[Silent α-Thalassemia Complicated with the Alcohol-Induced Secondary Ring Sideroblastic Anemia].

Q4 Medicine

中国实验血液学杂志 Pub Date : 2025-08-01 DOI:10.19746/j.cnki.issn.1009-2137.2025.04.024

Yan Jiang, Ya Chen, Lan Yang, Wei-Bin Li

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Abstract

Objective: To explore the characteristics of laboratory examination of secondary sideroblastic anemia (SA).

Methods: A retrospective analysis was conducted on the general information of a case of alcohol-induced secondary SA, and relevant domestic and foreign literature was reviewed to summarize the clinical characteristics of this disease.

Results: The patient was diagnosed with microcytic hypochromic anemia, with abnormal red blood cells detected, such as elliptocytes, target cells, and teardrop cells, etc. Iron overload and more than 15% of ring sideroblasts were detected by Perls' Prussian blue staining of bone marrow smear, while periodic acid-schiff (PAS) staining, EGR1 and SF3B1 gene tests were all negative, and rare genotype of Hong Kong α-thalassemia (possibly HKαα/αα or HKαα/-α^3.7) was observed.

Conclusion: Patient medical history and medication history, peripheral blood and bone marrow cytological morphology, genetic testing, cytogenetics, etc. are helpful for the diagnosis of secondary SA.

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[沉默型α-地中海贫血并发酒精诱导的继发性环状铁母细胞贫血]。

目的：探讨继发性铁母细胞性贫血（SA）的实验室检查特点。方法：回顾性分析1例酒精性继发性SA的一般资料，并复习国内外相关文献，总结本病的临床特点。结果：患者诊断为小细胞性低色性贫血，检测到红细胞异常，如椭圆细胞、靶细胞、泪滴细胞等。骨髓涂片Perls - Prussian blue染色检测到铁超载和15%以上的环状铁母细胞，而周期性酸希夫（PAS）染色、EGR1和SF3B1基因检测均为阴性，观察到罕见的香港α-地中海贫血基因型（可能为HKαα/αα或HKαα/-α3.7）。结论：患者病史、用药史、外周血及骨髓细胞学形态学、基因检测、细胞遗传学等有助于继发性SA的诊断。

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