Volume 10, Issue 3 (Autumn 2013)
Sci J Iran Blood Transfus Organ 2013, 10(3): 282-288 |
Back to browse issues page
Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
Naderi M, Imani M, Eshghi P, Dorgalaleh A, Tabibian S, Alizadeh S, et al . Factor XIII deficiency in Sistan and Baluchistan province. Sci J Iran Blood Transfus Organ 2013; 10 (3) :282-288
URL: http://bloodjournal.ir/article-1-797-en.html
URL: http://bloodjournal.ir/article-1-797-en.html
M. Naderi * 
, M. Imani , P. Eshghi , A, Dorgalaleh , Sh. Tabibian , Sh. Alizadeh , E. Sanei Moghaddam , E. Miri-Moghaddam
, M. Imani , P. Eshghi , A, Dorgalaleh , Sh. Tabibian , Sh. Alizadeh , E. Sanei Moghaddam , E. Miri-Moghaddam
Full-Text [PDF 294 kb]
(2768 Downloads)
| Abstract (HTML) (14009 Views)
Factor XIII deficiency in Sistan and Baluchistan province
Naderi M.1, Imani M.1, Eshghi P.2, Dorgalaleh A.3, Tabibian Sh.3, Alizadeh Sh.3,
Sanei Moghaddam E.4,5, Mirimoghaddam E.6
1Children and adolescents Health Research Center, Zahedan University of Medical Sciences, Zahedan, Iran
2Pediatric Congenital Hematologic Disorders Research Center, Shahid Beheshti University of Medical Sciences,Tehran, Iran
3Hematology Department, Allied Medical School, Tehran University of Medical Sciences, Tehran, Iran
4Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran,Iran
5Zahedan Regional Educational Blood Transfusion Center, Zahedan, Iran
6Genetics of Non-Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran
Abstract
Background and Objectives
Factor XIII deficiency is one of the rarest bleeding disorders with an estimated prevalence of 1 in 1-3 million in the general population. The main clinical manifestations of the disease are delayed wound bleeding, recurrent miscarriage, intracranial bleeding, and umbilical cord bleeding. The prevalence of the disease in the regions such as Sistan and Baluchistan with consanguinity marriages is higher. The aim of this study was to assess the diagnosis and treatment of factor XIII deficiency in Sistan and Baluchistan province.
Materials and Methods
This descriptive study was performed on 205 patients with the severe factor XIII deficiency. The diagnosis of the disease was done by a wide spectrum of characteristics including family history, clinical manifestations, laboratory tests, clot solubility in 5 M urea or monochloroacetic acid 1% environments.
Results
It seems that Khash city has the highest prevalence of the disease worldwide. The molecular analysis of the patients showed that an identical homozygote mutation TGG —› CGG at codon 187 in exon 4 of catalytic A subunit is responsible of this deficiency. The common manifestations of the disease at time of diagnosis were umbilical bleeding (84.4%), deep soft tissue haematoma (54.4%), and less frequently gum bleeding and finally ecchymosis.
Conclusions
It seems that Sistan and Baluchistan province has the highest prevalence of factor XIII deficiency worldwide with a dramatic increase of 46 cases in 2008 to 205 patients in 2012 that alarmed the absence of a screening test in this region.
Key words: Factor XIII Deficiency, Blood Coagulation Disorders, Bleeding
Received: 19 Sep 2012
Accepted:11 Dec 2012
Correspondence: Naderi M., MD. Pediatrics Hematologist-Oncologist. Children and adolescents Health Research Center, Zahedan University of Medical Sciences.
P.O.Box: 13211, Zahedan, Iran. Tel: (+98541) 3229688; Fax: (+98541) 3338998
E-mail: majid_naderi2000@yahoo.com
Full-Text: (8827 Views)
References:
- Muszbek L, Yee VC, Hevessy Z. Blood coagulation factor XIII: structure and function. Thromb Res 1999; 94(5): 271-305.
- Eshghi P, Cohan N, Naderi M, Karimi M. Factor XIII deficiency: a review of literature. IJBC 2012; 4(2): 85-91.
- Hsieh L, Nugent D. Factor XIII deficiency. Haemophilia 2008; 14(6): 1190-200.
