本文選題：地中海貧血 + 基因診斷��； 參考：《重慶醫(yī)學(xué)》2017年10期

【摘要】：目的 探討防止嚴(yán)重類型地中海貧血(簡(jiǎn)稱地貧)患兒出生的有效手段和重要意義。方法 2013年1月至2015年12月于該院產(chǎn)前檢查的孕婦及配偶通過(guò)地貧篩查和基因診斷,對(duì)確診的49例同型地貧攜帶者夫婦進(jìn)行羊水地貧產(chǎn)前基因診斷,并在產(chǎn)前診斷后進(jìn)行隨訪。結(jié)果 在49例同型地貧攜帶者夫婦中,基因診斷檢測(cè)出α-地貧主要突變類型為--~(SEA)/αα(50.0%)、-α~(3.7)/αα(36.5%)、-α~(4.2)/αα(11.5%),β-地貧主要突變類型為CD17/N(42.0%)、CD41-42/N(26.0%)、IVS-Ⅱ-654/N(22.0%)。產(chǎn)前診斷檢測(cè)出HbH病4例,Bart′s水腫胎兒2例,重型β-地貧10例,α-地貧攜帶者19例,β-地貧攜帶者10例,α-地貧合并β-地貧1例,健康胎兒3例。隨訪結(jié)果與產(chǎn)前診斷結(jié)果相符。結(jié)論 通過(guò)開(kāi)展地貧產(chǎn)前篩查和產(chǎn)前診斷能有效地防止重癥地貧患兒出生。
[Abstract]:Objective to explore the effective means and significance of preventing the birth of children with severe thalassemia (thalassemia).Methods from January 2013 to December 2015, pregnant women and their spouses were screened for thalassemia and diagnosed by gene diagnosis. 49 couples of the same type of thalassemia carriers were diagnosed by prenatal diagnosis of thalassemia before and after prenatal diagnosis.Results in 49 couples with thalassemia carriers of the same type, the main mutation types of 偽 -thalassemia were detected by genetic diagnosis as SEAA / 偽 偽 50.0A = 3.7N / 偽 偽 36.5N = 4.2N / 偽 偽 = 11.50.The main mutation type of 尾 -thalassemia was CD17 / N2.042.0CD41-42N / 260IVS- 鈪，

本文編號(hào)：1733836