Beta-thalassemia laboratory findings
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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
The initial work-up for diagnosis of beta-thalassemia includes complete blood count and hemoglobin electrophoresis which may indicate low hemoglobin level, MCV, MCH and high hemoglobin F and A2. For advanced assessment, there are other methods such as: high-performance liquid chromatography (HPLC), capillary zone electrophoresis (CE) systems, chorionic villus sample, amniotic fluid evaluation, DNA analysis, PCR and genome sequencing.
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[1]:
- 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 individual, hemoglobin A (HbA) should be about 95-98% of the total hemoglobin and the rest would be hemoglobin A2 and F. Hemoglobin F is increased in beta-thalassemia.
There are other types of laboratory tests which are more precise and advanced[2]:
- Invasive methods such as chorionic villus sample and amniotic fluid evaluation would be needed for mothers carrying the suspected fetus[3].
- 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.
Peripheral smear
References
- ↑ 1.0 1.1 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). - ↑ Lin M, Zhu JJ, Wang Q, Xie LX, Lu M, Wang JL, Wang CF, Zhong TY, Zheng L, Pan MC, Wu JR, Wen YF, Liu GR, Zhan XF, Lin F, Yang LY (February 2012). "Development and evaluation of a reverse dot blot assay for the simultaneous detection of common alpha and beta thalassemia in Chinese". Blood Cells Mol Dis. 48 (2): 86–90. doi:10.1016/j.bcmd.2011.12.001. PMID 22197394.