Huisman T H
Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta 30912-2114, USA.
Clin Chem. 1997 Oct;43(10):1850-6.
Hematological and hemoglobin (Hb) data are presented for numerous patients with compound heterozygosities for different beta chain variants and for a beta chain variant with different beta-thalassemia (beta-thal) alleles. Considerable variations, which result from the type of beta chain variant and beta-thal mutation, can be noted. The comparison again emphasizes the importance of determining the diagnoses at the molecular level to aid the physician in the management of patients with different combinations of abnormalities. Simplification and commercialization of modern technology may make the introduction of this approach in some clinical chemistry laboratories possible.
文中呈现了众多不同β链变异体的复合杂合子患者以及具有不同β地中海贫血（β-地贫）等位基因的β链变异体患者的血液学和血红蛋白（Hb）数据。可以注意到，由于β链变异体类型和β-地贫突变的不同，存在相当大的差异。该比较再次强调了在分子水平进行诊断以帮助医生管理具有不同异常组合患者的重要性。现代技术的简化和商业化可能会使这种方法在一些临床化学实验室得以应用。
