巧合发生严重因子十二缺乏症的情况下，轻度血友病a：一个独特的凝血实验室诊断难题。

IF 1.2 4区医学 Q4 HEMATOLOGY

Blood Coagulation & Fibrinolysis Pub Date : 2025-04-01 Epub Date: 2025-01-24 DOI:10.1097/MBC.0000000000001346

Bipin P Kulkarni, Chandrakala Shanmukhaiah, Kirti Ghargi, Puloma Pandey, Shruti Kharat, Prachi Pawar, Sayali Shinde, Nikesh Kawankar, Sharda Shanbhag

引用次数: 0

摘要

我们提出了一个独特的病例严重因子XII （FXII）缺乏在轻度血友病a患者。这两种遗传性凝血功能障碍的共存给实验室诊断带来了挑战。我们讨论临床表现，实验室结果，和分子特征的这一独特的情况下。

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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Coincidental occurrence of severe factor XII deficiency in a case of mild hemophilia A: a unique coagulation laboratory diagnostic conundrum.

We present a unique case of severe factor XII (FXII) deficiency in a mild hemophilia A patient. The co-occurrence of these two inherited coagulation disorders poses laboratory diagnostic challenges. We discuss the clinical presentation, laboratory findings, and molecular characterization of this unique case.

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来源期刊

Blood Coagulation & Fibrinolysis 医学-血液学

CiteScore

1.90

自引率

0.00%

发文量

111

审稿时长

4-8 weeks

期刊介绍： Blood Coagulation & Fibrinolysis is an international fully refereed journal that features review and original research articles on all clinical, laboratory and experimental aspects of haemostasis and thrombosis. The journal is devoted to publishing significant developments worldwide in the field of blood coagulation, fibrinolysis, thrombosis, platelets and the kininogen-kinin system, as well as dealing with those aspects of blood rheology relevant to haemostasis and the effects of drugs on haemostatic components