hemoglobins, Abnormal; 59299-37-5/hemoglobin Pyrgos; 9004-22-2/Globins; 9034-61-1/Hemoglobin E; 9056-09-1/hemoglobin Bart's; 9066-22-2/Hemoglobin Constant Spring

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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