我院地中海貧血的基因型特點

孔鳳珍 吳贊開 溫嘉敏 劉惠

[摘要]目的 研究我院地中海貧血的基因型特點。方法 選取2016年1月～2018年6月在我院接受健康體檢及產前檢測的1600例受檢人員實施項目數據指標分析，采用聚合酶鏈式反應法+膜雜交法測定全部受檢人員的α地中海貧血或β地中海貧血型別，統計檢測結果。結果 1600例受檢人員中，地中海貧血的檢出率為47.19%，比較常見的有SEA雜合缺失的α地中海貧血、41-42位點雜合突變的β地中海貧血、3.7雜合缺失的α地中海貧血、654位點雜合突變的β地中海貧血、-28位點雜合突變的β地中海貧血、3.7缺失復合東南亞型缺失的α地中海貧血、17位點雜合突變的β地中海貧血及4.2雜合缺失的α地中海貧血、71-72位點雜合突變的β地中海貧血。結論 我院α地中海貧血型別以SEA雜合缺失為主，β地中海貧血型別以41-42位點雜合突變為主，需要加強咨詢和干預管理，控制及減少地中海貧血情況。

[關鍵詞]α地中海貧血;β地中海貧血;型別

[中圖分類號] R556.61? ? ? ? ? [文獻標識碼] A? ? ? ? ? [文章編號] 1674-4721（2020）3（c）-0156-04

Genotypic characteristics of thalassemia in our hospital

KONG Feng-zhen? ?WU Zan-kai? ?WEN Jia-min? ?LIU Hui

Department of Laboratory， People′s Hospital of Gaoyao District in Zhaoqing City， Guangdong Province， Zhaoqing? ?526040， China

[Abstract] Objective To study the genotypic characteristics of thalassemia in our hospital. Methods From January 2016 to June 2018， 1600 health examinees and prenatal examinees in our hospital were selected and analyzed for item data. The α thalassemia or β thalassemia types of all the examinees were determined by polymerase chain reaction and membrane hybridization， and the statistical results were obtained. Results Among the 1600 subjects， the detection rate of thalassemia was 47.19%. The most common ones were α thalassemia with SEA heterozygosity deletion， β thalassemia with 41-42 heterozygosity mutation， α thalassemia with 3.7 heterozygosity deletion， β thalassemia with 654 heterozygosity mutation， β thalassemia with -28 heterozygosity mutation， 3.7 deletion combined with Southeast Asia type deletion of alpha thalassemia， 17-locus heterozygous mutation of beta-thalassemia and 4.2-locus heterozygous deletion of alpha-thalassemia， 71-72 locus heterozygous mutation of β thalassemia. Conclusion In our hospital， the main type of α thalassemia is sea heterozygous deletion， and the main type of β thalassemia is 41-42 heterozygosity mutation. It is necessary to strengthen counseling and intervention management to control and reduce the situation of thalassemia.

[Key words] α thalassemia; β thalassemia; Type

地中海貧血為常見的一種遺傳性血液疾病，α地中海貧血、β地中海貧血是地中海貧血常見的兩種類型，地中海貧血的患病率較高，對地中海貧血患者機體健康帶來不良影響的同時，也導致地中海貧血患者心理健康受到一定影響，同時導致地中海貧血患者的日常生活質量顯著下降[1-2]。不同地區的地中海貧血型別存在一定差異性，中國廣東省地中海貧血人數較多，嚴重損害人們的機體健康[3-4]。因此，實行地中海貧血檢測具有重要價值，有助于盡早檢出地中海貧血并予以及時干預[5-6]。……