Ann Lab Med.  2016 Mar;36(2):182-184. 10.3343/alm.2016.36.2.182.

Genetic Confirmation of Congenital Factor V Deficiency in Korean Patients

• Park CH
• Yoo K
• Lee KO
• Kim SH
• Sung KW
• Kim HJ

• KMID: 2373522
• DOI: http://doi.org/10.3343/alm.2016.36.2.182

Abstract

No abstract available.

MeSH Terms

Adolescent
Asian Continental Ancestry Group/*genetics
Base Sequence
DNA Mutational Analysis
Factor V/genetics
Factor V Deficiency/congenital/*diagnosis
Female
Heterozygote
Humans
Middle Aged
Mutation, Missense
Partial Thromboplastin Time
Republic of Korea
Factor V

Figure

• 

  Fig. 1 (A) Molecular analyses of F5 in two unrelated Koreans patients with congenital FV deficiency. Proband 1 and her mother were heterozygous for c.286G>C (p.Asp96His) (upper panel). Proband 2 was compound heterozygous for c.6027_6032del GAACAG (p.Asn2010_Ser2011del) and c.6604C>T (p.Arg2202Cys), and her daughter was heterozygous for c.6027_6032 delGAACAG (p.Asn2010_Ser2011del) (lower panel). The arrows indicate the mutations.(B) Comparative genomic analyses by using the CLUSTAL W algorithm showed that the Arg2202 residue, which corresponds to the Arg2326 residue of factor VIII, is highly conserved across mammalian species (indicated by an arrow).

Reference

1. Liu HC, Shen MC, Eng HL, Wang CH, Lin TM. Asp68His mutation in the A1 domain of human factor V causes impaired secretion and ineffective translocation. Haemophilia. 2014; 20:e318–e326. PMID: 24893683.

2. Huang DD, Wang XF, Chen HY, Xu GQ, Zhang LW, Dai J, et al. Analysis of phenotype and genotype in four Chinese pedigrees with inherited coagulation factor V deficiency. Zhonghua Xue Ye Xue Za Zhi. 2010; 31:149–153. PMID: 20510101.

3. Song J, Guella I, Kwon KY, Cho H, Park R, Asselta R, et al. A novel in-frame deletion in the factor V C1 domain associated with severe coagulation factor V deficiency in a Korean family. Blood Coagul Fibrinolysis. 2009; 20:150–156. PMID: 19786944.

4. Cao LJ, Wang ZY, Su YH, Yang HY, Zhao XJ, Zhang W, et al. Gene analysis of five inherited factor V deficiency cases. Zhonghua Xue Ye Xue Za Zhi. 2008; 29:145–148. PMID: 18788609.

5. Thalji N, Camire RM. Parahemophilia: new insights into factor v deficiency. Semin Thromb Hemost. 2013; 39:607–612. PMID: 23893775.

6. Korea Hemophilia Foundation. 2013 Annual Report of Korea Hemophilia Foundation. Updated on April 25, 2014. http://www.kohem.org/_data/board_list_file/8/2014/1408121450071.pdf.

7. Song JW, Um MR, Ahn HS, Hong CY. A case of congenital factor V deficiency. J Korean Med Sci. 1987; 2:179–182. PMID: 3268174.

8. Peyvandi F, Palla R, Menegatti M, Siboni SM, Halimeh S, Faeser B, et al. Coagulation factor activity and clinical bleeding severity in rare bleeding disorders: results from the European Network of Rare Bleeding Disorders. J Thromb Haemost. 2012; 10:615–621. PMID: 22321862.

9. James P, Salomon O, Mikovic D, Peyvandi F. Rare bleeding disorders-bleeding assessment tools, laboratory aspects and phenotype and therapy of FXI deficiency. Haemophilia. 2014; 20(Suppl 4):71–75. PMID: 24762279.

10. Duckers C, Simioni P, Spiezia L, Radu C, Dabrilli P, Gavasso S, et al. Residual platelet factor V ensures thrombin generation in patients with severe congenital factor V deficiency and mild bleeding symptoms. Blood. 2010; 115:879–886. PMID: 19861681.