ArticleThe Clinical biochemist. Reviews2006
Diagnosis of the haemoglobinopathies.
Article in The Clinical biochemist. Reviews, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 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
18 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Artemisinin Therapy for Malaria in Hemoglobinopathies: A Systematic Review.Clinical infectious diseases : an official publication of the Infectious Diseases Society of America · 2018Pooled it
- Challenges in Glycemic Monitoring: Undetectable HbA1c Level in an Asymptomatic Patient With Hemoglobin E and Beta-Thalassemia Minor: A Case Report.Journal of the ASEAN Federation of Endocrine Societies · 2026Article
- A pilot study on the prevalence and patterns of haemoglobinopathies in Datia District, Madhya Pradesh, India.Scientific reports · 2025Article
- A Comparative Analysis of Haemoglobinopathy Diagnostic Techniques-The Ghanaian Picture and the Way Forward: A Narrative Review.Health science reports · 2025Review
- Red cell distribution width as a surrogate marker of haemoglobinopathies in western Kenya.African journal of laboratory medicine · 2022Article
- Prevalence of iron deficiency anemia and beta thalassemia carriers among relatives of beta thalassemia patients in Nile Delta region, Egypt: a multicenter study.The Journal of the Egyptian Public Health Association · 2021Article
- Artemisinin derivative-containing therapies and abnormal hemoglobin: Do we need to adapt the treatment?Parasite (Paris, France) · 2021Article
- Recent Approaches for Manipulating Globin Gene Expression in Treating Hemoglobinopathies.Frontiers in genome editing · 2021Review
- Thalassemia review: features, dental considerations and management.Electronic physician · 2017Review
- MALDI-ISD Mass Spectrometry Analysis of Hemoglobin Variants: a Top-Down Approach to the Characterization of Hemoglobinopathies.Journal of the American Society for Mass Spectrometry · 2015Article
- Raman spectroscopy for a rapid diagnosis of sickle cell disease in human blood samples: a preliminary study.Lasers in medical science · 2015Article
- Article
- "He didn't say that thalassaemia might come up" - β-thalassaemia carriers' experiences and attitudes.Journal of community genetics · 2013Article
- Top-down proteomics and direct surface sampling of neonatal dried blood spots: diagnosis of unknown hemoglobin variants.Journal of the American Society for Mass Spectrometry · 2012Article
- The use of the white cell count and haemoglobin in combination as an effective screen to predict the normality of the full blood count.International journal of laboratory hematology · 2012Article
- Efficient detection of Mediterranean β-thalassemia mutations by multiplex single-nucleotide primer extension.PloS one · 2012Article
- Carrier screening for beta-thalassaemia: a review of international practice.European journal of human genetics : EJHG · 2010Review
- HBE homozygous haemoglobinpathy - Fortuitous finding.Journal of oral and maxillofacial pathology : JOMFPArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Despite having been extensively studied at both the biochemical, haematological and molecular levels, the haemoglobinopathies continue to provide a diagnostic challenge particularly in the multiethnic communities seen in Australia. Early detection and characterisation of the haemoglobinopathies is essential so that appropriate counselling can be provided to couples and families who may be at risk of severe haematological consequences. Although DNA diagnostics have made a major impact on our understanding and detection of the haemoglobinopathies, DNA mutation testing should never be considered a short cut or the test of first choice in the workup of a haemoglobinopathy. A careful three tier approach involving: (1) Full blood count (2) Special haematological tests, followed by (3) DNA mutation analysis, provides the most effective way in which to detect primary gene mutations as well as gene-gene interactions that can influence the overall phenotype. Just as important as the laboratory investigations is the family work up. Often, the first and most helpful clue to gene gene interactions comes from the family study. In Australia, there are many different forms of alpha and beta thalassaemia. Increasingly, different Hb Variants are being detected, and their effects per se, or in combination with the thalassaemias, provide additional diagnostic challenges.
Identifiers
16886045PMC1390791What OpenQuestion holds
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.