OBJECTIVE: Alpha thalassemia major (ATM) is often fatal in utero due to severe hydrops fetalis. Although in utero transfusions (IUTs) are increasingly used to allow fetal survival in ATM, prenatal and postnatal outcomes are not well described. METHODS: We retrospectively reviewed cases of ATM at our institution treated with consecutive IUT. Clinical records were reviewed for transfusion history, neurodevelopmental outcomes, anatomic abnormalities, survival to hematopoietic cell transplantation, and transfusion independence. A systematic review was performed, and additional reported cases are discussed. RESULTS: Three patients who underwent IUT for ATM were identified, and review of the literature revealed 17 reported cases. Of patients who received IUT, reported neurodevelopmental deficits occurred in 29% (4/14) and anatomic abnormalities in 55% (11/20). Four patients eventually underwent successful hematopoietic cell transplantation. Transfusion volumes were less than suggested guidelines for other causes of fetal anemia in 91.7% of the transfusions. CONCLUSION: This series demonstrates the potential for achieving full fetal development with normal neurologic outcomes in those affected by ATM. It provides support for continued patient and provider education about current benefits and risks of active prenatal therapy for fetuses with ATM, as well as continued research to optimize therapeutic strategies such as in utero transplantation.
OBJECTIVE: Alpha thalassemia major (ATM) is often fatal in utero due to severe hydrops fetalis. Although in utero transfusions (IUTs) are increasingly used to allow fetal survival in ATM, prenatal and postnatal outcomes are not well described. METHODS: We retrospectively reviewed cases of ATM at our institution treated with consecutive IUT. Clinical records were reviewed for transfusion history, neurodevelopmental outcomes, anatomic abnormalities, survival to hematopoietic cell transplantation, and transfusion independence. A systematic review was performed, and additional reported cases are discussed. RESULTS: Three patients who underwent IUT for ATM were identified, and review of the literature revealed 17 reported cases. Of patients who received IUT, reported neurodevelopmental deficits occurred in 29% (4/14) and anatomic abnormalities in 55% (11/20). Four patients eventually underwent successful hematopoietic cell transplantation. Transfusion volumes were less than suggested guidelines for other causes of fetal anemia in 91.7% of the transfusions. CONCLUSION: This series demonstrates the potential for achieving full fetal development with normal neurologic outcomes in those affected by ATM. It provides support for continued patient and provider education about current benefits and risks of active prenatal therapy for fetuses with ATM, as well as continued research to optimize therapeutic strategies such as in utero transplantation.
Authors: Rachel S Riley; Meghana V Kashyap; Margaret M Billingsley; Brandon White; Mohamad-Gabriel Alameh; Sourav K Bose; Philip W Zoltick; Hiaying Li; Rui Zhang; Andrew Y Cheng; Drew Weissman; William H Peranteau; Michael J Mitchell Journal: Sci Adv Date: 2021-01-13 Impact factor: 14.957
Authors: Alba Saenz de Villaverde Cortabarria; Laura Makhoul; John Strouboulis; Giovanna Lombardi; Eugene Oteng-Ntim; Panicos Shangaris Journal: Front Cell Dev Biol Date: 2021-01-22
Authors: Tippi C MacKenzie; Ali Amid; Michael Angastiniotis; Craig Butler; Sandra Gilbert; Juan Gonzalez; Roberta L Keller; Sandhya Kharbanda; Melanie Kirby-Allen; Barbara A Koenig; Wade Kyono; Ashutosh Lal; Billie R Lianoglou; Mary E Norton; Keith K Ogasawara; Tachjaree Panchalee; Mara Rosner; Marisa Schwab; Alexis Thompson; John S Waye; Elliott Vichinsky Journal: Blood Adv Date: 2021-12-28
Authors: Niraja M Dighe; Kang Wei Tan; Lay Geok Tan; Steven S W Shaw; Suzanne M K Buckley; Dedy Sandikin; Nuryanti Johana; Yi-Wan Tan; Arijit Biswas; Mahesh Choolani; Simon N Waddington; Michael N Antoniou; Jerry K Y Chan; Citra N Z Mattar Journal: Exp Hematol Date: 2018-03-29 Impact factor: 3.084