血色素E症帶因者－病例報告

血色素E症帶因者(HbE trait)或同合子者(homozygotes)，可能出現輕微貧血，紅血球體積稍小等現象，但臨床上無顯著症狀。若與乙型海洋性貧血帶因者(* thalassemia carrier)結婚，則可能生出患有血色素E－乙型海洋性貧血(HbE/* thalassemia)之子女，該病病患臨床上表現差異很大，部分病患嚴重貧血需終生接受輸血治療。本病患是一位23歲越南女性，其血色素值正常(12.4 g/dL)，平均血球體積偏低(74 fL)，血色素電泳顯示：HbA 65.7%，HbE 34.3%，基因檢查證實為HbE trait(*-globin gene codon 26 GAG to AAG突變)。血色素E原本多流行於東南亞國家，但近年來有不少東南亞婦女移入台灣。對來自東南亞孕婦進行產前檢查時，應注意其是否為血色素E症帶因者，如有需要應加作血色素電泳檢查。若確定為帶因者，則應給予適當的產前遺傳診斷及諮詢。

關鍵字

血色素E ；海洋性貧血；電泳

並列摘要

People heterozygous and homozygous for HbE are microcytic, minimally anemic, and asymtomatic; but if married to the carriers of * thalassemia, couples are at high risk of having children with HbE/* thalassemia. That would be a health burden to patients, families, and their communities. We report a case of a 23-year-old Vietnamese female with a low mean corpuscular volume (74 fL). Hemoglobin electrophoresis revealed her HbA to be 65.7% and HbE to be 34.3%. A *-globin gene codon 26 GAC-to-AAG mutation was confirmed by DNA studies. HbE is most prevalent in Southeast Asia. Recently, HbE has also become increasingly common in Taiwan, with the increasing size and importance of the population of Southeast Asian females here. For pregnant women from Southeast Asia, hemoglobin electrophoresis should be included as a part of their antenatal care. Once the HbE trait is diagnosed, a proper prenatal diagnosis should be made and appropriate genetic counseling should be initiated.

並列關鍵字

HbE ； thalassemia ； electrophoresis

國際替代計量

血色素E症帶因者－病例報告

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