Kerdpoo Sasiwan, Limweeraprajak Ektong, Tatu Thanusak
Division of Clinical Microscopy, Department of Medical Technology, Faculty of Associated Medical Sciences, Chiang Mai University, Chiang Mai, 50200, Thailand.
Int J Hematol. 2014 Mar;99(3):338-44. doi: 10.1007/s12185-014-1516-z. Epub 2014 Jan 29.
Relationships of Swiss-type heterocellular HPFH as functions of XmnI-(G)γ and HBBP1:rs2071348 polymorphisms and HbF, HbE, MCV and MCH in HbE carriers were evaluated in 52 non-anemic and α-thalassemia-free Thai HbE carriers. HbF and HbE levels were measured using cation-exchange HPLC. MCV and MCH were determined using an automated blood counter. The XmnI-(G)γ polymorphism was identified by XmnI digestion of amplified products, and the HBBP1:rs2071348 polymorphism by tetra-ARMS-PCR. HbF levels in HbE carriers were higher than those in normal individuals. HbF levels >0.8 % indicated the Swiss-type heterocellular HPFH in these subjects, rendering a prevalence of 40.4 %. The XmnI-(G)γ (+) and HBBP1:rs2071348 (C) alleles were modestly positively correlated with elevated HbF, elevated MCH and lowered HbE values. This study thus confirms the influence of the XmnI-(G)γ and HBBP1:rs2071348 polymorphisms on HbF production. The present study demonstrates the association of XmnI-(G)γ and HBBP1:rs2071348 with HbF, HbE, MCV and MCH in HbE carriers for the first time, and highlights the effect of elevated HbF production on HbE levels.
在52名非贫血且无α地中海贫血的泰国HbE携带者中，评估了瑞士型异细胞遗传性胎儿血红蛋白持续存在（HPFH）与XmnI-(G)γ和HBBP1:rs2071348多态性以及HbF、HbE、平均红细胞体积（MCV）和平均红细胞血红蛋白含量（MCH）之间的关系。使用阳离子交换高效液相色谱法测量HbF和HbE水平。使用自动血液计数器测定MCV和MCH。通过对扩增产物进行XmnI酶切鉴定XmnI-(G)γ多态性，通过四重扩增不应变突变系统聚合酶链反应（tetra-ARMS-PCR）鉴定HBBP1:rs2071348多态性。HbE携带者的HbF水平高于正常个体。HbF水平>0.8%表明这些受试者存在瑞士型异细胞HPFH，患病率为40.4%。XmnI-(G)γ（+）和HBBP1:rs2071348（C）等位基因与升高的HbF、升高的MCH和降低的HbE值呈适度正相关。因此，本研究证实了XmnI-(G)γ和HBBP1:rs2071348多态性对HbF产生的影响。本研究首次证明了XmnI-(G)γ和HBBP1:rs2071348与HbE携带者的HbF、HbE、MCV和MCH之间的关联，并强调了HbF产生增加对HbE水平的影响。
