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| DC 欄位 | 值 | 語言 |
|---|---|---|
| dc.contributor.advisor | 林芯伃 | zh_TW |
| dc.contributor.advisor | Shin-Yu Lin | en |
| dc.contributor.author | 李芷恩 | zh_TW |
| dc.contributor.author | Chih-En Li | en |
| dc.date.accessioned | 2025-09-22T16:05:23Z | - |
| dc.date.available | 2025-09-23 | - |
| dc.date.copyright | 2025-09-22 | - |
| dc.date.issued | 2025 | - |
| dc.date.submitted | 2025-07-21 | - |
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| dc.identifier.uri | http://tdr.lib.ntu.edu.tw/jspui/handle/123456789/99943 | - |
| dc.description.abstract | 背景與研究目的
海洋性貧血為台灣常見之體染色體隱性遺傳疾病，臨床上多以平均紅血球容積(MCV)與平均紅血球血紅素(MCH)作為初步篩檢指標。然而，部分輕度甲型（如: -α3.7、-α4.2、Hb Constant Spring）與乙型（如: CD26）帶因者，其血液學數值可能高於傳統臨界值(MCV >80 fL、MCH >27 pg)，導致帶因者被誤判為陰性。若帶因夫妻雙方皆未被檢出，則可能產下中度或重度海洋性貧血胎兒，造成嚴重臨床後果。本研究旨在重新評估現行臨界值設定的敏感度與特異性，探討更合適的篩檢門檻，以提升診斷效能與遺傳風險預防能力。 材料與方法 本研究為回溯性設計，分析自2000年至2024年間產前檢查之成人全血球檢驗與基因檢測數據，並依據基因型分為甲型與乙型海洋性貧血帶因者進行分析。篩檢條件設為多組MCV(80–84 fL)、MCH <27 pg，及其複合條件，並比較其篩檢效能，包括敏感度、特異性、陽性預測值與陰性預測值。 研究結果 甲型帶因者中，以SEA型α⁰缺失最常見，右端缺失型(-α3.7)、左端缺失型(-α4.2)與CS型則顯示紅血球數值接近或高於臨界值。乙型帶因者以IVS-II-654與CD41/42為主，CD26型亦觀察到部分數值偏高。結果顯示，將MCV臨界值提高至84 fL可顯著提升敏感度（達98%以上），但特異性相對下降。MCH ≤27 pg 則呈現穩定且平衡之篩檢效能。當採用「MCV ≤82 或 MCH ≤27」的條件時，敏感度可提升至99%以上，有效降低假陰性率。 討論 傳統MCV ≤80 fL作為單一篩檢門檻，可能無法涵蓋紅血球指標位於邊緣的帶因者，尤其為輕度或非缺失型變異者。MCH指標則展現更穩定的表現，不易受檢體狀況影響。複合條件雖降低部分特異性，但可大幅提升整體篩檢效益，對於提升臨床偵測潛在高風險帶因者具重要意義。 結論 建議台灣現行海洋性貧血之篩檢標準應調整，採用「MCH ≤27 pg 或 MCV ≤82 fL」作為初篩條件，更能兼顧高敏感度與實務可行性。此一策略有助於降低中重度患兒出生風險，並提升產前遺傳諮詢與疾病預防之整體準確性與品質。 | zh_TW |
| dc.description.abstract | Background and Objectives
Thalassemia is a common autosomal recessive disorder in Taiwan. Current screening mainly relies on mean corpuscular volume (MCV) ≤80 fL and mean corpuscular hemoglobin (MCH) ≤27 pg. However, certain α-thalassemia genotypes (e.g., -α3.7, -α4.2, Hb Constant Spring) and β-thalassemia variants (e.g., CD26) may present values above these thresholds, leading to missed diagnoses. If both carriers are undetected, they may conceive a fetus with moderate or severe thalassemia. This study aimed to re-evaluate the current cutoffs and propose more effective screening criteria. Materials and Methods A retrospective analysis was conducted using adult prenatal CBC and genotyping data from 2000 to 2024. We assessed multiple MCV thresholds (80–84 fL), MCH <27 pg, and combined conditions to evaluate sensitivity, specificity, and predictive values. Results SEA type α⁰ deletion was most prevalent. Mild variants like -α3.7, -α4.2, and Hb CS type showed borderline or elevated MCV/MCH values, as did CD26 among β-thalassemia cases. Raising the MCV cutoff improved sensitivity (up to >98%) but reduced specificity. MCH ≤27 pg showed more stable performance. The combined criterion “MCV ≤82 fL or MCH ≤27 pg” achieved >99% sensitivity with fewer false negatives. Discussion The current MCV cutoff may miss carriers with mild mutations. MCH is a more reliable standalone marker. Combined screening improves detection, though with slightly reduced specificity, and is especially valuable in preventing high-risk pregnancies. Conclusion We recommend adopting “MCV ≤82 fL or MCH ≤27 pg” as the screening threshold in Taiwan to enhance sensitivity, reduce missed cases, and improve prenatal thalassemia prevention. | en |
| dc.description.provenance | Submitted by admin ntu (admin@lib.ntu.edu.tw) on 2025-09-22T16:05:23Z No. of bitstreams: 0 | en |
| dc.description.provenance | Made available in DSpace on 2025-09-22T16:05:23Z (GMT). No. of bitstreams: 0 | en |
| dc.description.tableofcontents | 誌謝 i
中文摘要 ii 英文摘要 iv 第一章 緒論 1 第一節 疾病介紹 1 第二節 研究動機與目的 2 第二章 文獻探討 3 第一節 甲型海洋性貧血(α-thalassemia) 3 i.單一α球蛋白基因缺失(Single α-globin gene mutation) 4 ii.兩個α球蛋白基因缺失(Two α-globin gene mutations) 6 iii.三個α球蛋白基因缺失(Three α-globin gene mutations) 8 iv.四個α球蛋白基因缺失(Four α-globin gene mutations) 8 第二節 乙型海洋性貧血(β-thalassemia) 9 i. 輕度乙型海洋性貧血(Thalassemia Minor) 10 ii.中度乙型海洋性貧血(Thalassemia Intermedia) 11 iii.重度乙型海洋性貧血(Thalassemia Major) 11 第三節 海洋性貧血篩檢與診斷 13 第三章 研究方法 16 第一節 研究設計 16 第二節 研究對象 17 第四章 研究結果 17 第一節 甲型海洋性貧血帶因者之基因型分布 18 第二節 甲型海洋性貧血帶因者之檢驗數值與臨界值分析 18 第三節 乙型海洋性貧血帶因者之基因型分布 19 第四節 乙型海洋性貧血帶因者之檢驗數值與臨界值分析 19 第五節 血液檢驗項目臨界值之分析結果 20 第五章 討論 22 第一節 基因型分布之探討 22 第二節 探討偽陰性基因型的統計 22 第三節 討論篩檢工具的優與缺 24 第四節 探討中/重度海洋性貧血的遺傳模式 24 第五節 探討Hb H disease的遺傳諮詢 26 第六節 不同篩檢項目與條件之討論 27 第六章 結論 29 第七章 參考文獻 30 圖表與附錄 41 | - |
| dc.language.iso | zh_TW | - |
| dc.subject | 基因型 | zh_TW |
| dc.subject | 海洋性貧血篩檢 | zh_TW |
| dc.subject | Hb H疾病 | zh_TW |
| dc.subject | MCH 臨界值 | zh_TW |
| dc.subject | MCV 臨界值 | zh_TW |
| dc.subject | MCV cutoff | en |
| dc.subject | MCH cutoff | en |
| dc.subject | HbH disease | en |
| dc.subject | genotype | en |
| dc.subject | Thalassemia screening | en |
| dc.title | 重新審視海洋性貧血帶因者篩檢之標準 | zh_TW |
| dc.title | Re-evaluating the Screening Criteria for Thalassemia Carriers | en |
| dc.type | Thesis | - |
| dc.date.schoolyear | 113-2 | - |
| dc.description.degree | 碩士 | - |
| dc.contributor.oralexamcommittee | 柯滄銘;李建南 | zh_TW |
| dc.contributor.oralexamcommittee | Tsang-Ming Ko;Chien-Nan Lee | en |
| dc.subject.keyword | 海洋性貧血篩檢,基因型,MCV 臨界值,MCH 臨界值,Hb H疾病, | zh_TW |
| dc.subject.keyword | Thalassemia screening,genotype,MCV cutoff,MCH cutoff,HbH disease, | en |
| dc.relation.page | 67 | - |
| dc.identifier.doi | 10.6342/NTU202501966 | - |
| dc.rights.note | 同意授權(全球公開) | - |
| dc.date.accepted | 2025-07-22 | - |
| dc.contributor.author-college | 醫學院 | - |
| dc.contributor.author-dept | 分子醫學研究所 | - |
| dc.date.embargo-lift | 2030-08-01 | - |
| 顯示於系所單位： | 分子醫學研究所 | |
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