特殊罕見海洋性貧血類型：Hb Zurich-Albisrieden在兩個台灣家庭之案例分享

A Rare Thalassemia Trait: Hb Zurich- Albisrieden in Two Taiwanese Families

蔡文琦(Wen-Chi Tsai) ； 李建宏(Chien-Hong Lee) ； 蔡淑慧(Shu-Hui Tsai) ； 黃建豪(Chien-Hao Huang) ； 張奕元(Yi-Yuan Chang) ； 黃瓊儀(Chiung-Yi Huang) ； 柯滄銘(Tsang-Min Ko) ； 盧章智(Jang-Jih Lu) ； 張璧月(Pi-Yueh Chang) ； 王美嘉(Mei-Chia Wang)

《Journal of Biomedical & Laboratory Sciences》 34卷1期 (2022/03) Pp. 54-61

摘要

Hb Zurich-Albisrieden會造成α球蛋白高度不穩定，台灣並未報導過。案例一產前有胎兒水腫，出生後海洋性貧血基因型結果為東南亞型（Southeast Asian；SEA）加Hb Zurich-Albisrieden(--^(SEA)/αα^(Zurich-Albisrieden))，因嚴重貧血而持續輸血，骨髓移植後經血液常規檢查確認移植成效良好，是目前首例這種型別組合出生後接受骨髓移植成功的案例；同時期北部亦發現另一案例家族。由2016年臨床案例加做α球蛋白定序了解Hb Zurich-Albisrieden在國人的分布狀況，僅發現案例一，顯示Hb Zurich-Albisrieden在台灣仍然罕見，但建議Hb Zurich-Albisrieden仍應納入國人的帶因者篩檢中。

關鍵字

Thalassemia ； Hb Zurich-Albisrieden ； SEA ； Hb Hydrop ； Hb Barts

並列摘要

Hb Zurich-Albisrieden which has never been reported in Taiwan could cause highly unstable alpha hemoglobin. Case 1 shown fetal edema (Hb Hydrop) was found in prenatal ultrasound. The result of postnatal thalassemia genotype was compound of Southeast Asian type and Hb Zurich-Albisrieden (--^(SEA)/αα^(Zurich-Albisrieden)). Before bone marrow transplantation (BMT), case 1 required continuous blood transfusion because of severe anemia. When BMT was applied, following complete blood count reflected data within normal. This is the first case who suffered from compound of Southeast Asian type and Hb Zurich-Albisrieden (--^(SEA)/αα^(Zurich-Albisrieden)) and cured by BMT. At the same time, the other Hb Zurich-Albisrieden family was found in north of Taiwan. To understand the frequency of Hb Zurich-Albisrieden in Taiwan, alpha-globin sequencing was applied to detect Hb Zurich-Albisrieden from clinical samples of 2016. Except to case 1, there was no other finding of Hb Zurich-Albisrieden. This revealed Hb Zurich-Albisrieden is rare in Taiwan but should be considered in thalassemia carrier screening.

並列關鍵字

Thalassemia ； Hb Zurich-Albisrieden ； SEA ； Hb Hydrop ； Hb Barts