Author Information
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
Abstract
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.
Introduction
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. [1]
Case
Report
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.
Discussion
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%.[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.[1]
Preconceptional counseling plays an important role to educate patients about
the high risk pregnancy.
Conclusion
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.
References
- “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.
Citation
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