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

AJP Rep

Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Keck School of Medicine, University of Southern California, Los Angeles, California.

Published: January 2020

We describe a fetus at 24 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.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6984954PMC
http://dx.doi.org/10.1055/s-0039-3401799DOI Listing

Publication Analysis

Top Keywords

bart's hemoglobinopathy
8
partial exchange
8
exchange transfusion
8
perinatal management
4
management bart's
4
hemoglobinopathy paradoxical
4
paradoxical effects
4
effects intrauterine
4
intrauterine transplacental
4
transplacental partial
4

Similar Publications

Hemoglobin Bart's hydrops fetalis is the most severe form of α-thalassemia, caused by homozygous α-thalassemia, which is highly prevalent in Southeast Asian countries. Simple and rapid identification of α-thalassemia carrier and prenatal diagnosis of Hemoglobin Bart's hydrops is essential in the region. We have developed a multiplex RPA assay for simple detection of α-thalassemia (SEA and THAI deletions) and tested it in carrier detection ( = 125) and prenatal diagnosis of Hb Bart's hydrops fetalis syndrome ( = 30).

View Article and Find Full Text PDF

Objectives: This study reported a large cohort of fetal blood analysis of various hemoglobinopathies.

Methods: A total of 371 fetal blood specimens were recruited. Complete blood count and hemoglobin (Hb) analysis using capillary electrophoresis were performed.

View Article and Find Full Text PDF

Haemoglobin (Hb) AE Bart's disease is a rare form of thalassemia that results from the co-inheritance of Hb E and alpha thalassemia, typically with Hb H disease. The clinical severity can vary depending on the underlying genetic mutations, particularly in the presence of Hb Constant Spring (Hb CS), which is a highly unstable form of alpha thalassemia. Understanding the genetic basis and haematological profiles of Hb AE Bart's disease is crucial for proper diagnosis and management.

View Article and Find Full Text PDF

Objective: To analyze the correlation between variants in the start codon of the α-globin gene and phenotypes of thalassemia, so as to provide a basis for the diagnosis and prevention of α-thalassemia.

Methods: A retrospective study was conducted on 7 patients diagnosed by Yangjiang People's Hospital and Guangzhou Hybribio Co. Ltd.

View Article and Find Full Text PDF

Newborn Screening for Six Primary Conditions in a Clinical Setting in Morocco.

Int J Neonatal Screen

December 2024

Laboratory of Genomic, Epigenetics, Precision and Predictive Medicine, School of Medicine, Mohammed VI University of Sciences and Health, Casablanca 82403, Morocco.

Unlabelled: Newborn screening (NBS) represents an important public health measure for the early detection of specified disorders; such screening can prevent disability and death, not only from metabolic disorders but also from endocrine, hematologic, immune, and cardiac disorders. Screening for critical congenital conditions affecting newborns' health is a great challenge, especially in developing countries such as Morocco, where NBS program infrastructure is lacking. In addition, the consanguinity rate is high in Morocco.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!