儿童地中海贫血误诊四例分析

doi:10.3877/cma.j.issn.1674-0785.2023.11.012

中华临床医师杂志(电子版) ›› 2023, Vol. 17 ›› Issue (11) : 1206 -1208. doi: 10.3877/cma.j.issn.1674-0785.2023.11.012

临床病例研究

儿童地中海贫血误诊四例分析

赵宾洋, 吴珺^†(

), 王会娟, 张欣, 沙玉英, 陈琳, 田明达

100043　北京，北京大学首钢医院儿科

收稿日期:2022-06-30 出版日期:2023-11-15
通信作者: 吴珺
基金资助:
北京市2021年度慢性病防治与健康教育科研项目(BJMB0012021025011); 2021年北京大学首钢医院高层次引进人才科研启动项目(GCCRC202105)

Thalassemia misdiagnosed as iron deficiency anemia: analysis of four cases

Binyang Zhao, Jun Wu^†(), Huijuan Wang, Xin Zhang, Yuying Sha, Lin Chen, Zhuyan Duan

Department of Pediatrics, Peking University Shougang Hostipal, 100043 Beijing, China

Received:2022-06-30 Published:2023-11-15
Corresponding author: Jun Wu

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目的

分析4例地中海贫血误诊漏诊的原因，为正确诊治提供经验。

方法

回顾性分析我院4例地中海贫血患儿的诊治过程，分析其误诊漏诊的原因，并与营养性缺铁性贫血进行鉴别。

结果

4例患儿病初诊断为营养性缺铁性贫血，予补铁治疗后血红蛋白无改善，最终3例确诊为β-地中海贫血，1例确诊为营养性缺铁性贫血合并α-地中海贫血。

结论

地中海贫血在低发地区容易误诊漏诊，尤其当小细胞低色素性贫血补铁治疗不佳时，需警惕是否存在地中海贫血。

关键词: β-地中海贫血, α-地中海贫血, 营养性缺铁性贫血, 误诊漏诊

Objective

To analyze the causes of misdiagnosis of thalassemia to improve its recognition and accurate diagnosis.

Methods

The clinical manifestations of four cases of thalassemia were retrospectively analyzed, and the difference between thalassemia and iron deficiency anemia was explored.

Results

All four cases were diagnosed as iron deficiency anemia initially. After iron supplementation was ineffective, three cases was finally diagnosed as β-thalassemia and one as iron deficiency anemia combined with α-thalassemia.

Conclusion

Thalassemia is easy to be misdiagnosed clinically. When the treatment of iron supplementation for microcytic hypochromic anemia is ineffective, the possibility of thalassemia should be considered.

Key words: β-thalassemia, α-thalassemia, Iron deficiency anemia, Misdiagnosis

表1 4例地中海贫血患儿的贫血指标及基因结果

病例	性别	起病年龄（月）	病初首次血液学指标			我院就诊时血液学指标			基因结果	临床表型
病例	性别	起病年龄（月）	HGB（g/L）	MCV（fl）	MCH（pg）	HGB（g/L）	MCV（fl）	MCH（pg）	基因结果	临床表型
1	男	1	98	87.4	33.7	105	62.5	20.6	β^CD41-42/β^N	轻型
2	女	6	85	68.6	24.0	108	52.9	17.7	β^CD41-42/β^N	轻型
3	女	6	94	62.2	23.8	90	59.1	19.8	β^CD17/β^N	轻型
4	女	8	83	57.0	20.6	94	75.2	22.6	-α^3.7/αα	静止型

表1 4例地中海贫血患儿的贫血指标及基因结果

病例	性别	起病年龄（月）	病初首次血液学指标			我院就诊时血液学指标			基因结果	临床表型
病例	性别	起病年龄（月）	HGB（g/L）	MCV（fl）	MCH（pg）	HGB（g/L）	MCV（fl）	MCH（pg）	基因结果	临床表型
1	男	1	98	87.4	33.7	105	62.5	20.6	β^CD41-42/β^N	轻型
2	女	6	85	68.6	24.0	108	52.9	17.7	β^CD41-42/β^N	轻型
3	女	6	94	62.2	23.8	90	59.1	19.8	β^CD17/β^N	轻型
4	女	8	83	57.0	20.6	94	75.2	22.6	-α^3.7/αα	静止型

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