The relevance of hemoglobin F measurement in the diagnosis of thalassemias and related hemoglobinopathies
The relevance of hemoglobin F measurement in the diagnosis of thalassemias and related hemoglobinopathies
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DOI：
10.1016/j.clinbiochem.2009.06.023
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发表时间：
2009-12-01
影响因子：
2.8
通讯作者：
Ivaldi, Giovanni
中科院分区：
文献类型：
--
作者：
Mosca, Andrea;Paleari, Renata;Ivaldi, Giovanni
目的：血红蛋白 (Hb) F 水平的升高与 β 地中海贫血特征的存在存在不同的相关性，并且在 δ β 地中海贫血和胎儿血红蛋白遗传性持续存在的情况下更为典型。在正常健康受试者中，不同水平的 HbF 与多态性 (G)gamma - 158 (C>T) 的存在有关。此外，HbF 也可能与其他获得性疾病相关而不同程度地增加。这项工作的目的是回顾 HbF 测定在各种情况下的作用。设计和方法：在本文件中，我们评论了准确性和标准化的必要性，以及 HbF 值的解释，回顾了与该测试相关的最关键方面。结果：我们提出了一个实用流程图，总结了 HbF 估计在不同地中海贫血综合征和相关血红蛋白病中的重要性。结论：HbF 的测定与最终诊断相关各种生理病理状况。我们认为，由于诱导 HbF 合成来治疗地中海贫血综合征的新方法不断涌现，其重要性在接下来的几年中将会增加。 (C) 2009 年加拿大临床化学家协会。由爱思唯尔公司出版。保留所有权利。
Objectives: The increase in hemoglobin (Hb) F level is variably associated to the presence of beta thalassemia trait, and is more typical in presence of delta beta thalassemia and of hereditary persistence of fetal hemoglobin. In normal healthy Subjects variable levels of HbF are related to the presence of the polymorphism (G)gamma - 158 (C>T). Moreover, HbF can also be variably increased in association with other acquired conditions. The objective of this work is to review the role of the determination of HbF in various conditions.Design and methods: In the present document we comment on the need for accuracy and standardization, and on the interpretation of the HbF value, reviewing most crucial aspects related to this test.Results: We present a practical flow-chart summarizing the significance of the HbF estimation in different thalassemia syndromes and related hemoglobinopathies.Conclusion: The determination of HbF is relevant for the final diagnosis of various physiopathological conditions. In our opinion its importance will increase in the following years, because of the proliferation of novel approaches for the induction of HbF synthesis as a cure for thalassemia syndromes. (C) 2009 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.