Related Experiment Video
Updated: Jan 20, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Recent advances in screening and diagnosis of hemoglobinopathy
Kanjaksha Ghosh1, Kinjalka Ghosh2, Reepa Agrawal3
1Department of Hematogenetics, National Institute of Immunohaematology, Mumbai, India.
Insights
Screening for hemoglobinopathies, inherited blood disorders, requires a blend of traditional and advanced diagnostic techniques. Optimizing these methods is key for effective global management and prevention strategies.
Area of Science:
- Medical Genetics
- Hematology
Background:
- Hemoglobinopathies represent a significant global health burden, causing considerable mortality and morbidity.
- Effective diagnosis and management rely on the appropriate use of screening and diagnostic tools.
Purpose of the Study:
- To review clinical presentations of hemoglobinopathies.
- To summarize existing and emerging techniques for hemoglobinopathy detection and screening.
- To discuss the importance of prevention through newborn screening, antenatal diagnosis, and point-of-care tests.
Main Methods:
- Comprehensive literature search (1980-2018) using PubMed and author's research.
- Review of various diagnostic modalities including molecular and protein-based techniques.
- Inclusion of screening methods like newborn screening, antenatal diagnosis, and point-of-care tests.
Main Results:
- A hierarchical approach combining established and novel techniques is recommended for optimal screening.
- Techniques range from point-of-care tests and HPLC to advanced molecular diagnostics and mass spectrometry.
- The choice of technique should be situation-dependent and resource-aware.
Conclusions:
- A tailored, hierarchical screening strategy integrating diverse techniques is crucial for hemoglobinopathy management.
- Countries must adapt screening protocols based on local disease prevalence and available resources.
- Continuous optimization of diagnostic and screening methods is essential for controlling hemoglobinopathies worldwide.
Abstract:
Introduction: Hemoglobinopathies are important causes of inherited disorders with substantial mortality and morbidity across the world. Therefore, proper utilization of available screening and diagnostic techniques are important for its diagnosis and management.Areas covered: In this review, the authors attempt to summarize clinical presentations, give a brief account of existing techniques, and discuss evolving and advanced techniques for detection and screening of the condition. As prevention of the disease condition is an important community measure to control the disease, techniques involving newborn screening, antenatal diagnosis, and point of care tests have been described in addition to more advanced molecular and protein diagnostics. The literature search in this area is covered between 1980 and 2018 with PubMed as the main source along with authors' own research in this area.Expert opinion: Screening and detection of hemoglobinopathy is best accomplished by a hierarchical approach with the optimum blend of old and newer techniques. Starting with point of care techniques through the commonly used HPLC and high voltage capillary electrophoresis, or modern and high throughput molecular biology and mass spectroscopic techniques can be used depending on specific situations. Every country needs to optimize its techniques depending on the frequency of the problem and available resources.
Related Concept Videos
01:22Nursing Diagnosis
The nursing diagnosis focuses on evidence-based...
00:56Extraction: Advanced Methods
01:10Documentation of Nursing Diagnosis
In some settings, data-driven computerized decision support systems are in place, allowing for more accurate nursing diagnoses. The database within one of these systems includes diagnostic labels defining characteristics, activities, and indicators for nursing. A nurse enters...
02:22Overview of Advanced Functional Groups
Functional groups are groups of atoms with specific chemical properties that occur within organic molecules and are sometimes denoted as “R”. Functional groups can “functionalize” a compound by enabling it to adopt different physical and chemical properties.
Types of Advanced Functional Groups
The table below summarizes some of the major functional groups in organic chemistry.
01:26Formulating and Validating Nursing Diagnosis I
There are thirteen domains...
01:15Diabetes: Symptoms, Diagnosis, and Complications