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Molecular Advances in Blood Disorders

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 30 October 2025 | Viewed by 1331

Special Issue Editor


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Guest Editor
Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Šlajmerjeva 4, SI-1000 Ljubljana, Slovenia
Interests: diagnostics of rare genetic disorders; haematological inherited and acquired disorders; molecular genetic testing; prenatal and pre-implantation genetic diagnostics; clinical biochemistry

Special Issue Information

Dear Colleagues,

Recent advancements in molecular biology, (epi)genomics, and therapeutics have revolutionized our understanding of blood disorders, from common, acquired to rare, inherited conditions over a spectrum, ranging from anaemia and disorders of haemostasis and thrombosis to complex malignancies such as myeloproliferative neoplasms. A deeper understanding of blood disease pathophysiology has paved the way for improved diagnostic procedures, prognostic and predictive values, novel targeted therapeutics, and predictions of clinical outcomes.

This Special Issue aims to gather high-quality contributions with a focus on innovative findings, approaches, and advances in molecular profiling; potential or novel diagnostic, prognostic, or predictive biomarkers; molecular monitoring; and targeted therapeutic approaches of acquired or inherited blood disorders.

By compiling these advancements, this Special Issue aspires to serve as a comprehensive resource for researchers, clinicians, medical laboratory scientists, and other healthcare professionals dedicated to advancing knowledge of these disorders. Original research articles and reviews are all highly welcome.

Dr. Tadej Pajič
Guest Editor

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Keywords

  • acquired and inherited blood disorders
  • diagnostic, prognostic and predictive biomarkers
  • molecular profiling
  • molecular monitoring
  • targeted therapy
  • leukaemia
  • lymphoma
  • disorders of haemostasis and thrombosis, genetic predisposition
  • germline pathogenic variants
  • molecular mechanisms
  • (epi)genomics

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Published Papers (1 paper)

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21 pages, 1232 KiB  
Article
Non-Invasive Determination of the Paternal Inheritance in Pregnancies at Risk for β-Thalassaemia by Analyzing Cell-Free Fetal DNA Using Targeted Next-Generation Sequencing
by Stefania Byrou, Rutger W. W. Brouwer, Marios Tomazou, Stella Tamana, Petros Kountouris, Carsten W. Lederer, Miranda Petrou, Zeliha Ozgur, Xander den Dekker, Zakia Azmani, Soteroula Christou, Christiana Makariou, Marina Kleanthous, Wilfred F. J. van IJcken and Thessalia Papasavva
Int. J. Mol. Sci. 2025, 26(2), 570; https://doi.org/10.3390/ijms26020570 - 10 Jan 2025
Viewed by 789
Abstract
Non-invasive prenatal testing (NIPT) has been widely adopted for the screening of chromosomal abnormalities; however, its adoption for monogenic disorders, such as β-thalassaemia, has proven challenging. Haemoglobinopathies are the most common monogenic disorders globally, with β-thalassaemia being particularly prevalent in Cyprus. This study [...] Read more.
Non-invasive prenatal testing (NIPT) has been widely adopted for the screening of chromosomal abnormalities; however, its adoption for monogenic disorders, such as β-thalassaemia, has proven challenging. Haemoglobinopathies are the most common monogenic disorders globally, with β-thalassaemia being particularly prevalent in Cyprus. This study introduces a non-invasive prenatal haplotyping (NIPH) assay for β-thalassaemia, utilizing cell-free DNA (cfDNA) from maternal plasma. The assay determines paternal inheritance by analyzing highly heterozygous single-nucleotide variants (SNVs) in the β-globin gene cluster. To identify highly heterozygous SNVs in the population, 96 randomly selected samples were processed using Illumina DNA-prep NGS chemistry. A custom, high-density NGS genotyping panel, named HAPLONID, was designed with 169 SNVs, including 15 common pathogenic ones. The AmpliSeq for Illumina assay was then applied to cfDNA to evaluate the panel’s efficiency in performing NIPT for β-thalassaemia. Analysis revealed 219 highly polymorphic SNVs, and the sequencing of 17 families confirmed successful paternal allele determination. The NIPH assay demonstrated 100% success in diagnostic interpretation. This study achieved the advancement of an integrated NGS-NIPT assay for β-thalassaemia, bringing it one step closer to being a diagnostic assay and thereby enabling a reduction in the number of risky invasive prenatal sampling procedures in Cyprus and elsewhere. Full article
(This article belongs to the Special Issue Molecular Advances in Blood Disorders)
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