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The use of Tranexamic Acid in a patient with heretofore undescribed genetic mutation causing pancytopenia in a parturient with placenta previa undergoing a cesarean section.
Abstract Number: T-63
Abstract Type: Case Report/Case Series
Erythroid Krüppel-like Factor(EKLF) is a transcription factor that is necessary for the proper maturation of erythroid cells. An E325 mutation in KLF1 has been reported to cause a severe Congenital Dyserythropoietic Anemia phenotype. Our patient is homozygous for a novel amino acid change in the KLF1 transcription factor. This change has not been reported in the literature, as the homozygous mutation was thought to be non-viable. EKLF deficient (knockout) mouse embryos exhibit a lethal anemic phenotype; fail to promote the transcription of adult β globin and die by embryonic day 14.
Case:A 42-year-old G2P0 with GDM and placenta previa, was noted to have severe anemia and thrombocytopenia on routine CBC at 13 weeks. Further history revealed a previous first trimester loss, but no other significant bleeding history. During the pregnancy, the patient reached a nadir of 4 thousand platelets and Hemoglobin of 16. The patient was transfused 2 units of blood biweekly, beginning at 13 weeks and received a pool of platelets whenever her platelets fell below 15 thousand. She was scheduled for elective C-section at 36 weeks and 6 days. The patient was transfused 4 units PRBC and 2 pools of platelets over a period of 2 days prior to surgery to a HCT of 28 and platelet of 100k. The morning of the procedure the HCT had remained stable, but the platelet had dropped to 60k. The patient was put under general anesthesia uneventfully and additional peripheral lines and an arterial line were placed. Platelets were hung shortly after initial incision and with increased bleeding and atony after delivery of the baby and placenta, 4 units of PRBC’s were administered along with Pitocin, methergine, hemabate and misoprostol. With continued bleeding and oozing from incisions, FFP and one gram of Tranexamic Acid was given. Hemostasis was obtained shortly thereafter and the procedure concluded without further intervention.
Antifibrinolytic therapy has been widely used in surgery and especially trauma in order to reduce surgical blood loss. Critically to our pro-thrombotic population, there was no evidence of an increased risk of thrombotic events. Pending the results of the WOMAN Trial, there is no good prospective evidence that recommends TXA for Post Partum Hemorrhage (PPH). Retrospective analysis has detailed the efficacy of TXA in treatment of PPH without an increase in risk of thrombotic event.In our case, given what is known about KLF mutations and its association with the phenotypic presentation of a CDA-like pancytopenia, in conjunction with intractable hemorrhage, we relied on case reports successfully detailing use of TXA in patients with CDA and the multiple positive reports found in PPH literature to justify the use of TXA in this scenario
Hodge D, Coghill E, Keys J, Maguire T, Hartmann B, McDowall A, Weiss M, Grimmond S, Perkins A. A global role for EKLF in definitive and primitive erythropoesis. Blood. 2006 15 April2006;107(8):3359-70.