EF Bart's disease is a rare form of nontransfusion-dependant thalassemia (NTDT) due to the coinheritance of homozygous hemoglobin ( / ) genotype with hemoglobin H disease. These individuals are routinely found to have thalassemia intermedia with moderate anemia, increased hemoglobin Bart's and hemoglobin F on electrophoresis. The contribution of hemoglobin F-inducing polymorphisms in this disease has not been described previously. Here, we describe the hematological profile in a young child with coinheritance of G-XmnI and A-globin gene polymorphisms in EF Bart's disease. Interestingly, in this rare form of NTDT, normal HbF and elevated HbA2 were noted.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7647742 | PMC |
| http://dx.doi.org/10.1155/2020/8869335 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Household transmission of SARS-CoV-2 in five US jurisdictions: Comparison of Delta and Omicron variants.
PLoS One
January 2025
COVID-19 Response Team, Centers for Disease Control and Prevention, Atlanta, Georgia, United States of America.
Households are a significant source of SARS-CoV-2 transmission, even during periods of low community-level spread. Comparing household transmission rates by SARS-CoV-2 variant may provide relevant information about current risks and prevention strategies. This investigation aimed to estimate differences in household transmission risk comparing the SARS-CoV-2 Delta and Omicron variants using data from contact tracing and interviews conducted from November 2021 through February 2022 in five U.
View Article and Find Full Text PDFThe guide extension-facilitated ostial stenting (GEST) technique uses a guide extension catheter (GEC) to improve stent delivery during primary coronary angioplasty (PCI). GECs are used for stent delivery into the coronary arteries of patients with difficult anatomy due to tortuosity, calcification, or chronic total occlusion (CTO) vessels. Stent and balloon placement has become challenging in patients with increasing lesion complexity due to tortuosity, vessel morphology, length of the lesion, and respiratory movements.
View Article and Find Full Text PDFImmunotherapeutic targeting of aging-associated isoDGR motif in chronic lung inflammation.
Aging Cell
January 2025
School of Biological Sciences, Nanyang Technological University, Singapore, Singapore.
Accumulation of damaged biomolecules in body tissues is the primary cause of aging and age-related chronic diseases. Since this damage often occurs spontaneously, it has traditionally been regarded as untreatable, with typical therapeutic strategies targeting genes or enzymes being ineffective in this domain. In this report, we demonstrate that an antibody targeting the isoDGR damage motif in lung tissue can guide immune clearance of harmful damaged proteins in vivo, effectively reducing age-linked lung inflammation.
View Article and Find Full Text PDFNewborn 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 PDFApplication 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!