Document Detail


Secondary erythrocytosis caused by hemoglobin Tak/(δβ)0-thalassemia syndrome.
MedLine Citation:
PMID:  20798489     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Secondary erythrocytosis may arise from several causes, but an association with oxygen transport is rare. We describe for the first time a form of secondary erythrocytosis caused by compound heterozygosity for hemoglobin (Hb) Tak and (δβ)(0)-thalassemia found in an adult Thai individual. The patient had marked erythrocytosis and microcytosis with increased Hb and hematocrit values. Hb analyses using the Hb Gold Analyzer showed Hb A₂ (72.5%) and Hb F (30.0%) without Hb A while the capillary electrophoresis revealed 2.3% Hb A₂ and a major peak of Hb F (91.2%). Further molecular investigation identified that he was in fact a compound heterozygote for Hb Tak and deletional (δβ)(0)-thalassemia. Hematological parameters of the patient were compared with those observed for a Thai boy who demonstrated features of erythrocytosis and microcytosis caused by homozygous Hb Tak with α(+)-thalassemia and with those of pure carriers of Hb Tak and (δβ)(0)-thalassemia in our series. This report confirms the importance of both Hb and molecular investigations for the assessment of genotype/phenotype correlation and the appropriate management of the patients.
Authors:
Nattaphol Prakobkaew; Sanita Singsanan; Goonnapa Fucharoen; Satja Surapot; Supan Fucharoen
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-08-26
Journal Detail:
Title:  Acta haematologica     Volume:  124     ISSN:  1421-9662     ISO Abbreviation:  Acta Haematol.     Publication Date:  2010  
Date Detail:
Created Date:  2010-10-07     Completed Date:  2010-10-25     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0141053     Medline TA:  Acta Haematol     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  115-9     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 S. Karger AG, Basel.
Affiliation:
Biomedical Science Program, Graduate School, Khon Kaen University, Khon Kaen, Thailand.
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MeSH Terms
Descriptor/Qualifier:
Adult
Base Sequence
Child
Genotype
Hemoglobins, Abnormal / genetics*
Humans
Male
Phenotype
Polycythemia / etiology*,  genetics*
alpha-Thalassemia / etiology,  genetics
beta-Thalassemia / complications*,  genetics*
Chemical
Reg. No./Substance:
0/Hemoglobins, Abnormal; 0/hemoglobin Tak

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