Tippi C MacKenzie, Marisa E Schwab, Billie R Lianoglou, Dawn Gano, Juan Gonzalez, Regina L Arvon, Ahmet Alexander Baschat, Diana W Bianchi, Melissa Bitanga, Ann Bourguignon, Richard N Brown, Bruce Chen, May Chien, Shareece Davis-Nelson, Monique W M de Laat, Supachai Ekwattanakit, Yvonne Gollin, Greigh Hirata, Angie Jelin, Jennifer Jolley, Paul Meyer, Jena Miller, Mary E Norton, Keith K Ogasawara, Tachjaree Panchalee, Erica Schindewolf, Steven W Shaw, Tammy Lynn Stumbaugh, Alexis A Thompson, Dena Towner, Pai-Jong Stacy Tsai, Vip Viprakasit, Emmanuel Volanakis, Elliott Vichinsky, Isabel Elaine Allen, Li Zhang
Alpha thalassemia major (ATM) is a hemoglobinopathy that usually results in perinatal demise if in utero transfusions (IUTs) are not performed. We established an international registry (NCT04872179) to evaluate the impact of IUTs on survival to discharge (primary outcome) as well as perinatal and neurodevelopmental secondary outcomes. Forty-nine patients were diagnosed prenatally and 11 were diagnosed postnatally: all 11 spontaneous survivors' genotypes had preserved embryonic zeta globin. We compared three groups of patients; Group 1 were prenatally diagnosed and alive at hospital discharge (n=14), Group 2 were prenatally diagnosed and deceased perinatally (n=5), Group 3 were postnatally diagnosed and alive at hospital discharge (n=11)...
October 28, 2022: Blood Advances