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A Case Presenting Massive Umbilical Hemorrhage with Previously Unrecognized Factor XIII Subunit A Mutation (Factor XIII A1 gene; NM_000129.3 c.1817_1817delA (p.H606Pfs*23) (p.His606Profs*23, homozygous)

Cilt: 14 Sayı: 2 15 Temmuz 2019
Hüsnü Maraşlı , Can Acıpayam *, Aydın Bozkaya , Defne Ay Tuncel , Seda Çakmaklı , Mustafa Çobanuşağı , Sadık Yurttutan
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A Case Presenting Massive Umbilical Hemorrhage with Previously Unrecognized Factor XIII Subunit A Mutation (Factor XIII A1 gene; NM_000129.3 c.1817_1817delA (p.H606Pfs*23) (p.His606Profs*23, homozygous)

Öz

ABSTRACT

Congenital factor XIII deficiency is an autosomal recessive inheritance bleeding disorder. Usually, the cause of this disease is  deficiency of factor XIII subunit A protein in  plasma. Some symptoms of the disease support that the clinical suspicions related to FXIII deficiency. For example; prolonged umbilical cord bleeding which is started in the newborn period. Diagnose of Factor XIII deficiency is difficult, on the other hand it has important therapeutic implications. When cryoprecipitate or plasma-derived factor XIII concentrate is used prophylactically, the prognosis of the disease will be good. We report here a case related to factor XIII deficiency with presented a massive umbilical cord bleeding as the first manifestation of factor XIII deficiency. The patient was managed successfully with cryoprecipitate, fresh frozen plasma transfusion and supportive treatments. 

Anahtar Kelimeler

Factor XIII Deficiency,umbilical cord bleeding,children

Kaynakça

  1. 1. Killick CJ, Barton CJ, Aslam S, Standen G. Prenatal diagnosis in factor XIII-A deficiency. Arch Dis Child Fetal Neonatal Ed 1999;80: F238-9.
  2. 2. Von der Weid N, Furlan M, Siegenthaler I, Lämmle B. An infant with umbilical cord and intracranial hemorrhage--severe factor XIII deficiency. Ther Umsch 1999; 56: 544-6.
  3. 3. Odame JE, Chan AK, Wu JK, Breakey VR. Factor XIII deficiency management: a review of the literature. Blood Coagul Fibrinolysis 2014;25:199-205.
  4. 4. Sawlani KK, Chaudhary SC, Roy A, Tripathi AK. Factor XIII Deficiency Presenting With Intracerebral Bleed. BMJ Case Rep 2013;2013.
  5. 5. Hsieh L, Nugent D. Factor XIII Deficiency. Haemophilia 2008;14: 1190-200.
  6. 6. Öcek Ö, Bilgin RR, Bilgir O, Gedizlioğlu M. Recurrent Spontaneous Intracerebral Haemorrhage Due To Factor XIII Deficiency. Turkish Journal Of Cerebrovascular Diseases 2014; 20: 24-27.
  7. 7. Cushing MM, Fitzgerald MM, Harris RM, Asmis LM, Haas T. Influence of cryoprecipitate, Factor XIII, and fibrinogen concentrate on hyperfibrinolysis. Transfusion 2017;57: 2502-2510.
  8. 8. Karimi M, Peyvandi F, Naderi M, Shapiro A. Factor XIII deficiency diagnosis: Challenges and tools. Int J Lab Hematol 2018;40: 3-11.

