Secondary erythrocytosis caused by hemoglobin Tak/(δβ)0-thalassemia syndrome.

Abstract

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
• Journal: Acta haematologica (Acta Haematol) Vol. 124 Issue 2 Pg. 115-9 ( 2010) ISSN: 1421-9662 [Electronic] Switzerland
• PMID: 20798489 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2010 S. Karger AG, Basel.

Chemical References

• Hemoglobins, Abnormal
• hemoglobin Tak

Topics

• Adult
• Base Sequence
• Child
• Genotype
• Hemoglobins, Abnormal (genetics)
• Humans
• Male
• Phenotype
• Polycythemia (etiology, genetics)
• alpha-Thalassemia (etiology, genetics)
• beta-Thalassemia (complications, genetics)