ReviewInternational journal of laboratory hematology2022
The hemoglobinopathies, molecular disease mechanisms and diagnostics.
Review in International journal of laboratory hematology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
58 citing papers in PubMed, 1 synthesis or guideline pooled it, 84 citations in OpenAlex.
- The application of next-generation sequencing technology in congenital haemolytic anaemia: a systematic review and meta-analysis.Clinical and experimental medicine · 2025Pooled it
- Gene therapy for hereditary hematological disorders: From clinical breakthroughs to future horizons.Molecular therapy. Nucleic acids · 2026Review
- Prenatal diagnosis of hemoglobinopathies by chorionic villus sampling: A large single-center experience.Turkish journal of obstetrics and gynecology · 2026Article
- Technical Considerations for Blood RNA Sequencing in Genetic Testing: Evaluation of Globin Depletion Methods, Batch Effects, and Sample Types.Annals of laboratory medicine · 2026Article
- Thalassaemia.Nature reviews. Disease primers · 2026Review
- Performance of the automated DNA extraction with MagNA Pure 24 for further genetic testing for hemoglobinopathies with Globin StripAssays.Wiener klinische Wochenschrift · 2026Article
- Gene Therapy for β-Haemoglobinopathies: From Molecular Correction to Curative Medicine.Biomedicines · 2026Review
- Application of targeted sequencing in the molecular diagnosis of thalassemia in Southern China.Scientific reports · 2026Article
- Osteoporosis in children and adolescents with transfusion-dependent thalassemia and the diagnostic value of different indicators.BMC pediatrics · 2026Article
- Mapping Current and Emerging Laboratory Techniques for Haemoglobinopathy Carrier Detection and Prevention: A Narrative Review from the HELIOS Action.International journal of molecular sciences · 2026Review
- Activated partial thromboplastin time prolongation without hemorrhagic dienhesis: a study of a chinese family coexisting with hereditary KNG1 p.Arg240 mutation and --SEA/αα genotype thalassemia.Annals of hematology · 2026Article
- Updated Review of Current Therapeutic Approaches for the Management of Sickle Cell Disease.Cardiovascular & hematological disorders drug targets · 2026Review
- Analysis of clinical parameters of different types of α-thalassemia children in Hainan region, China.PeerJ · 2026Article
- First Symptomatic Pediatric Case of Hb Rothschild (Diagnostics (Basel, Switzerland) · 2025Article
- Knowledge, Attitude, and Practice of Sickle Cell Disease Among Sickle Cell Disease Patients in Sudurpashchim Province of Nepal: A Cross-Sectional Study.Health science reports · 2025Article
- Allogeneic Hematopoietic Stem Cell Transplantation as a Therapeutic Approach for Hereditary Diseases.Biomedicines · 2025Review
- Multi-centric origins and gene flow shape the diversity of β-thalassemia mutations in Southern East Asia.Nature communications · 2025Article
- CRISPR Technology in Disease Management: An Updated Review of Clinical Translation and Therapeutic Potential.Cell proliferation · 2025Article
- Sickle Cell Disease and Gene Therapy Among African Americans: A Dilemma and Challenge.Journal of racial and ethnic health disparities · 2025Review
- Hemoglobinopathies and iron deficiency among Northeast-Thai blood donors deferred for low hemoglobin.Scientific reports · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hemoglobinopathies are the most common monogenic disorders in the world with an ever increasing global disease burden each year. As most hemoglobinopathies show recessive inheritance carriers are usually clinically silent. Programmes for preconception and antenatal carrier screening, with the option of prenatal diagnosis are considered beneficial in many endemic countries. With the development of genetic tools such as Array analysis and Next Generation Sequencing in addition to state of the art screening at the hematologic, biochemic and genetic level, have contributed to the discovery of an increasing number of rare rearrangements and novel factors influencing the disease severity over the recent years. This review summarizes the basic requirements for adequate carrier screening analysis, the importance of genotype-phenotype correlation and how this may lead to the unrevealing exceptional interactions causing a clinically more severe phenotype in otherwise asymptomatic carriers. A special group of patients are β-thalassemia carriers presenting with features of β-thalassemia intermedia of various clinical severity. The disease mechanisms may involve duplicated α-globin genes, mosaic partial Uniparental Isodisomy of chromosome 11p15.4 where the HBB gene is located or haplo-insufficiency of a non-linked gene SUPT5H on chromosome 19q, first described in two Dutch families with β-thalassemia trait without variants in the HBB gene.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.