TY - JOUR
T1 - Bleeding symptoms in heterozygous carriers of inherited coagulation disorders in southern Iran
AU - Mahmoodi, Mojtaba
AU - Peyvandi, Flora
AU - Afrasiabi, Abdolreza
AU - Ghaffarpasand, Fariborz
AU - Karimi, Mehran
PY - 2011/7
Y1 - 2011/7
N2 - The objective of the present study was to investigate the prevalence of bleeding symptoms in individuals who are heterozygous for recessively inherited coagulation disorders (RICDs) and to determine the association of these bleeding symptoms with type of RICDs. This was a retrospective cross-sectional study being performed in Shiraz Hemophilia Society (Shiraz, Southern Iran). In this study, bleeding symptoms of the parents (heterozygous) of the patients (homozygous) who were registered and had definite diagnosis as autosomal recessive coagulation disorder were evaluated. These inherited disorders include factor I, V, VII, X, XI, XIII deficiency, combined factor VII and X deficiency, combined factor V and VIII deficiency, all platelet disorders and von Willebrand disease (VWD) type III. 50.3% individuals underwent genotype and mutation study to confirm their heterozygosity. We included 350 heterozygote individuals for inherited coagulation disorders among whom there were 175 (50%) men and 175 (50%) women. Those who were heterozygous for factor VII deficiency had significantly higher prevalence of subcutaneous hematoma (P = 0.011). In the same way heterozygous patients for Bernard-Soulier syndrome had higher prevalence of hypermenorrhea (P = 0.012) and obstetric (normal vaginal delivery or cesarean delivery) bleeding (P = 0.012). Heterozygosity for factor X and XIII deficiency was associated with prolonged or massive bleeding during operations (P = 0.001) and after minor traumas (P = 0.019), respectively. Heterozygosity for RICDs is associated with some bleeding symptoms. Thus bleeding tendency and homeostasis disturbance should be kept in mind in those who are heterozygous for RICDs and more preoperative care and correction of coagulation indices is highly recommended.
AB - The objective of the present study was to investigate the prevalence of bleeding symptoms in individuals who are heterozygous for recessively inherited coagulation disorders (RICDs) and to determine the association of these bleeding symptoms with type of RICDs. This was a retrospective cross-sectional study being performed in Shiraz Hemophilia Society (Shiraz, Southern Iran). In this study, bleeding symptoms of the parents (heterozygous) of the patients (homozygous) who were registered and had definite diagnosis as autosomal recessive coagulation disorder were evaluated. These inherited disorders include factor I, V, VII, X, XI, XIII deficiency, combined factor VII and X deficiency, combined factor V and VIII deficiency, all platelet disorders and von Willebrand disease (VWD) type III. 50.3% individuals underwent genotype and mutation study to confirm their heterozygosity. We included 350 heterozygote individuals for inherited coagulation disorders among whom there were 175 (50%) men and 175 (50%) women. Those who were heterozygous for factor VII deficiency had significantly higher prevalence of subcutaneous hematoma (P = 0.011). In the same way heterozygous patients for Bernard-Soulier syndrome had higher prevalence of hypermenorrhea (P = 0.012) and obstetric (normal vaginal delivery or cesarean delivery) bleeding (P = 0.012). Heterozygosity for factor X and XIII deficiency was associated with prolonged or massive bleeding during operations (P = 0.001) and after minor traumas (P = 0.019), respectively. Heterozygosity for RICDs is associated with some bleeding symptoms. Thus bleeding tendency and homeostasis disturbance should be kept in mind in those who are heterozygous for RICDs and more preoperative care and correction of coagulation indices is highly recommended.
KW - bleeding symptoms
KW - coagulation disorders
KW - heterozygous
KW - southern Iran
UR - http://www.scopus.com/inward/record.url?scp=79960698672&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=79960698672&partnerID=8YFLogxK
U2 - 10.1097/MBC.0b013e328345f566
DO - 10.1097/MBC.0b013e328345f566
M3 - Article
C2 - 21451397
AN - SCOPUS:79960698672
VL - 22
SP - 396
EP - 401
JO - Blood Coagulation and Fibrinolysis
JF - Blood Coagulation and Fibrinolysis
SN - 0957-5235
IS - 5
ER -