Complex phenotypes in the haemoglobinopathies: recommendations on screening and DNA testing

Trent, Ronald J.; Webster, Bruce; Bowden, Donald Keith; Gilbert, Anne; Ho, P. Joy; Lindeman, Robert; Lammi, Ahti; Rowell, J.; Hinchcliffe, Marcus; Colley, Alison; Wilson, Meredith; Saleh, Mona; Blackwell, Jennifer M.; Petrou, Vicki

doi:10.1080/00313020601027634

Cited by 8 publications

(7 citation statements)

References 12 publications

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“…The detection and characterization of hemoglobinopathy involves a three-tier work-up: (i) full blood count, (ii) special hematological tests, and (iii) DNA testing (Trent et al, 2006). DNA testing is particularly important in a-thalassemia where the carrier status could be heterozygous polyA mutation, cis or trans deletion.…”

Section: Discussionmentioning

confidence: 99%

Molecular Spectrum of α-Thalassemia Mutations in Microcytic Hypochromic Anemia Patients from Saudi Arabia

Hellani

Fadel

El-Sadadi

et al. 2009

Genetic Testing and Molecular Biomarkers

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Section: Discussionmentioning

confidence: 99%

Molecular Spectrum of α-Thalassemia Mutations in Microcytic Hypochromic Anemia Patients from Saudi Arabia

Hellani

Fadel

El-Sadadi

et al. 2009

Genetic Testing and Molecular Biomarkers

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“…Initial investigations include full blood count (FBC), blood film, ferritin, Hb electrophoresis and high performance liquid chromatography (HPLC) for quantification of HbA2, HbF and variant Hbs. Normal RBC indices including mean cell volume, mean corpuscular haemoglobin and blood film do not exclude carrier status for α thalassaemia or β‐globin gene variants including SCD . FBC is not sufficient for screening for haemoglobinopathies and HPLC or Hb electrophoresis are required to help exclude carrier status .…”

Section: Treatment Strategiesmentioning

confidence: 99%

“…Consensus recommendations from Trent et al . propose that haemoglobinopathy screening should always include a FBC and Hb analysis including HbA2 quantification …”

Section: Treatment Strategiesmentioning

confidence: 99%

“…Consensus recommendations from Trent et al propose that haemoglobinopathy screening should always include a FBC and Hb analysis including HbA2 quantification. 19 Cyprus is an example of successful screening and prevention of β TM. In the 1970s, the predicted future healthcare burden from β TM was recognised and a control programme established.…”

Section: Treatment Strategies Screening and Preventionmentioning

confidence: 99%

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Haemoglobin disorders in Australia: where are we now and where will we be in the future?

Crighton

Wood

Scarborough

et al. 2016

Internal Medicine Journal

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Inherited disorders of haemoglobin (Hb), such as thalassaemia and sickle cell disease (SCD) are common and responsible for significant morbidity and mortality on a global scale. As Australia becomes increasingly ethnically diverse, their prevalence will increase. However, we lack important demographic and epidemiological data to manage these disorders and their consequences and to support affected individuals and communities. Thalassaemia and SCD are lifelong conditions. Affected individuals have reduced life expectancies, poorer quality of life and complex healthcare needs. Treatment strategies currently focus on prenatal diagnosis, red blood cell transfusion, iron chelation, management of iron-related complications, haemopoietic stem cell transplantation (HSCT) and hydroxyurea. Currently, the only curative therapy is HSCT; however, gene therapy offers the possibility of cure and trials are currently underway. These therapies are associated with significant complications and substantial costs; there is also evidence of variation in approaches to diagnosis and care. Optimal strategies for many aspects of management are not yet defined and more research is necessary to inform clinical care and health service delivery.

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“…When a mutation cannot be identified by the above-mentioned methods, characterization may be done by denaturating gradient gel electrophoresis (DGGE) or single-strand conformation polymorphism analysis and direct sequencing (Cao et al, 1998;Traeger-Synodinos et al, 2002). As mentioned above, bthalassemia carrier detection is performed both by hematological and DNA analyses (Cao et al, 2002;Trent et al, 2006).…”

Section: Introductionmentioning

confidence: 99%

The Italian Scheme of External Quality Assessment for β-Thalassemia: Genotyping and Reporting Results and Testing Strategies in a 5-Year Survey

Tosto

Salvatore

Falbo

et al. 2009

Genetic Testing and Molecular Biomarkers

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The Italian scheme of External Quality Assessment for beta-thalassemia started in 2001 as part of a project twice funded by the Italian Ministry of Health and coordinated by the Istituto Superiore di Sanità. To date, five trials have been performed (2001-2004 and 2006). The aim of the Italian scheme is to help public laboratories in improving and reaching a high standard of quality when performing a molecular test. Many laboratories took part in the 5-year project, and their participation was constant during the whole period. The aims of this paper are to describe the genotyping and reporting results as well as focusing on the techniques and the testing strategies adopted to detect mutations. Almost 99% of the alleles analyzed were correctly detected by laboratories, while 0.33% of the analyses gave a wrong result. Reverse dot blot was the most used technique, and it was always used in the strategies adopted by laboratories to detect mutations. The reports sent by laboratories showed incompleteness and heterogeneity; thus, a new model for written reports has been introduced since 2004. It will be interesting to monitor the effects of the reporting model and the output of this educational action in the future.

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Complex phenotypes in the haemoglobinopathies: recommendations on screening and DNA testing

Cited by 8 publications

References 12 publications

Molecular Spectrum of α-Thalassemia Mutations in Microcytic Hypochromic Anemia Patients from Saudi Arabia

Molecular Spectrum of α-Thalassemia Mutations in Microcytic Hypochromic Anemia Patients from Saudi Arabia

Haemoglobin disorders in Australia: where are we now and where will we be in the future?

The Italian Scheme of External Quality Assessment for β-Thalassemia: Genotyping and Reporting Results and Testing Strategies in a 5-Year Survey

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