Perinatal Management of Bart's Hemoglobinopathy: Paradoxical Effects of Intrauterine, Transplacental, and Partial Exchange Transfusions

Abstract

We describe a fetus at 24 ^3/7 weeks' gestation that showed ultrasound evidence of anemia, hydrops, and severe growth restriction. Both parents were known to be cis heterozygous carriers for SEA α-thalassemia deletion (αα/–). Cordocentesis confirmed fetal anemia and homozygous α-thalassemia (−/−) in the fetus. Fetal intrauterine transfusions corrected the anemia, treated the hydrops, and improved fetal growth. The postnatal course was complicated by hypoxic respiratory failure and persistent pulmonary hypertension of the newborn, which resolved only after partial volume exchange transfusion. This case report is presented to point out the potential unintended outcomes with transplacental transfusion via delayed cord clamping and cord milking at delivery in the setting of congenital Bart's hemoglobinopathy, and demonstrates that partial exchange transfusion of the newborn may optimize oxygen delivery due to the more favorable oxygen affinity of transfused adult hemoglobin compared with the Bart's hemoglobin.

Keywords

hemoglobin Bart - fetal transfusion - partial exchange transfusion

Statement of Ethics

Parents have given written informed consent to publish this case report regarding their child.

Contributors

All authors have made substantial contributions to the conception and design of the manuscript, as well as the writing and approval of the final version of the manuscript.

• References

• 1 Vichinsky EP. Alpha thalassemia major--new mutations, intrauterine management, and outcomes. Hematology Am Soc Hematol Educ Program 2009; 35-41 . Doi: 10.1182/asheducation-2009.1.35
• 2 Chmait RH, Baskin JL, Carson S, Randolph LM, Hamilton A. Treatment of alpha(0)-thalassemia (--(SEA)/--(SEA)) via serial fetal and post-natal transfusions: can early fetal intervention improve outcomes?. Hematology 2015; 20 (04) 217-222
• 3 Committee on Obstetric Practice. Committee opinion no. 684: delayed umbilical cord clamping after birth. Obstet Gynecol 2017; 129 (01) e5-e10
• 4 Garabedian C, Rakza T, Drumez E. , et al. Benefits of delayed cord clamping in red blood cell alloimmunization. Pediatrics 2016; 137 (03) e20153236
• 5 Vali P, Lakshminrusimha S. The fetus can teach us: oxygen and the pulmonary vasculature. Children (Basel) 2017; 4 (08) E67
• 6 Maršál K. Physiological adaptation of the growth-restricted fetus. Best Pract Res Clin Obstet Gynaecol 2018; 49: 37-52
• 7 Songdej D, Babbs C, Higgs DR. ; BHFS International Consortium. An international registry of survivors with Hb Bart's hydrops fetalis syndrome. Blood 2017; 129 (10) 1251-1259