Characterization of Hb Constant Spring and Quong Sze via CARMS.
Journal name: The Malaysian Journal of Medical Sciences
Original article title: Molecular characterisation of Haemoglobin Constant Spring and Haemoglobin Quong Sze with a Combine-Amplification Refractory Mutation System
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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Summary of article contents:
Introduction
Thalassaemia, a notable public health concern in Malaysia, particularly afflicts the Chinese and Malay populations, with carrier rates estimated at 4.5% and 2.5%, respectively. The pathology can lead to varying degrees of severity, especially with α-thalassaemia conditions. Among these, non-deletional Haemoglobin H (HbH) diseases, classified into α0-thalassaemia with an α-globin structural variant, present a more severe phenotype compared to deletional HbH diseases. This study focuses on two specific mutations, Haemoglobin Constant Spring (HbCS) and Haemoglobin Quong Sze (HbQS), which have been documented in the Malaysian populace, and devises a rapid, molecular diagnostic approach to identify these variants to aid in better clinical management.
Significant Concept: Molecular Characterization of HbCS and HbQS
The study introduces a combine-amplification refractory mutation system (C-ARMS) protocol alongside duplex polymerase chain reaction (PCR) as a method to accurately detect the mutations responsible for non-deletional HbH disease, particularly HbCS and HbQS. The non-deletional mutations lead to unstable α-globin chains, causing severe phenotypes in affected individuals, including the need for blood transfusions and potential splenomegaly. Family studies highlighted in the research presented two cases: Patient A exhibiting HbCS and Patient B with HbQS. Utilizing C-ARMS allowed for the specific amplification of the mutant genes in a cost-effective manner, signifying its potential as a reliable tool for pre- and postnatal diagnosis.
Conclusion
The findings underscore the necessity for precise detection methods for non-deletional HbH disease due to the associated risks of severe clinical outcomes. The novel C-ARMS methodology represents a significant advancement in the detection of HbCS and HbQS, enabling focused genetic counseling and management strategies for affected families. Given the prevalence of these mutations in the Malaysian Chinese and Malay communities, this study not only contributes valuable insights into local thalassaemia anomalies but also advocates further exploration and integration of molecular techniques in public health initiatives surrounding thalassaemia in Southeast Asia.
Original source:
This page is merely a summary which is automatically generated hence you should visit the source to read the original article which includes the author, publication date, notes and references.
Yong-Chui Wee, Kim-Lian Tan, Kek-Heng Chua, Elizabeth George, Jin-Ai Mary Anne Tan
The Malaysian Journal of Medical Sciences:
(A peer-reviewed, open-access journal)
Full text available for: Molecular characterisation of Haemoglobin Constant Spring and Haemoglobin Quong Sze with a Combine-Amplification Refractory Mutation System
Year: 2009
Copyright (license): CC BY 4.0
Download the PDF file of the original publication
FAQ section (important questions/answers):
What is non-deletional Haemoglobin H disease and its significance?
Non-deletional Haemoglobin H disease is a severe form of thalassaemia caused by mutations like Haemoglobin Constant Spring and Haemoglobin Quong Sze. It often results in severe symptoms, including splenomegaly and frequent blood transfusions, highlighting the need for accurate detection.
How are Haemoglobin Constant Spring and Quong Sze identified?
Detection of Haemoglobin Constant Spring and Quong Sze involves molecular techniques such as Combine-Amplification Refractory Mutation System (C-ARMS) and polymerase chain reaction (PCR) methods, which provide rapid and accurate diagnosis using minimal DNA samples.
What techniques are used for α-thalassaemia genotyping?
Techniques for α-thalassaemia genotyping include duplex polymerase chain reaction (PCR) to detect gene deletions and PCR-restriction fragment length polymorphism analysis for identifying specific mutations like Haemoglobin Constant Spring and Haemoglobin Quong Sze.
What is the importance of this research in Malaysia?
This research presents the first documentation of HbH disease associated with HbQS in Malaysia and provides crucial insights into the prevalence of α-globin mutations, which are critical for patient management and genetic counseling in affected populations.
Glossary definitions and references:
Scientific and Ayurvedic Glossary list for “Characterization of Hb Constant Spring and Quong Sze via CARMS.”. 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) Disease:
In the context of the provided text, 'disease' refers to Haemoglobin H disease, which can be deletional or non-deletional. This disease is relevant due to the severe phenotypes associated with non-deletional mutations, impacting patients in Malaysia and requiring accurate molecular characterisation for diagnosis and treatment.
2) Mutation:
The term 'mutation' in this context primarily relates to genetic changes within the α-globin gene that lead to variations such as Haemoglobin Constant Spring and Haemoglobin Quong Sze. Understanding these mutations is crucial for diagnosis and genetic counselling, particularly in populations where these variants are prevalent.
