Association between phenotype and genotype in carriers of haemophilia A
Association between phenotype and genotype in carriers of haemophilia A
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DOI：
10.1111/j.1365-2516.2010.02426.x
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发表时间：
2011-03-01
期刊：
影响因子：
3.9
通讯作者：
Oldenburg, J.
中科院分区：
文献类型：
--
作者：
Miesbach, W.;Alesci, S.;Oldenburg, J.
女性血友病携带者可能会遭受出血倾向增加，因此，出血风险的评估是非常重要的，以改善护理。这项单中心研究记录了46名血友病A携带者的眼睑出血发生率，包括拔牙后出血（77%）、容易瘀伤（67%）、术后出血（61%）、月经过多（50%）或产后出血时间延长（43%）。测定所有46名携带者的F8基因突变（中位年龄：36.5岁，15-80岁;平均FVIII：C活性：59 +/- 24.45%;正常范围：64-167%），并记录血友病家族史。为了进行分析，将携带者的出血倾向按严重程度分为三组。两组之间的FVIII：C无统计学显著差异。而出血倾向的严重程度与F8基因突变的类型（P < 0.05）及男性亲属血友病的严重程度（P < 0.0005）有关。结果表明，即使是FVIII：C活性高达50-60%的携带者出血风险也会增加。血友病A携带者出血症状的发生率和强度较高，与男性血友病亲属的表型和潜在的F8基因突变相关。
Female carriers of haemophilia might suffer from increased bleeding tendency therefore the assessment of the bleeding risk is very important for improving care. This single-centre study documents the occurrence of bleedings in 46 carriers of haemophilia A including bleeding after tooth extraction (77%), easy bruising (67%), postsurgical bleeding (61%), menorrhagia (50%) or prolonged postpartum bleeding (43%). The F8 gene mutation of all 46 carriers (median age: 36.5 years, 15-80 years; mean FVIII:C activity: 59 +/- 24.45%; normal range: 64-167%) was determined, and family history of haemophilia was recorded. For analysis, the bleeding tendency of the carriers was differentiated by severity into three groups. There was no statistically significant difference of FVIII:C between these groups. However, a correlation was found between the severity of bleeding tendency and the type of F8 gene mutation (P < 0.05) as well as the severity of haemophilia in affected male relatives (P < 0.0005). Results show that even carriers with a FVIII:C activity as high as 50-60% are at increased risk of bleeding. Incidence and intensity of bleeding symptoms of haemophilia A carriers are high and correlated with the phenotype of the male haemophilic relative and the underlying F8 gene mutation.