Biomedical Science Program, Graduate School, Khon Kaen University, Khon Kaen, Thailand.
Acta Haematol. 2010;124(2):115-9. doi: 10.1159/000318015. Epub 2010 Aug 26.
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.
继发性红细胞增多症可由多种原因引起，但与氧气输送相关的情况很少见。我们首次描述了一种由血红蛋白 (Hb) Tak 和 (δβ)(0)-地中海贫血复合杂合引起的继发性红细胞增多症，该患者为一名成年泰国人。该患者表现为明显的红细胞增多和小红细胞症，伴有 Hb 和血细胞比容值升高。使用 Hb Gold 分析仪进行 Hb 分析显示 Hb A₂（72.5%）和 Hb F（30.0%）而无 Hb A，而毛细管电泳则显示 2.3%的 Hb A₂和 Hb F 的主要峰（91.2%）。进一步的分子研究表明，他实际上是 Hb Tak 和缺失型 (δβ)(0)-地中海贫血的复合杂合子。将患者的血液学参数与我们系列中表现为 Hb Tak 纯合子与α(+)-地中海贫血所致红细胞增多和小红细胞症特征的泰国男孩以及 Hb Tak 和 (δβ)(0)-地中海贫血纯携带者的观察结果进行了比较。该报告证实了 Hb 和分子研究对于评估基因型/表型相关性以及对患者进行适当管理的重要性。