Ayrıntılar

Birincil Dil

İngilizce

Konular

Sağlık Kurumları Yönetimi

Bölüm

Olgu Sunumu

Yazarlar

Hüsnü Maraşlı Bu kişi benim

Aydın Bozkaya Bu kişi benim

Seda Çakmaklı Bu kişi benim

Mustafa Çobanuşağı Bu kişi benim

Yayımlanma Tarihi

15 Temmuz 2019

Gönderilme Tarihi

5 Ekim 2018

Kabul Tarihi

26 Kasım 2018

Yayımlandığı Sayı

Yıl 2019 Cilt: 14 Sayı: 2

DOI

https://doi.org/10.17517/ksutfd.467713

IZ

https://izlik.org/JA84ED59SC

Kaynak Göster

RIS / Bibtex
APA
Maraşlı, H., Acıpayam, C., Bozkaya, A., Tuncel, D. A., Çakmaklı, S., Çobanuşağı, M., & Yurttutan, S. (2019). A Case Presenting Massive Umbilical Hemorrhage with Previously Unrecognized Factor XIII Subunit A Mutation (Factor XIII A1 gene; NM_000129.3 c.1817_1817delA (p.H606Pfs*23) (p.His606Profs*23, homozygous). Kahramanmaraş Sütçü İmam Üniversitesi Tıp Fakültesi Dergisi, 14(2), 89-91. https://doi.org/10.17517/ksutfd.467713
AMA
1.Maraşlı H, Acıpayam C, Bozkaya A, vd. A Case Presenting Massive Umbilical Hemorrhage with Previously Unrecognized Factor XIII Subunit A Mutation (Factor XIII A1 gene; NM_000129.3 c.1817_1817delA (p.H606Pfs*23) (p.His606Profs*23, homozygous). KSÜ Tıp Fak Der. 2019;14(2):89-91. doi:10.17517/ksutfd.467713
Chicago
Maraşlı, Hüsnü, Can Acıpayam, Aydın Bozkaya, vd. 2019. “A Case Presenting Massive Umbilical Hemorrhage with Previously Unrecognized Factor XIII Subunit A Mutation (Factor XIII A1 gene; NM_000129.3 c.1817_1817delA (p.H606Pfs*23) (p.His606Profs*23, homozygous)”. Kahramanmaraş Sütçü İmam Üniversitesi Tıp Fakültesi Dergisi 14 (2): 89-91. https://doi.org/10.17517/ksutfd.467713.
EndNote
Maraşlı H, Acıpayam C, Bozkaya A, Tuncel DA, Çakmaklı S, Çobanuşağı M, Yurttutan S (01 Temmuz 2019) A Case Presenting Massive Umbilical Hemorrhage with Previously Unrecognized Factor XIII Subunit A Mutation (Factor XIII A1 gene; NM_000129.3 c.1817_1817delA (p.H606Pfs*23) (p.His606Profs*23, homozygous). Kahramanmaraş Sütçü İmam Üniversitesi Tıp Fakültesi Dergisi 14 2 89–91.
IEEE
[1]H. Maraşlı vd., “A Case Presenting Massive Umbilical Hemorrhage with Previously Unrecognized Factor XIII Subunit A Mutation (Factor XIII A1 gene; NM_000129.3 c.1817_1817delA (p.H606Pfs*23) (p.His606Profs*23, homozygous)”, KSÜ Tıp Fak Der, c. 14, sy 2, ss. 89–91, Tem. 2019, doi: 10.17517/ksutfd.467713.
ISNAD
Maraşlı, Hüsnü - Acıpayam, Can - Bozkaya, Aydın - Tuncel, Defne Ay - Çakmaklı, Seda - Çobanuşağı, Mustafa - Yurttutan, Sadık. “A Case Presenting Massive Umbilical Hemorrhage with Previously Unrecognized Factor XIII Subunit A Mutation (Factor XIII A1 gene; NM_000129.3 c.1817_1817delA (p.H606Pfs*23) (p.His606Profs*23, homozygous)”. Kahramanmaraş Sütçü İmam Üniversitesi Tıp Fakültesi Dergisi 14/2 (01 Temmuz 2019): 89-91. https://doi.org/10.17517/ksutfd.467713.
JAMA
1.Maraşlı H, Acıpayam C, Bozkaya A, Tuncel DA, Çakmaklı S, Çobanuşağı M, Yurttutan S. A Case Presenting Massive Umbilical Hemorrhage with Previously Unrecognized Factor XIII Subunit A Mutation (Factor XIII A1 gene; NM_000129.3 c.1817_1817delA (p.H606Pfs*23) (p.His606Profs*23, homozygous). KSÜ Tıp Fak Der. 2019;14:89–91.
MLA
Maraşlı, Hüsnü, vd. “A Case Presenting Massive Umbilical Hemorrhage with Previously Unrecognized Factor XIII Subunit A Mutation (Factor XIII A1 gene; NM_000129.3 c.1817_1817delA (p.H606Pfs*23) (p.His606Profs*23, homozygous)”. Kahramanmaraş Sütçü İmam Üniversitesi Tıp Fakültesi Dergisi, c. 14, sy 2, Temmuz 2019, ss. 89-91, doi:10.17517/ksutfd.467713.
Vancouver
1.Hüsnü Maraşlı, Can Acıpayam, Aydın Bozkaya, Defne Ay Tuncel, Seda Çakmaklı, Mustafa Çobanuşağı, Sadık Yurttutan. A Case Presenting Massive Umbilical Hemorrhage with Previously Unrecognized Factor XIII Subunit A Mutation (Factor XIII A1 gene; NM_000129.3 c.1817_1817delA (p.H606Pfs*23) (p.His606Profs*23, homozygous). KSÜ Tıp Fak Der. 01 Temmuz 2019;14(2):89-91. doi:10.17517/ksutfd.467713