Prenatal diagnosis and management of homozygous hemoglobin constant spring disease

• Main Authors: Sirinart Sirilert, Pimlak Charoenkwan, Supatra Sirichotiyakul, Fuanglada Tongprasert, Kasemsri Srisupundit, Suchaya Luewan, Theera Tongsong
• Format: Journal
• Published: 2019
• Subjects: Medicine
• Online Access: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85066033777&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/65721
• Institution: Chiang Mai University

© 2019, Springer Nature America, Inc. Objective: To describe fetal management of homozygous hemoglobin constant spring (Hb CS). Methods: Six fetuses with homozygous Hb CS disease undergoing intrauterine transfusion (IUT) were comprehensively reviewed. Additionally, when combined with 8 cases previously reported, a total of 14 cases were analyzed. Results: The first clues of diagnosis were hydropic changes suggesting fetal anemia. Increased cardiothoracic diameter ratio (CTR) was the most sensitive sonographic marker but slowly changed after IUT, whereas MCA-PSV was the most sensitive in response to IUT. Pre-IUT Hb varied from 1.1% to 6.8%. Gestational age at diagnosis was 17–29 (22.8 ± 3.3) weeks. Rates of adverse obstetric outcomes were relatively high; preterm birth: 35.7%, low birthweight: 42.9%, and fetal growth restriction: 28.6%. All showed good response to IUT with disappearance of hydropic signs and all survived without short-term complications. Their anemia gradually improved in childhood and transfusion independent. Conclusion: Homozygous Hb CS can cause severe fetal anemia. Early diagnosis and IUT can improve neonatal outcomes, probably preventing adult diseases caused by fetal programming.