识别血友病 B 携带者：APTT、IX 因子水平和 IX 因子与其他维生素 K 依赖性因子比率的实用性。

IF 3 2区医学 Q2 HEMATOLOGY

Haemophilia Pub Date : 2024-06-24 DOI:10.1111/hae.15068

Michael Shu, Caroline Malcolmson, Alessandra Bosch, Teodora Markovic, Cindy Wakefield, Vanessa Bouskill, Manuel Carcao

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引用次数: 0

摘要

导言：诊断 B 型血友病（HB）携带者身份对于控制携带者出血和预防潜在后代出血非常重要。如果没有血友病家族史，诊断 B 型血友病携带者就很困难。目的：描述活化部分凝血活酶时间（aPTT）和因子 IX 凝固剂（FIX:C）水平在 HB 携带者中的分布情况，并评估 FIX:C 与其他维生素 K 依赖因子（FII:C、FVII:C、FX:C）的比率，作为 HB 携带者状态的指标：在这项回顾性单中心队列研究中，如果受试者是强制性或经基因证实的 HB 携带者，则将其纳入研究范围。研究描述了 aPTT 和 FIX:C 的分布，并分析了携带者的 FIX:C 水平与家族性 HB 严重程度之间的关系。计算了 FIX:C 与 FII:C、FVII:C、FX:C 的比率：结果：共纳入 72 名女性 HB 携带者（中位年龄：34 岁；IQR 24-43）。aPTT 和 FIX:C 水平的中位数分别为 33.0 秒 [IQR 30.0-37.0] 和 57 IU/dL [IQR43-74]。15 名携带者（21%）有轻度 HB（FIX:C 水平为 10-40 IU/dL）。与中度/重度 HB 携带者相比，轻度 HB 携带者的 FIX:C 水平呈上升趋势。在 6 名携带者中，FIX:C 与其他维生素 K 依赖因子的中位比值为 0.44，92% 的比值小于 0.75。FIX:C 与其他维生素 K 依赖因子的低比值可能是 HB 携带者状态的有用标记。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Identifying hemophilia B carriers: Utility of aPTT, factor IX levels and ratios of factor IX to other Vitamin K dependent factors

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Identifying hemophilia B carriers: Utility of aPTT, factor IX levels and ratios of factor IX to other Vitamin K dependent factors

Introduction

Diagnosing hemophilia B (HB) carrier status is important to manage bleeding in carriers and to prevent bleeding in potential offspring. Without a family history of hemophilia, diagnosing HB carrier status is challenging. Genetic testing is the gold-standard, however it is reserved for individuals with a high suspicion of carrier status.

Aims

To describe the distribution of activated partial thromboplastin time (aPTT) and factor IX coagulant (FIX:C) levels in HB carriers and assess the ratio of FIX:C to other Vitamin K dependent factors (FII:C, FVII:C, FX:C) as an indicator of HB carrier status.

Methods

In this retrospective, single-centre cohort study, subjects were included if they were obligate or genetically proven HB carriers. Distributions of aPTT and FIX:C were described and the relationship between FIX:C levels in carriers and severity of familial HB was analysed. Ratios of FIX:C to FII:C, FVII:C, FX:C were calculated.

Results

Seventy-two female HB carriers (median age: 34 years; IQR 24–43) were included. Median aPTT and FIX:C levels were 33.0 s [IQR 30.0–37.0] and 57 IU/dL [IQR 43–74]. Fifteen carriers (21%) had mild HB (FIX:C levels of 10–40 IU/dL). FIX:C levels trended higher in carriers of mild HB versus carriers of moderate/severe HB. In six carriers, the median ratio of FIX:C to other Vitamin K dependent factors was 0.44, with 92% of ratios being ≤ 0.75.

Conclusion

aPTT and FIX:C levels were unreliable in diagnosing HB carrier status. A low ratio of FIX:C to other Vitamin K dependent factors may be a useful marker of HB carrier status.

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来源期刊

Haemophilia 医学-血液学

CiteScore

6.50

自引率

28.20%

发文量

226

审稿时长

3-6 weeks

期刊介绍： Haemophilia is an international journal dedicated to the exchange of information regarding the comprehensive care of haemophilia. The Journal contains review articles, original scientific papers and case reports related to haemophilia care, with frequent supplements. Subjects covered include: clotting factor deficiencies, both inherited and acquired: haemophilia A, B, von Willebrand''s disease, deficiencies of factor V, VII, X and XI replacement therapy for clotting factor deficiencies component therapy in the developing world transfusion transmitted disease haemophilia care and paediatrics, orthopaedics, gynaecology and obstetrics nursing laboratory diagnosis carrier detection psycho-social concerns economic issues audit inherited platelet disorders.