Hemophilia

Introduction:Classic Hemophilia (Hemophilia A) is an X-linked hereditary bleeding disorder affecting half of the male offspring of female carriers.The gene for factor VIII is located on the long arm of the chromosome. Hemophilia often occurs in patients who have family history. However, about 25% to 30% of cases of hemophilia result from new mutations and have no relevant family history.Female carriers who possess one hemophilic allele mostly do not manifest clinical signs and symptoms.Case report: The patient is 27-year-old female multigravida with history of two previous abortions, presented in her 3rd labour at the 39th week of pregnancy referring to hospital complaining of going into labour. She admitted history of asthma and use of salbutamol. There were evidences of deliberate self-harming in both hands. Vital signs and fetal heart rate showed nothing abnormal.In other screening laboratory assays, prolonged PTT (=146) was discovered coincidentally and subsequently ordered to administrate volume infusion of FFP before delivery and afterwards to recheck PTT.She had also admitted the history of prolonged wound remission, ecchymosis and hematemesis subsequent to repetitive vomiting.In the meantime, mixing test was executed by hematologist and exhibited no abnormality in intrinsic pathway of coagulation except deficiency of factor VIII.Duo to figure out the main kind of hemophilia (acquired, familial, de novo mutation) family history and laboratory assay were performed and exhibited no abnormality in coagulation state of the family (father, mother, sister) but little bruise once while in her sister which can’t be related to hemophilia alone. The most probable diagnosis is de novo mutation.Conclusion:Mutational hemophilia counts 25%-30% of whole classic hemophilia presented with no family history. Further studies are needed to determine the susceptibility of pregnant women for occurring de novo mutation in whom, leading to hemophilia.

کلیدواژه ها:

Hemophilia ، pregnancy ، prenatal diagnosis ، coagulation factor.