Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1081/hem-120021548 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Haplotype-Resolved Genotyping and Association Analysis of 1,020 β-Thalassemia Patients by Targeted Long-Read Sequencing.
Adv Sci (Weinh)
December 2024
Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, 510515, China.
Despite the well-documented mutation spectra of β-thalassemia, the genetic variants and haplotypes of globin gene clusters modulating its clinical heterogeneity remain incompletely illustrated. Here, a targeted long-read sequencing (T-LRS) is demonstrated to capture 20 genes/loci in 1,020 β-thalassemia patients. This panel permits not only identification of thalassemia mutations at 100% of sensitivity and specificity, but also detection of rare structural variants (SVs) and single nucleotide variants (SNVs) in modifier genes/loci.
View Article and Find Full Text PDFHematologic Parameters Cut-off Assessment of Adult Alpha-Thalassemia Patients in Iran.
Int J Hematol Oncol Stem Cell Res
October 2024
Thalassemia & Hemoglobinopathy Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Thalassemia is one of the most common blood disorders in Iran. Alpha-thalassemia is caused by the deletion of the alpha-globin gene. The frequency of deletions in the alpha-globin gene is associated with microcytosis and hypochromia, making hematological parameters valuable predictive tools in the initial identification of alpha-thalassemia patients.
View Article and Find Full Text PDFNonimmune hydrops fetalis diagnosed at 35 weeks gestation - a case report.
Rom J Morphol Embryol
November 2024
Department of Medical Informatics and Biostatistics, University of Medicine and Pharmacy of Craiova, Romania;
Nonimmune hydrops fetalis (NIHF) is a condition that can occur at any stage of pregnancy and is linked to a variety of disorders, resulting in severe perinatal complications and increased mortality risk. NIHF refers specifically to cases where maternal antibodies against red blood cell antigens are excluded. Early identification of the underlying causes is essential for managing pregnancy and deciding on treatment.
View Article and Find Full Text PDFIdentification of a novel 145 kb deletion (Guigang deletion, -) in the alpha-globin gene cluster from a Chinese newborn using third-generation sequencing.
Hematology
December 2024
Center for Medical Genetics and Prenatal Diagnosis, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, People's Republic of China.
Objective: To describe a novel α-thalassemiadeletion identified from a newborn by third-generation sequencing (TGS).
Case Report: The proband, a newborn subject to neonatal capillary electrophoresis (CE) screening, exhibited suspected α-thalassemia carrier status (Hb Bart's 3.0%).
Identification of a Novel Frameshift variant of the ATRX gene: a Case Report and Review of the genotype-phenotype relationship.
BMC Pediatr
October 2024
Department of Rehabilitation, Anhui Provincial Children's Hospital, Hefei, China.
Background: X-linked intellectual disability-hypotonic facies syndrome-1 (MRXHF1) and Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome are caused by pathogenic variant in the ATRX gene, a member of the switch/sucrose non-fermentable (SWI-SNF) protein family that exhibits chromatin remodeling activity. These syndromes show a wide spectrum of clinical manifestations, such as distinctive dysmorphic features, mild-to-profound intellectual disability, motor development delay, seizures, urogenital abnormalities, and gastrointestinal disorders.
Case Presentation And Literature Review: A 3-year-old boy from a Chinese non-consanguineous family was diagnosed with MRXHF1 by whole-exome sequencing.
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!