Comparison between capillary zone electrophoresis and capillary isoelectric focusing for thalassemia screening in southern China

Lü, Feng; Dai, Qinsheng; Zhang, Xia; Zhou, Wenjie; Gao, Ju; Ge, Zhen

doi:10.1002/jcla.22567

Cited by 5 publications

(2 citation statements)

References 12 publications

(19 reference statements)

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“…CE is one of the most common techniques for haemoglobinopathy testing and has been used in prevention and control programmes of haemoglobinopathies 19–22. In this study, the characteristics of Hb Akron with different forms of CE were described for the first time, which is particularly important for screening and diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Molecular characterisation of Hb Akron [β52 (D3) Asp→Val] combined with thalassaemia in a Chinese family

Wang

Shang

et al. 2022

J Clin Pathol

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AimsHb Akron (HBB:c.158A>T) is a rare β-chain variant and many characteristics about its clinical features still remain unclear. In this study, we aimed to explore the molecular and haematological characterisations of previously undescribed states for Hb Akron associated with different forms of thalassaemia.MethodsHaematology and genetic analysis were performed in 9 members from a Chinese Zhuang ethnic family.ResultsHb Akron in various combinations with β0-thalassaemia and α0-thalassaemia were identified and characterised. Simple heterozygote for Hb Akron is asymptomatic, while the compound heterozygotes of Hb Akron associated with the β0-thalassaemia mutation generates a more severe haematological phenotype than Hb Akron or β0-thalassaemia mutation seen in isolation. The specific peak of Hb Akron appears at Zone D (195–225 s) in the state of heterozygote and compound heterozygote on haemoglobin capillary electrophoresis device, and the reduction of Hb Akron level in heterozygotes is proportional to the degree of α-globin gene deficiency.ConclusionsWe have for the first time described the genetic and haematological characteristics of Hb Akron combined with different thalassaemia mutations, which will provide useful information for genetic counselling and prenatal diagnostic service of this mutation in a population with high prevalence of thalassaemia.

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Section: Discussionmentioning

confidence: 99%

Molecular characterisation of Hb Akron [β52 (D3) Asp→Val] combined with thalassaemia in a Chinese family

Wang

Shang

et al. 2022

J Clin Pathol

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“…Each electropherogram had color-coded distinct peaks in 15 different zones and was calculated as a percentage. Data were recorded and analyzed using Phoresis CORE (Version 2.0) [16,17]. Potential Hb variants located in 15 different zones (Z1 to Z15) of Sebia-based capillary zone electrophoresis (See Supplementary Table S1).…”

Section: Sample Preparation and Analysismentioning

confidence: 99%

Spectrum of Thalassemia and Hemoglobinopathy Using Capillary Zone Electrophoresis: A Facility-Based Single Centred Study at icddr,b in Bangladesh

Hasan,

Ahmed,

Chanda

et al. 2023

Thalassemia Reports

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Background: Although the global thalassemia zone covers Bangladesh, there are very limited studies conducted in this region. Therefore, the focus of our study is to understand the prevalence and burden of thalassemia and hemoglobinopathy in Bangladesh. Methods: The analysis was based on a retrospective evaluation of laboratory diagnoses between 2007 January and 2021 October. A total of 8503 specimens were sampled and analyzed which were either referred by corresponding physicians or self-referred. This was neither any epidemiological nationwide survey nor was the study population chosen randomly. Hematological data were obtained through capillary zone electrophoresis and corresponding complete blood count. Results: 1971 samples (~23.18% of the total) were found with at least one inherited hemoglobin disorder. The most common hemoglobin disorder observed was the hemoglobin E (Hb E) trait (10.67%), followed by the β-thalassemia trait (8.4%), homozygotic Hb E (1.59%), and Hb E/β-thalassemia (1.58%). Other variants found in this study with minimal percentages were Hb N-Seattle, Hb S, Hb D-Punjab, Hb Lepore, Hb C, Hb Hope, Hb H, and hereditary persistence of fetal hemoglobin. Discussion: The pattern of thalassemia and hemoglobinopathy in our study is diverse and heterogeneous. A broad and detailed spectrum of such inherited hemoglobin disorders will ultimately be helpful in implementing nationwide thalassemia management and strategy policy in Bangladesh.

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Advances in screening of thalassaemia

Gao

Liu²

2022

Clinica Chimica Acta

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Comparison between capillary zone electrophoresis and capillary isoelectric focusing for thalassemia screening in southern China

Abstract: Compared with capillary zone electrophoresis, capillary isoelectric focusing applied on Helena V8 maybe is not the first choice for hemoglobinopathy testing in southern China.

Cited by 5 publications

References 12 publications

Molecular characterisation of Hb Akron [β52 (D3) Asp→Val] combined with thalassaemia in a Chinese family

Molecular characterisation of Hb Akron [β52 (D3) Asp→Val] combined with thalassaemia in a Chinese family

Spectrum of Thalassemia and Hemoglobinopathy Using Capillary Zone Electrophoresis: A Facility-Based Single Centred Study at icddr,b in Bangladesh

Advances in screening of thalassaemia

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