Coexpression of factor VIII and factor von Willebrand variants in a woman with heavy menstrual bleeding

被引:0
作者
Casini, Alessandro [1 ,2 ]
Yaron, Michal [3 ]
Couzens, Alexander [4 ]
Fontana, Pierre [1 ,2 ]
Neerman-Arbez, Marguerite [4 ]
机构
[1] Univ Hosp Geneva, Div Angiol & Hemostasis, Rue Gabrielle Perret Gentil 14, CH-1205 Geneva, Switzerland
[2] Fac Med, Rue Gabrielle Perret Gentil 14, CH-1205 Geneva, Switzerland
[3] Univ Hosp Geneva, Div Gynaecol, Geneva, Switzerland
[4] Univ Geneva, Fac Med, Dept Genet Med & Dev, Geneva, Switzerland
关键词
genetics; haemophilia; von Willebrand disease; HEMOPHILIA; DISEASE; ALLELE;
D O I
10.1097/MBC.0000000000001217
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Heavy menstrual bleeding is one of the most common causes of consultation in haematology. We present the clinical case of a 20-year-old woman referred by her gynaecologist due to heavy menstrual bleeding since menarche, complicated by iron deficiency anaemia. Haemostasis work-up was initially suggestive of a von Willebrand disease type 1. Genetic analyses by whole exome sequencing lead to a fortuitous discovery of haemophilia by identifying a heterozygous missense mutation in F8, exon 8 c.1127T>G:p.Val376Gly, previously reported in a patient with mild haemophilia A. The bleeding phenotype worsened by concomitant low von Willebrand factor (VWF) due to VWF variants influencing VWF levels. Our case highlights how whole exome sequencing can help to correct an erroneous diagnosis and identify polymorphisms that eventually contribute to the overall haemostatic balance.
引用
收藏
页码:250 / 253
页数:4
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