The Risk of Rapid Deterioration of Sepsis in the Patient with Non-Transfusion-Dependent Thalassemia: A Case Report.

IF 1 4区 医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY
Huiling Gan, Hang Yu, Hidetaka Hara, Tao Li, Yuxiang Chen, Yi Wang
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Abstract

Non-transfusion-dependent thalassemias (NTDT), including thalassemia intermedia (TI), are often perceived as less severe than their transfusion-dependent counterparts. However, they impose a significant health burden, manifesting in complications such as splenomegaly, iron overload, skeletal deformities, and cardiopulmonary diseases. This case report aims to enhance understanding of the complexities associated with NTDT, particularly regarding the rapid progression of infection and the associated challenges in management. We report the case of a 62-year-old male farmer from a high-incidence region of thalassemia in China. He was diagnosed with αNTDT during a medical evaluation. His baseline hemoglobin levels were 7 g/dL at the time of genetic testing for thalassemia and 7.2 g/dL upon hospital admission prior to infection. His clinical phenotype was classified as thalassemia intermedia. The patient presented with significant comorbidities, including chronic anemia, iron overload, and pulmonary hypertension, which contributed to his rapid clinical deterioration. Within two months of his definitive diagnosis, the patient developed sepsis that rapidly progressed to multiple organ dysfunction syndrome, leading to death 43 h after admission. Sepsis in patients with NTDT progresses rapidly and is associated with a high mortality rate, primarily due to the compounded burden of chronic anemia, iron overload, and immune dysfunction. This case highlights the need for increased clinical awareness to facilitate early diagnosis and prompt management, even in αNTDT, which is generally considered a milder disorder compared to βNTDT. Enhancing community awareness and implementing proactive healthcare strategies, particularly in high-incidence areas, may significantly reduce adverse health outcomes in patients with NTDT.

非输血依赖型地中海贫血患者败血症迅速恶化的风险:一例报告。
非输血依赖型地中海贫血(NTDT),包括中度地中海贫血(TI),通常被认为不如输血依赖型地中海贫血严重。然而,它们造成了严重的健康负担,表现为脾肿大、铁超载、骨骼畸形和心肺疾病等并发症。本病例报告旨在加强对与NTDT相关的复杂性的理解,特别是关于感染的快速进展和管理方面的相关挑战。我们报告一位来自中国地中海贫血高发地区的62岁男性农民的病例。在医学评估中,他被诊断为αNTDT。他的基线血红蛋白水平在地中海贫血基因检测时为7 g/dL,感染前入院时为7.2 g/dL。临床表型为中地中海贫血。患者表现出明显的合并症,包括慢性贫血、铁超载和肺动脉高压,这导致了他的临床迅速恶化。确诊后两个月内,患者出现败血症,并迅速发展为多器官功能障碍综合征,入院43小时后死亡。NTDT患者的败血症进展迅速,并伴有高死亡率,主要是由于慢性贫血、铁超载和免疫功能障碍的复合负担。该病例强调需要提高临床意识,以促进早期诊断和及时治疗,即使是αNTDT,与βNTDT相比,αNTDT通常被认为是一种较轻的疾病。加强社区意识和实施积极的医疗保健战略,特别是在高发病率地区,可能会显著减少NTDT患者的不良健康结果。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Hemoglobin
Hemoglobin 医学-生化与分子生物学
CiteScore
1.70
自引率
10.00%
发文量
59
审稿时长
3 months
期刊介绍: Hemoglobin is a journal in the English language for the communication of research and information concerning hemoglobin in humans and other species. Hemoglobin publishes articles, reviews, points of view The journal covers topics such as: structure, function, genetics and evolution of hemoglobins biochemical and biophysical properties of hemoglobin molecules characterization of hemoglobin disorders (variants and thalassemias), consequences and treatment of hemoglobin disorders epidemiology and prevention of hemoglobin disorders (neo-natal and adult screening) modulating factors methodology used for diagnosis of hemoglobin disorders
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