9 / 11
Page 33
Volume 1
Journal of Blood Disorders and Treatment
World Hematology 2018
October 22-23, 2018
October 22-23, 2018 Warsaw, Poland
10
th
World
Hematology and Oncology Congress
J Blood Disord Treat 2018, Volume 1
Congenital FXIII deficiency in Pakistan
Munira Borhany
1
, Naveena Fatima
1
, Madiha Abid
1
, Tahir Shamsi
1
, Verena Schroeder
2
and Hans P Kohler
3
1
National Institute of Blood Disease & BMT, Pakistan
2
University of Bern, Switzerland
3
Tiefenau Hospital, Switzerland
Introduction & Aim:
Factor XIII (FXIII) deficiency is a Rare Bleeding Disorder (RBD) with an incidence of about one in 1-2.5
million and its incidence is higher in populations with consanguineous marriages. The aim of this study was to characterize patients
and relatives from sixteen families with suspected FXIII deficiency from Pakistan and to identify the clinical characteristics and
underlying mutations.
Method:
FXIII deficient patients, enrolled at National Institute of Blood diseases and Bone Marrow Transplantation were included
in the study. The patients’ medical histories were recorded in a questionnaire. As a first indicator of FXIII deficiency, a 5M urea clot
solubility test was used. Plasma FXIII A- and B-subunit antigen levels were determined by ELISA. FXIII activity was measured with
an incorporation assay. Sequencing of all exons and intron/exon boundaries of F13A was performed.
Result:
We analyzed 16 families in which 32 (females 18 and 14 males) were severe FXIII deficient with FXIII level <1%. 19 first-degree
relatives with mean FXIII level 71.19±21.1 are asymptomatic. Each family had a history of consanguineous marriages except one. 50%
had significant family history of bleeding. Age at first presentation ranged from birth to 18 years. In these patients we identified 23
mutations which include 19 missense mutations, 2 splicing mutations and 2-nonsense mutations with 7 novel mutations. Bleeding
after injury (78%), umbilical cord bleeding (57%), intracranial bleed (43%), hematoma, bruises (39%), abortions and menorrhagia
(38%), circumcision (35%) were the main clinical manifestations. Fresh frozen plasma/cryoprecipitate were used in the management
of most patients and for prophylaxis in 8 patients with grade III bleeding.
Conclusion:
We have analyzed a cohort of 51 individuals from 16 families in which 32 were severe FXIII deficient (homozygous or
compound heterozygous) and remaining were FXIII deficient carriers (heterozygous). We identified 23 mutations in these families
leading to congenital FXIII deficiency. Diagnosis of FXIII deficiency should be made on time so that prophylaxis can be initiated
immediately to prevent fatal bleeding and for genetic counseling.
muniraborhany@gmail.com