Hereditary xerocytosis is a rare hemolytic anemia in which erythrocytes are dehydrated due to a loss of potassium and water through their cell wall membrane. In adults, this condition leads to a mild-to-moderate hemolysis. We report a case of hydrops fetalis secondary to hereditary xerocytosis. Management with intrauterine erythrocyte and albumin transfusions resulted in a favorable postnatal course.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1038/sj.jp.7211200 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
First-trimester application of non-invasive prenatal testing in the genetic investigation of fetal cystic hygroma and hydrops fetalis associated with Turner syndrome.
Taiwan J Obstet Gynecol
January 2025
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan. Electronic address:
Severe neonatal hypotonia due to variant affecting function of ZnT5 zinc transporter.
JIMD Rep
January 2025
The Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences Ben Gurion University Beer-Sheva Israel.
The tightly-regulated spatial and temporal distribution of zinc ion concentrations within cellular compartments is controlled by two groups of Zn transporters: the 14-member ZIP/SLC39 family, facilitating Zn influx into the cytoplasm from the extracellular space or intracellular organelles; and the 10-member ZnT/SLC30 family, mobilizing Zn in the opposite direction. Genetic aberrations in most zinc transporters cause human syndromes. Notably, previous studies demonstrated osteopenia and male-specific cardiac death in mice lacking the ZnT5/ zinc transporter, and suggested association of two homozygous frameshift variants with perinatal mortality in humans, due to hydrops fetalis and hypertrophic cardiomyopathy.
View Article and Find Full Text PDFHow I use noninvasive prenatal testing for red blood cell and platelet antigens.
Blood
December 2024
Sanquin, Amsterdam, Netherlands.
Alloimmunization during pregnancy occurs when a mother produces antibodies against fetal antigens, leading to complications like hemolytic disease of the fetus and newborn (HDFN) and fetal and neonatal alloimmune thrombocytopenia (FNAIT). HDFN involves destruction of fetal red blood cells, potentially causing severe anemia, hydrops fetalis, and fetal death. FNAIT affects fetal platelets and possibly endothelial cells, resulting in risk of intracranial hemorrhage and brain damage.
View Article and Find Full Text PDFCranial, Renal, and Skeletal Anomalies in a Fetus With a Pathogenic Variant in the TAFAZZIN Gene.
Prenat Diagn
January 2025
Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.
Objective: To report a case of a fetus with multiple congenital anomalies and suspected Barth syndrome, highlighting potential phenotypic expansion of the syndrome.
Methods: A 32-year-old G4P2011 patient was referred at 18w5d gestation for suspected fetal encephalocele. Serial imaging, including ultrasound and MRI, was performed to evaluate fetal anomalies.
Application of third-generation sequencing technology in the genetic testing of thalassemia.
Mol Cytogenet
December 2024
Prenatal Diagnostic Center, Medical Genetics Center, Department of Obstetrics and Gynaecology, The Seventh Affiliated Hospital of Sun Yat-sen University, 628 Zhenyuan Rd., Guangming Dist., Shenzhen, China.
Thalassemia is an autosomal recessive genetic disorder and a common form of Hemoglobinopathy. It is classified into α-thalassemia and β-thalassemia. This disease is mainly prevalent in tropical and subtropical regions, including southern China.
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!