Beta-thalassemia laboratory findings: Difference between revisions
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==Laboratory findings== | ==Laboratory findings== | ||
Various laboratory procedures are needed to diagnose thalassemia and abnormal hemoglobin levels including: | Various laboratory procedures are needed to diagnose thalassemia and abnormal hemoglobin levels including<ref name="pmid8076405">{{cite journal |vauthors=Dozy AM, Kan YW |title=Characterization of beta-thalassemia mutations by denaturing gradient gel electrophoresis: patterns in the Mediterranean mutations |journal=Clin Genet |volume=45 |issue=5 |pages=221–7 |date=May 1994 |pmid=8076405 |doi=10.1111/j.1399-0004.1994.tb04145.x |url=}}</ref>: | ||
*The automatic hematology analyzer evaluation of red blood cell indices | *The automatic hematology analyzer evaluation of red blood cell indices | ||
*Hemoglobin analysis | *Hemoglobin analysis | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Maryam Hadipour, M.D.[2]
Overview
Laboratory findings
Various laboratory procedures are needed to diagnose thalassemia and abnormal hemoglobin levels including[1]:
- The automatic hematology analyzer evaluation of red blood cell indices
- Hemoglobin analysis
- Quantification of hemoglobin A2 and hemoglobin F
The most popular laboratory methods for diagnosis of beta-thalassemia are:
- CBC: CBC reveals severe microcytic hypochromic anemia, with decreased hemoglobin, mean corpuscular volume (MCV), and mean corpuscular hemoglobin (MCH).
- Hemoglobin electrophoresis: In the results of hemoglobin electrophoresis of a normal person, hemoglobin A (HbA) should be about 95-98% of the total hemoglobin and the rest would be hemoglobin A2 and F. Hemoglobin F gets increased in beta-thalassemia.
There are other types of laboratory tests which are more precise and advanced[2]:
- Thalassemic disorders and their carriers can be distinguished using high-performance liquid chromatography (HPLC) and capillary zone electrophoresis (CE) systems. It has been frequently employed to take the role of the manual method. These devices provide accurate, repeatable qualitative and quantitative evaluations of hemoglobin component data. They have made it possible for us to diagnose thalassemia both prenatally and postnatally quickly.
- DNA analysis may be used to identify specific thalassemia mutations, and several methods have been developed.
- Real-time polymerase chain reaction (PCR) can also be used to genotype thalassemia, followed by melting curve analysis.
- DNA sequencing will be used when a mutation cannot be identified using a previous molecular analysis approach.
- In the most recent years, thalassemia diagnosis has also benefited from genome sequencing by NGS.
- Invasive methods such as chorionic villus sample and amniotic fluid evaluation would be needed for mothers carrying the suspected fetus.
References
- ↑ Dozy AM, Kan YW (May 1994). "Characterization of beta-thalassemia mutations by denaturing gradient gel electrophoresis: patterns in the Mediterranean mutations". Clin Genet. 45 (5): 221–7. doi:10.1111/j.1399-0004.1994.tb04145.x. PMID 8076405.
- ↑ Munkongdee T, Chen P, Winichagoon P, Fucharoen S, Paiboonsukwong K (2020). "Update in Laboratory Diagnosis of Thalassemia". Front Mol Biosci. 7: 74. doi:10.3389/fmolb.2020.00074. PMC 7326097 Check
|pmc=value (help). PMID 32671092 Check|pmid=value (help).