- Al-Sharif FZ, Aljurf MD, Al-Momen AM, Ajlan AM, Musa MO, Al-Nounou RM, et al. Clinical and laboratory features of congenital factor XIII deficiency. Saudi Med J 2002; 23(5): 552-4.
- Eshghi P, Abolghasemi H, Sanei-Moghaddam E, Anwar R, Jazebi M, Amid A, et al. Factor XIII deficiency in south-east Iran. Haemophilia 2004; 10(5): 470-2.
- Tamaddon Gh, Kazemi A, Rastegar G, Alla F, Hejazi S. Molecular Basis of Inherited Factor XIII-A Deficiency among Patients from Sistan-Baluchestan. Zahedan Journal of Research in Medical Sciences 2010; 11(4): 19-24. [Article in Farsi]
- Trinh CH, Sh Elsayed W, Eshghi P, Miri-Moghaddam E, Zadeh-Vakili A, Markham AF, et al. Molecular analysis of sixteen unrelated factor XIIIA deficient families from south-east of Iran. Br J Haematol 2008; 140(5): 581-4.
- Naderi M, Eshghi P, Cohan N, Miri-Moghaddam E, Yaghmaee M, Karimi M. Successful delivery in patients with FXIII deficiency receiving prophylaxis: report of 17 cases in Iran. Haemophilia 2012; 18(5): 773-6.
|
Original Article
|
|
Sci J Iran Blood Transfus Organ 2013; 10(3): 282-288 |
Factor XIII deficiency in Sistan and Baluchistan province
Naderi M.1, Imani M.1, Eshghi P.2, Dorgalaleh A.3, Tabibian Sh.3, Alizadeh Sh.3,
Sanei Moghaddam E.4,5, Mirimoghaddam E.6
1Children and adolescents Health Research Center, Zahedan University of Medical Sciences, Zahedan, Iran
2Pediatric Congenital Hematologic Disorders Research Center, Shahid Beheshti University of Medical Sciences,Tehran, Iran
3Hematology Department, Allied Medical School, Tehran University of Medical Sciences, Tehran, Iran
4Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran,Iran
5Zahedan Regional Educational Blood Transfusion Center, Zahedan, Iran
6Genetics of Non-Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran
Abstract
Background and Objectives
Factor XIII deficiency is one of the rarest bleeding disorders with an estimated prevalence of 1 in 1-3 million in the general population. The main clinical manifestations of the disease are delayed wound bleeding, recurrent miscarriage, intracranial bleeding, and umbilical cord bleeding. The prevalence of the disease in the regions such as Sistan and Baluchistan with consanguinity marriages is higher. The aim of this study was to assess the diagnosis and treatment of factor XIII deficiency in Sistan and Baluchistan province.
Materials and Methods
This descriptive study was performed on 205 patients with the severe factor XIII deficiency. The diagnosis of the disease was done by a wide spectrum of characteristics including family history, clinical manifestations, laboratory tests, clot solubility in 5 M urea or monochloroacetic acid 1% environments.
Results
It seems that Khash city has the highest prevalence of the disease worldwide. The molecular analysis of the patients showed that an identical homozygote mutation TGG —› CGG at codon 187 in exon 4 of catalytic A subunit is responsible of this deficiency. The common manifestations of the disease at time of diagnosis were umbilical bleeding (84.4%), deep soft tissue haematoma (54.4%), and less frequently gum bleeding and finally ecchymosis.
Conclusions
It seems that Sistan and Baluchistan province has the highest prevalence of factor XIII deficiency worldwide with a dramatic increase of 46 cases in 2008 to 205 patients in 2012 that alarmed the absence of a screening test in this region.
Key words: Factor XIII Deficiency, Blood Coagulation Disorders, Bleeding
Received: 19 Sep 2012
Accepted:11 Dec 2012
Correspondence: Naderi M., MD. Pediatrics Hematologist-Oncologist. Children and adolescents Health Research Center, Zahedan University of Medical Sciences.
P.O.Box: 13211, Zahedan, Iran. Tel: (+98541) 3229688; Fax: (+98541) 3338998
E-mail: majid_naderi2000@yahoo.com
Send email to the article author
| Rights and permissions | |
 |
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
