Shukla H*, Dudhe M**, Channawar S***,
****. Chauhan AR
(* Second Year Resident, ** Third Year Resident, *** Assistant Professor, **** Additional Professor, Department of Obstetrics and Gynecology, Seth GS
Medical College & KEM Hospital,
) Mumbai, India
Hemophilia B also called Factor IX deficiency or Christmas disease, is a genetic disorder caused by the missing or defective clotting protein, Factor IX. We present a case of Hemophilia B who underwent second trimester medical termination of pregnancy (MTP). The focus of the discussion is management of an obstetric case with bleeding disorder.
Hemophilia is an X-linked recessive disorder. Males are predominantly affected because of the presence of single X chromosome. Women are usually asymptomatic carriers because of the presence of the other normal X chromosome. Incidence of hemophilia B is 1 in 30,000 live births. 
Our patient a 29 year old primigravida with 19 weeks’ gestation, known case of Hemophilia B was admitted for medical termination of pregnancy in view of ultrasonography (USG) suggestive of fetal congenital malformations (bilateral renal agenesis, hydrops fetalis, Ebstein’s anomaly) with anhydramnios. Patient was asymptomatic with no complaint of bleeding during this pregnancy. General examination findings were normal. On abdominal examination, uterus was 18 to 20 weeks’ size. Her baseline routine investigations and coagulation profile were within normal limits.
Patient had been diagnosed with hemophilia B at 13 years of age when she presented with puberty menorrhagia; she received blood transfusion at that time. She also had a tendency of easy bruising. There was a family history of haemophilia in maternal uncle.
After a valid well informed consent, decision of second trimester medical termination of pregnancy was taken in view of substantial risk that if the child were born, it would suffer from such physical or mental abnormalities to be seriously handicapped. Pregnancy was terminated using tablet Misoprostol per vaginally 400 µg repeated four hourly for 5 doses (total dose of 2000 µg).
The case was jointly managed with hematologist; their opinion was sought for measures to control excessive blood loss during MTP. Accordingly, they advised Factor IX 3600 IU intravenously loading dose prior to the initiation of MTP, followed by 1800 IU twice daily during the procedure, which was given. The abortion was complete; there was only mild bleeding immediately post abortion which was managed successfully with oxytocin infusion, with cover of factor IX throughout the process of abortion. She received another dose of 4800 IU of Factor IX after abortion on day 2. As advised by hematologist, recombinant Factor VIIa was kept in reserve for excessive bleed loss in spite of Factor IX therapy; however the patient did not require the same.
The patient was asymptomatic after the procedure with no further bleeding episode. She was discharged on day 3 of procedure, and was advised to follow up.
Hemophilia is inherited in an X-linked recessive manner. It is of two types, hemophilia A which occurs due to deficiency of factor VIII, and hemophilia B which occurs due to deficiency of factor IX. Hemophilia B is of three types, mild, moderate and severe, according to the severity and presence of level of factor IX. Mild - level of 6 to 30%, moderate - 1 to 5% and severe - < 1%. Hemophilia presents as spontaneous haemorrhages, hemarthrosis, unexpected bruising and bleeding from trivial trauma, menorrhagia, post- menopausal bleeding, dysmenorrhea, excessive bleeding following minor procedure such as dilatation and curettage, tooth extraction, circumcision, following vaginal delivery and vacuum or forceps deliveries. All bleeding disorders including hemophilia increase the risk of postpartum hemorrhage. Prolonged labour should be avoided; instrumental deliveries like vacuum extraction pose highest risk of intracranial bleeding hence should be avoided.[2,3,4] In cases of excessive bleeding or to prevent excess blood loss, transfusion with Factor IX is recommended.
Prenatal screening of hemophilia can be done by chorionic villous sampling at 11-13 weeks of gestation or by amniocentesis at 15-18 weeks of gestation.[1,5] These patients usually have low hemoglobin, normal partial thromboplastin time and increased activated thromboplastin time. Factor IX assay is done to determine the level of Factor IX in blood and to confirm the diagnosis. The definitive treatment of hemophilia B is to give concentrated factor IX; antifibrinolytics like tranexemic acid can be given as supportive treatment. Genetic tests such as mutation analysis can be done to look for the altered gene responsible for hemophilia, but it is costly and not available in all centres. Preconceptional counseling plays an important role to educate patients about the high risk pregnancy.
Pregnancy in women with inherited bleeding disorders should be managed with multidisciplinary approach with consideration for obstetric and bleeding risk factors. Women with bleeding disorders of moderate to severe types or rare bleeding disorders like hemophilia should be managed in a tertiary care centre.
- “Carriers and women with hemophilia”. 1st ed. Montreal: World Federation of Hemophilia, 2012; pp 3-6.
- Gekas J, Broermann L, Heidenreich W, Z Geburtshilfe. Outcome of pregnancy in patients with haemophilia B -two case reports. Neonatol. 2007Apr; 211(2):90-2.
- Yang MY, Ragni MV. Clinical manifestations and management of labor and delivery in women with factor IX deficiency. Haemophilia . 2004 Sep;10(5):483-90.
- Huq FY, Kadir RA. Management of pregnancy, labour and delivery in women with inherited bleeding disorders. Haemophilia. 2011 Jul;17 Suppl 1:20-30.
- Young JH, Wang JC, Gau JP, Hu HT. Prenatal and molecular diagnosis of hemophilia B. Am J Hematol.1996 Aug;52(4):243-7.
Shukla H, Dudhe M, Channawar S, Chauhan AR. Pregnancy Termination In Case Of Hemophilia B JPGO 2015. Volume 2 No. 3. Available from: http://www.jpgo.org/2015/03/pregnancy-termination-in-case-of.html