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Laboratory Approach to Hemolytic Anemia.
Manu Jamwal1, Prashant Sharma1, Reena Das2
1Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, 160012, India.
Indian Journal of Pediatrics
|December 12, 2019
Summary
Diagnosing hemolytic anemias involves a step-wise laboratory approach. Genetic testing, including next-generation sequencing, is crucial for heterogeneous cases where common causes are excluded.
Area of Science:
- Hematology
- Genetics
- Molecular Biology
Background:
- Hemolytic anemias are diverse blood disorders marked by reduced red blood cell lifespan.
- Clinical presentation ranges from severe anemia to compensated hemolysis with reticulocytosis.
Purpose of the Study:
- To outline the diagnostic workup for hemolytic anemias.
- To highlight the role of genetic testing in identifying underlying causes.
Main Methods:
- Systematic laboratory testing including red blood cell morphology and hematological indices.
- Genetic analysis, including Sanger sequencing and next-generation sequencing (NGS).
Main Results:
- Conventional tests are the initial step in diagnosing hemolytic anemias.
- Genetic testing, particularly NGS, is increasingly effective for complex and heterogeneous cases.
Conclusions:
- A methodical diagnostic approach is essential for hemolytic anemias.
- Next-generation sequencing offers an efficient method for etiological decipherment in complex hemolytic anemias.
Keywords:
HemoglobinopathyHemolytic anemiaLaboratory investigationsRed cell disordersRed cell enzyme deficiencies
