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.
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http://dx.doi.org/10.1055/s-0039-3401799 | DOI Listing |
Scand J Clin Lab Invest
February 2025
Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.
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 PDFDiagnosis (Berl)
January 2025
Faculty of Associated Medical Sciences, Centre for Research and Development of Medical Diagnostic Laboratories, Khon Kaen University, Khon Kaen, Thailand.
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.
Cureus
December 2024
Department of Haematology, School of Medical Sciences, Universiti Sains Malaysia, Kota Bharu, MYS.
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 PDFZhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Precision Medical Lab Center, People's Hospital of Yangjiang, Yangjiang, Guangdong 529500, China.
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.
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.
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