3) Blood:
Here, 'blood' refers to the sample collected from patients for molecular analysis. Blood tests are essential for diagnosing conditions like Haemoglobin H disease, as they allow for the examination of haematological parameters and the identification of abnormal hemoglobin variants through techniques like PCR and HPLC.
4) Chan (Chaṇ, Chaṅ):
The name 'Chan' appears as part of a reference to established research in Haemoglobin studies. It represents contributions to the understanding and diagnosis of thalassaemia and related disorders, giving context to the ongoing scientific discourse surrounding genetic mutations prevalent in Southeast Asia.
5) Family:
In this study, 'family' refers to the units from which blood samples were taken for analysis. Understanding inheritance patterns of genetic conditions like Haemoglobin H disease within families is essential for predicting and managing thalassaemia in populations, and facilitating genetic counselling.
6) Study (Studying):
The term 'study' encapsulates the research undertaken to assess the presence of non-deletional Haemoglobin H disease and its variants within specific families in Malaysia. This study is crucial for enhancing diagnostic methods and understanding the epidemiology of thalassaemia mutations in Southeast Asia.
7) Malaya (Mālaya):
Malaya refers to the location where the study was conducted, highlighting the geographical relevance of the findings. The significance of non-deletional Haemoglobin H disease and associated mutations such as Hb Constant Spring and Hb Quong Sze is particularly acute within the Malaysian population.
8) Indian:
The term 'Indian' denotes one of the ethnic groups studied within Malaysia, which has specific frequencies of α-thalassaemia mutations. Recognising the ethnic diversity allows for tailored health interventions and considerations in genetic counselling and prenatal diagnosis for populations affected by thalassaemia.
9) Thalassemia:
Thalassemia is a group of genetic blood disorders characterized by the reduced production of hemoglobin. This term is central to the research, emphasizing the importance of detecting various forms, especially in genetically diverse populations, to improve patient management and outcomes.
10) Beta (Bēṭa, Beṭa):
In this context, 'beta' pertains to the beta-globin gene, which is closely related to the research on thalassaemia. The interactions between beta-thalassemia and α-thalassemia variants like Hb H disease warrant attention for comprehensive genetic assessment and clinical management.
11) Nature:
The mention of 'Nature' pertains to a scientific journal, indicating the foundational research on haemoglobin variants. Articles published in reputable journals like Nature significantly contribute to the understanding of genetic mutations, supporting ongoing research into conditions such as thalassemia.
12) Water:
In this context, 'water' refers to the control used in molecular experiments, specifically as a reagent to ensure procedural integrity. Its presence highlights the meticulous nature of laboratory procedures required to achieve accurate DNA amplification and diagnoses in genetic studies.
13) Table:
The term 'table' denotes the structured presentation of data in the study. Tables are crucial for summarizing and comparing haematological data and genetic findings, aiding in the visual interpretation of results related to non-deletional Hb H disease in the studied families.
14) House:
The term 'house' likely refers to the research house or institute, such as the University Malaya Medical Centre, where the study was conducted. Affiliated institutions play a critical role in fostering research and developing diagnostic methodologies in the field of genetics.
15) Eastern India:
Eastern India is referenced in the context of the geographical variation in thalassemia mutations. Recognising regional differences is vital for understanding the epidemiology of genetic disorders and facilitating localized health strategies for prevention and treatment of thalassemia.
16) Performance:
In this context, 'performance' refers to the efficiency and accuracy of the diagnostic methods used, particularly the Combine-ARMS technique. High-performance testing ensures reliable results in identifying genetic variants, essential for effective disease management in thalassaemia.
17) Account:
The term 'account' might refer to the records or descriptions of cases documented in the study. Keeping detailed accounts is critical for understanding patient presentations, allowing for comprehensive data analysis and contributing to the overall knowledge base surrounding thalassaemia.
18) India:
India is mentioned in the context of the broader geographical region where thalassemia is a public health concern. The relevance of investigating genetic disorders such as thalassemia in India emphasizes the necessity of understanding genetic diversity in handling blood disorders.
19) Thong:
The name 'Thong' appears as part of a research reference within the study. Authors and researchers contribute significantly to the scientific community's understanding of genetic diseases; hence, their inclusion is relevant for acknowledging prior work in the field.
20) Death:
In this context, 'death' relates to the severe consequences of untreated non-deletional Haemoglobin H disease, particularly in fetuses and newborns. The potential for neonatal death underlines the urgent need for accurate diagnostic techniques and genetic counselling to manage this condition effectively.
21) Muda (Mudā, Muḍa):
Muda likely refers to an individual or an associated researcher in the presented study. Individuals involved in research contribute to a growing body of knowledge regarding thalassemia, ensuring that data collected support advancements in diagnostics and treatment options.
22) Pung:
The name 'Pung' possibly refers to a contributor or case example within the study. Acknowledging various contributors emphasizes collaborative research efforts essential for understanding and addressing the complexities of thalassaemia and its management across populations.