当不稳定血红蛋白兰辛与α地中海贫血和HbS相互作用时:一个具有独特临床表现的有趣病例。

IF 1 4区 医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY
Hemoglobin Pub Date : 2025-07-01 Epub Date: 2025-07-27 DOI:10.1080/03630269.2025.2533221
Adwait Marhatta, Jui Choudhuri, Joseph J Mulvey, Sean Campbell, Yanan Fang
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引用次数: 0

摘要

血红蛋白(Hb)兰辛是一种罕见的轻度不稳定的α珠蛋白变体。在这里,我们报告了一名27岁女性的第一例复合Hb Lansing/HbS共遗传与单一α地中海贫血缺失(-alpha3.7)。患者表现为中度溶血性贫血,脉搏血氧饱和度低,补充氧后无改善。值得注意的是,动脉血气检测显示她的血氧饱和度正常。毛细管电泳和高效液相色谱显示HbS峰和其他异常峰。随后的α珠蛋白基因测序显示,α 2-珠蛋白基因中有一个-alpha3.7 α-珠蛋白缺失拷贝和一个Hb Lansing变体拷贝。已知血红蛋白兰辛会导致虚假的低脉搏血氧测定。此外,Hb Lansing和单个α地中海贫血缺失的共同遗传可能导致其中度溶血性贫血。当遇到意外的低脉搏血氧测定时,及时识别血红蛋白变异对于了解潜在原因,促进遗传咨询,防止不必要的调查和治疗至关重要。还需要进一步的研究来提高我们对各种血红蛋白变体之间相互作用的理解;特别是那些与单个a α地中海贫血缺失相关的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
When Unstable Hemoglobin Lansing Interacts with Alpha Thalassemia Along with HbS: An Interesting Case with Unique Clinical Presentation.

Hemoglobin (Hb) Lansing is a rare mildly unstable variant of α globin. Here, we report the first case of compound Hb Lansing/HbS coinherited with a single α thalassemia deletion (-alpha3.7) in a 27-year-old woman. The patient exhibited moderate hemolytic anemia and low oxygen saturation by pulse oximetry, which failed to improve with supplemental oxygen. Notably, her oxygen saturation levels were normal by arterial blood gas. Capillary electrophoresis and high-performance liquid chromatography showed an HbS peak along with other abnormal peaks. Subsequent α globin gene sequencing revealed one copy of the -alpha3.7 α-globin deletion and one copy of Hb Lansing variant in the alpha2-globin gene. Hemoglobin Lansing is known to cause spuriously low pulse oximetry. Additionally, the co-inheritance of the Hb Lansing and a single α thalassemia deletion may contribute to her moderate hemolytic anemia. The timely identification of hemoglobin variants is crucial for understanding the underlying cause when encountering unexpectedly low pulse oximetry, facilitating genetic counseling, and preventing unnecessary investigations and treatments. Further research is also needed to enhance our comprehension of the interactions among various hemoglobin variants; especially those associated with single a α thalassemia deletion.

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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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