- 期刊
罕見乙型海洋性貧血：+40 to +43(-AAAC)之案例報告
Case Report of a Rare β-thalassemia Genotype: +40 to +43 (-AAAC)
摘要
Objective: Mutations at the 5'untranslated region (5'UTR) of β-globin are only reported sporadically. Characteristic phenotypes of thalassemia, such as MCV＜80 fL, were usually not demonstrated in patients with such mutations and thus they were usually not identified during current screening program for thalassemia. During the CAP survey for specificity of β-thalassemia screening, one of the volunteer blood samples was accidentally found to have a 4-bps deletion at the position of +40 to +43 (-AAAC) in the β-globin gene sequence. Blood samples were collected from all other five family members for further investigation. Although normal hematological indices were found among the samples, three of them carried the +40 to +43 (-AAAC) deletion. Such deletion has not been reported in Taiwan before. According to recent literature, compound heterozygous individuals could show more severe clinical manifestations than regular β-thalassemia carriers. In case missing any possible silent mutation, we suggest performing β-globin sequence analysis from both parents even when only one of them has identified β-thalassemia phenotype and genotype. This screening strategy will not only help us to identify more underground 5'UTR carriers but also to understand the impact of this kind of silent mutations to affected individuals and their offspring.
並列摘要
Objective: Mutations at the 5'untranslated region (5'UTR) of β-globin are only reported sporadically. Characteristic phenotypes of thalassemia, such as MCV＜80 fL, were usually not demonstrated in patients with such mutations and thus they were usually not identified during current screening program for thalassemia. During the CAP survey for specificity of β-thalassemia screening, one of the volunteer blood samples was accidentally found to have a 4-bps deletion at the position of +40 to +43 (-AAAC) in the β-globin gene sequence. Blood samples were collected from all other five family members for further investigation. Although normal hematological indices were found among the samples, three of them carried the +40 to +43 (-AAAC) deletion. Such deletion has not been reported in Taiwan before. According to recent literature, compound heterozygous individuals could show more severe clinical manifestations than regular β-thalassemia carriers. In case missing any possible silent mutation, we suggest performing β-globin sequence analysis from both parents even when only one of them has identified β-thalassemia phenotype and genotype. This screening strategy will not only help us to identify more underground 5'UTR carriers but also to understand the impact of this kind of silent mutations to affected individuals and their offspring.
延伸閱讀
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- Huang, L. W., Sun, W., & Huang, F. Y. (1994). 以全身性血管內凝血病及血小板過低症表現的川崎氏症：－病例報告. Acta Paediatrica Sinica, 35(4), 341-344. https://doi.org/10.7097/APS.199408.0341
- 曾淑真、張嘉玲、林俊瑛、許富強、許呈安、林亮音（2015）。台灣首度發現的血色素Lepore：一種同時具有乙型海洋性貧血特徵的血色素Lepore-Boston-Washington。Journal of Biomedical & Laboratory Sciences，27(3)，110-114。https://www.airitilibrary.com/Article/Detail?DocID=10137653-201509-201510050002-201510050002-110-114
- 王士忠（2015）。非輸血依賴性的海洋性貧血－一個被忽略的疾病。血管醫學防治季刊，(22)，16-17。https://doi.org/10.6527/PVM.2015.22.8
- 蘇怡寧（2002）。Obstetrics and Gynecology: Genetic Diagnosis of Thalassemia。台灣醫學，6(3)，451-456。https://doi.org/10.6320/FJM.2002.6(3).22