台灣首度發現之Hb Yoshizuka 的臨床檢驗策略

Clinical Laboratory Strategy for Hb Yoshizuka First Found in Taiwan

Hb Yoshizuka在教科書裏已指出會造成輕微貧血及紫紺（cyanosis），在台灣則還未被發表過；另外，也不存在Bio-Rad D10及MINICAP等平台的資料庫中。本實驗檢驗方法使用了高效率液體層析儀 （high-performance liquid chromatography; HPLC；Bio-Rad D10）、毛細管電泳（capillary electrophoresis; CE；SEBIA Minicap）、鹼性膠片電泳（alkaline agarose gel electrophoresis；SEBIA HYDEAGEL）及Sanger’s直接定序核酸序列。結果顯示，Hemoglobin Yoshizuka在HPLC之retention time的位置約是1.21、毛細管電泳則會出現在Z10的位置（介於130-140之間）；而在鹼性膠片電泳的位置則很接近Hb A及Hb Kaohsiung。直接定序結果確認是乙型血色素多肽鏈基因的變異，c.325A>G; Asn108Asp；此變異與Hb Yoshizuka的變異符合。總而言之，我們建立了Hb Yoshizuka在各種分析平台的數據，提供臨床檢驗參考。

Patients with Hb Yoshizuka, already addressed in the textbooks, could result in mild anemia and cyanosis; however, this hemoglobin was never reported in Taiwan. There is no record stating the position of this hemoglobin in the Bio-Rad D10 and MINICAP platforms. By using high-performance liquid chromatography (HPLC; Bio-Rad D10), capillary electrophoresis (CE; SEBIA Minicap) and agarose electrophoresis (Sebia HYDRAGEL), an Hb variant was noted. In HPLC, the retention time of this Hb variant is about 1.21. In capillary electrophoresis, this Hb variant appeared in Z10 position (between 130 and 140). In alkaline electrophoresis, the location of this variant is very close to Hb A and Hb Kaohsiung. Direct sequencing results demonstrated a heterozygote mutant in β-globin gene, c.325A> G; Asn108Asp, which was compatible with Hemoglobin Yoshizuka. In conclusion, we establish a laboratory diagnosis strategy for this rare hemoglobin variant, Hb Yoshizuka.