HPLC as a Screening Tool for Beta-Thalassaemia Trait in Malaysia
Journal name: The Malaysian Journal of Medical Sciences
Original article title: High Performance Liquid Chromatography (HPLC) as a Screening Tool for Classical Beta-Thalassaemia Trait in Malaysia
The Malaysian Journal of Medical Sciences (MJMS) is a peer-reviewed, open-access journal published online at least six times a year. It covers all aspects of medical sciences and prioritizes high-quality research.
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Original source:
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Elizabeth George, A. Rahman Jamal, Faridah Khalid, Kamarul Ariffin Osman
The Malaysian Journal of Medical Sciences:
(A peer-reviewed, open-access journal)
Full text available for: High Performance Liquid Chromatography (HPLC) as a Screening Tool for Classical Beta-Thalassaemia Trait in Malaysia
Year: 2001
Copyright (license): CC BY 4.0
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Summary of article contents:
Introduction
Beta-thalassaemia is a genetic disorder marked by reduced (β+) or absent (β0) synthesis of β-globin chains in human hemoglobin. Individuals who are heterozygous carriers for either β+ or β0 mutations exhibit a condition known as beta-thalassaemia trait, identifiable by elevated levels of Hemoglobin A2 (Hb A2, α2δ2). Traditionally, laboratories in Malaysia relied on methods like cellulose acetate electrophoresis and microcolumn chromatography to measure Hb A2 levels. However, high-performance liquid chromatography (HPLC) has emerged as a more effective diagnostic tool for this purpose, albeit implemented in only a limited number of labs.
Measuring Hb A2 Levels
One crucial aspect of the study is to establish an appropriate cut-off level for Hb A2 using HPLC to diagnose classical beta-thalassaemia trait, which can eventually lead to beta-thalassaemia major, characterized by dependency on red blood cell transfusions. This study found that HPLC is a quick and efficient method for measuring Hb A2 levels and determined a cut-off threshold of Hb A2 >4.0% as a reliable predictor for the majority of beta-thalassaemia carriers. The research also highlighted that a combination of a full blood count (FBC) and specific automated red blood cell indices, alongside Hb A2 measurement via HPLC, can streamline the screening process for beta-thalassaemia carriers, allowing for subsequent definitive DNA diagnostics.
Conclusion
In conclusion, the study emphasizes the efficacy of HPLC in screening for beta-thalassaemia, showcasing its speed and accuracy in identifying Hb A2 levels. The identification of a cut-off level for Hb A2 aids in the presumptive diagnosis of beta-thalassaemia trait, thereby highlighting the potential for timely and effective clinical intervention. Given that unstable hemoglobins can also influence Hb A2 levels, attention to red cell indices is essential for an accurate diagnosis. This multifaceted diagnostic approach can enhance the identification of beta-thalassaemia carriers and ultimately improve patient management and outcomes.
FAQ section (important questions/answers):
What is beta-thalassaemia and its main characteristics?
Beta-thalassaemia is caused by reduced or absent beta-globin chain synthesis. Individuals with β+ (heterozygous) experience elevated Hb A2 levels, which indicates the beta-thalassaemia trait.
What method is recommended for estimating Hb A2 levels?
High-performance liquid chromatography (HPLC) is the recommended method for estimating Hb A2 levels. It offers speed and reliability compared to traditional methods like cellulose acetate electrophoresis.
What is the cut-off level for Hb A2 in carriers?
A cut-off level of Hb A2 greater than 4.0% is suggested to identify most carriers of classical beta-thalassaemia effectively.
How was the study on beta-thalassaemia conducted?
The study involved 26 parents of transfusion-dependent beta-thalassaemia patients, collecting blood samples and analyzing them with an automated blood counter and HPLC for Hb A2 levels.
Glossary definitions and references:
Scientific and Ayurvedic Glossary list for “HPLC as a Screening Tool for Beta-Thalassaemia Trait in Malaysia”. This list explains important keywords that occur in this article and links it to the glossary for a better understanding of that concept in the context of Ayurveda and other topics.
1) Beta (Bēṭa, Beṭa):
Beta refers to the β-globin chains of human hemoglobin, whose synthesis is decreased or absent in beta-thalassaemia. Understanding beta is crucial for identifying thalassaemia traits and calculating Hb A2 levels, as alterations can significantly impact the diagnosis and management of the disorder across affected populations.
2) Blood:
Blood is the vital fluid that carries oxygen and nutrients throughout the body, comprising red blood cells, white blood cells, and platelets. In the context of beta-thalassaemia, blood tests, including full blood counts, are essential for assessing hemoglobin levels, identifying thalassaemia traits, and guiding treatment decisions.
3) Performance:
Performance in this context refers to the efficacy and speed of the high-performance liquid chromatography (HPLC) method used for measuring Hb A2 levels. The method's performance is critical in differentiating carriers of beta-thalassaemia from non-carriers, enabling rapid diagnosis and appropriate clinical management of patients.
4) Measurement:
Measurement pertains to the quantification of Hb A2 levels utilizing methods such as HPLC. Accurate measurement is vital in diagnosing beta-thalassaemia and evaluating the severity of the trait, thereby influencing treatment strategies, including transfusion dependency for affected patients and genetic counseling for families.
5) Study (Studying):
Study refers to the research conducted to determine the cut-off level for Hb A2 in diagnosing classical beta-thalassaemia. This study involves analyzing a specific population, utilizing advanced techniques, and ultimately increases understanding of the disorder, leading to better diagnostic frameworks and patient management strategies.
6) Reliability:
Reliability signifies the consistency and accuracy of the HPLC method for quantifying Hb A2 levels. High reliability in hematological measurements ensures that patients receive correct diagnoses and appropriate care. A reliable testing method is fundamental for screening beta-thalassaemia, helping to identify carriers and inform treatment decisions.
Other Science Concepts:
Discover the significance of concepts within the article: ‘HPLC as a Screening Tool for Beta-Thalassaemia Trait in Malaysia’. Further sources in the context of Science might help you critically compare this page with similair documents:
Informed consent, High performance liquid chromatography, HPLC, HPLC system, Red cell indices, Cut-off level, DNA studies, Full blood count, Blood count, MCH, Red blood cell indices, Abnormal haemoglobin, MCV.