Korean J Hematol 2011; 46(1):
Published online March 31, 2011
https://doi.org/10.5045/kjh.2011.46.1.49
© The Korean Society of Hematology
1Department of Biological Science, College of Natural Sciences, Ajou University, Suwon, Korea.
2Department of Hematology-Oncology, School of Medicine, Ajou University, Suwon, Korea.
Correspondence to : Correspondence to Hye Sun Kim, Ph.D. Department of Biological Science, College of Natural Sciences, Ajou University, Woncheon-Hall 204, Woncheon-dong, Youngtong-gu, Suwon 443-749, Korea. Tel: +82-31-219-2622, Fax: +82-31-219-1615, hsunkim@ajou.ac.kr
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Although uncommon, acquired hemophilia A (HA) is associated with a high rate of mortality due to severe bleeding. In spite of many hypotheses regarding the cause of acquired HA, there is as yet no established theory. In this study, we investigated the possibility that mutation(s) in the
Keywords Haemophilia A, Mutation profiling, Sequence variation, Acquired haemophilia A
Although the incidence of acquired hemophilia A (HA) is low in the general population, i.e., approximately 1-4 cases per million annually, it is a potentially life-threatening bleeding disorder. HA is characterized by the development of autoantibodies directed against plasma clotting factors, most frequently coagulation factor VIII (FVIII) [1, 2]. The development of autoantibodies leads to FVIII deficiency, which results in insufficient generation of thrombin [3]. Acquired HA is one of several autoimmune diseases, in which patients previously experienced normal hemostasis [4]. The age distribution of patients with acquired HA follows a biphasic trend, with a minor peak in young postpartum women and a major peak at 60-80 years in patients with other autoimmune disorders [2]. Although acquired HA is thought to be related to dysfunction of the immune system, the cause of this disorder remains unclear.
The
We examined the
To profile the
In this study, we found that 2 Korean acquired HA patients shared a common point mutation, c.8899G>A, in the 3'-UTR of exon 26 of the
In contrast to these mutations, which occurred in coding regions, the mutation found in this study is located in the 3'-UTR region. Thus, we considered the possibility that this mutation is related to susceptibility to developing acquired HA. It has previously been reported that sequence variation in the 3'-UTR is associated with transcriptional modifications, splicing, or mRNA stability [12, 13]. In 5 families with hemophilia B (HB), a point mutation in the 3'-UTR of the
Although the number of patients in this study is too few to make any important conclusions regarding the cause of acquired HA, we expect that the novel mutation discovered in this study may contribute to our understanding of the cause(s) of acquired HA. To the best of our knowledge, this is the first report on the genotyping of
Korean J Hematol 2011; 46(1): 49-51
Published online March 31, 2011 https://doi.org/10.5045/kjh.2011.46.1.49
Copyright © The Korean Society of Hematology.
Sung Ho Hwang1, Jeong A Lim1, Hugh Chul Kim2, Hyun Woo Lee2, and Hye Sun Kim1*
1Department of Biological Science, College of Natural Sciences, Ajou University, Suwon, Korea.
2Department of Hematology-Oncology, School of Medicine, Ajou University, Suwon, Korea.
Correspondence to: Correspondence to Hye Sun Kim, Ph.D. Department of Biological Science, College of Natural Sciences, Ajou University, Woncheon-Hall 204, Woncheon-dong, Youngtong-gu, Suwon 443-749, Korea. Tel: +82-31-219-2622, Fax: +82-31-219-1615, hsunkim@ajou.ac.kr
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Although uncommon, acquired hemophilia A (HA) is associated with a high rate of mortality due to severe bleeding. In spite of many hypotheses regarding the cause of acquired HA, there is as yet no established theory. In this study, we investigated the possibility that mutation(s) in the
Keywords: Haemophilia A, Mutation profiling, Sequence variation, Acquired haemophilia A
Although the incidence of acquired hemophilia A (HA) is low in the general population, i.e., approximately 1-4 cases per million annually, it is a potentially life-threatening bleeding disorder. HA is characterized by the development of autoantibodies directed against plasma clotting factors, most frequently coagulation factor VIII (FVIII) [1, 2]. The development of autoantibodies leads to FVIII deficiency, which results in insufficient generation of thrombin [3]. Acquired HA is one of several autoimmune diseases, in which patients previously experienced normal hemostasis [4]. The age distribution of patients with acquired HA follows a biphasic trend, with a minor peak in young postpartum women and a major peak at 60-80 years in patients with other autoimmune disorders [2]. Although acquired HA is thought to be related to dysfunction of the immune system, the cause of this disorder remains unclear.
The
We examined the
To profile the
In this study, we found that 2 Korean acquired HA patients shared a common point mutation, c.8899G>A, in the 3'-UTR of exon 26 of the
In contrast to these mutations, which occurred in coding regions, the mutation found in this study is located in the 3'-UTR region. Thus, we considered the possibility that this mutation is related to susceptibility to developing acquired HA. It has previously been reported that sequence variation in the 3'-UTR is associated with transcriptional modifications, splicing, or mRNA stability [12, 13]. In 5 families with hemophilia B (HB), a point mutation in the 3'-UTR of the
Although the number of patients in this study is too few to make any important conclusions regarding the cause of acquired HA, we expect that the novel mutation discovered in this study may contribute to our understanding of the cause(s) of acquired HA. To the best of our knowledge, this is the first report on the genotyping of
Ja Young Seo, Mi-Ae Jang, Hee-Jung Kim, Ki-O Lee, Sun-Hee Kim, and Hee-Jin Kim
Blood Res 2013; 48(3): 206-210