AI Article Synopsis
Article Abstract
Background: To evaluate whether the quantification of fetal hemoglobin (Hb) Bart's is useful for differentiation of α-thalassemia syndromes in the fetus and to characterize the fetal anemia associated with fetal α-hemoglobinopathy.
Methods: A total of 332 fetal blood specimens collected by cordocentesis were analyzed using capillary electrophoresis and the amount of Hb Bart's was recorded. The result was evaluated against thalassemia genotypes determined based on Hb and DNA analyses. Prenatal Hb and DNA characterization of the fetal anemia observed in two families was done.
Results: Among 332 fetuses investigated, Hb and DNA analyses identified 152 fetuses with normal genotypes. The remaining 180 fetuses carried α-thalassemia with several genotypes. Variable amounts of Hb Bart's were identified in all fetuses with α-thalassemia, which could be used for simple differentiation of fetal α-thalassemia genotypes. These included α- and α-thalassemia traits, homozygous α-thalassemia and Hb Constant Spring (CS), Hb H disease, Hb H-CS and Hb H-Quong Sze diseases, homozygous α-thalassemia causing the Hb Bart's hydrops fetalis and a remain uncharacterized α-thalassemia defect. The previously undescribed interactions of Hb Queens Park and Hb Amsterdam A1 with Hb E were detected in two fetuses with Hb Bart's of 0.5%. The Hb Queens Park-AEBart's disease was also noted in one pregnant woman. Prenatal analysis of the fetuses with severe fetal anemia and cardiomegaly with Hb Bart's of 9.0% and 13.6% revealed unexpectedly the homozygous Hb CS and a compound heterozygosity of Hb CS/Hb Pakse' with Hb E heterozygote, respectively.
Conclusions: The usefulness of detecting and differentiation of fetal α-thalassemia syndromes by quantifying of Hb Bart's was demonstrated. Apart from the fatal condition of Hb Bart's hydrops fetalis associated with homozygous α-thalassemia, homozygous Hb CS and a compound Hb CS/Hb Pakse' could result in severe fetal anemia and fetal complications, prenatal diagnosis is highly recommended. The simple Hb Bart's quantification of fetal blood should prove helpful in this matter.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8832766 | PMC |
| http://dx.doi.org/10.1186/s13023-022-02197-w | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Utilizing machine learning to predict the risk factors of episiotomy in parturient women.
AJOG Glob Rep
February 2025
Mother and Child Welfare Research Center, Hormozgan University of Medical Sciences, Bandar Abbas, Iran (all authors).
Background: Episiotomy has specific indications that, if properly followed, can effectively prevent women from experiencing severe lacerations that may result in significant complications like anal incontinence. However, the risk factors related to episiotomy has been the center of much debate in the medical field in the past few years.
Objective: The present study used a machine learning model to predict the factors that put women at the risk of having episiotomy using intrapartum data.
Sickle cell anaemia therapy in 2025.
Br J Haematol
December 2024
Molecular Medicine Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA.
New pharmacological therapies for sickle cell anaemia have not been as efficacious as hoped, while widespread application of curative stem cell and gene therapies is not likely to occur soon. This situation raises the question about whether more attention now be devoted to the use of hydroxyurea in this disease.
View Article and Find Full Text PDFHemolytic disease of the fetus and newborn and Rhesus alloimmunization in Latin American countries: a scoping review.
BMC Pregnancy Childbirth
December 2024
Immunology LATAM, Janssen, Mendoza, Buenos Aires, CP (1428), 1259, Argentina.
Background: Hemolytic disease of the fetus and newborn (HDFN) is a condition due to maternal blood group antibodies targeting antigens in fetal red blood cells, with significant prenatal/perinatal morbidity and mortality. Severe HDFN cases are often associated with alloimmunization against Rhesus D (RhD) or Kell antigens. Information about HDFN epidemiology and treatment in Latin American countries is limited.
View Article and Find Full Text PDFLearning curve for the perinatal outcomes of radiofrequency ablation for selective fetal reduction: a single-center, 10-year experience from 2013 to 2023.
J Perinat Med
December 2024
Department of Obstetrics and Gynecology, 26447 Peking University First Hospital, Beijing, China.
Objectives: To investigate the perinatal outcomes of SR using radiofrequency ablation (RFA) in MC pregnancies, identified factors affecting these outcomes, and assessed the associated learning curve.
Methods: This retrospective cohort study included all consecutive MC pregnancies that required RFA from September 2013 to April 2023 at our institution. The perinatal outcomes were compared on the basis of various indications, and binary logistic regression analysis was performed to identify the risk factors for cotwin loss.
Scientometrics Analysis of Global Researches on Anemia.
Int J Hematol Oncol Stem Cell Res
October 2024
Department of Knowledge and Information Sciences, School of Social Sciences, Yazd University, Yazd, Iran.
Anemia is a condition in which the number of red blood cells or the hemoglobin concentration within them is lower than normal. This study aims to show the intellectual structure of knowledge regarding anemia and gives a comprehensive and up-to-date image of research in this area. This is a descriptive-analytical study with a scientometric approach.
View Article and Find Full Text PDFWant 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!