Beta-thalassemia laboratory findings: Difference between revisions
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==Laboratory findings== | ==Laboratory findings== | ||
*Various laboratory procedures | 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. | |||
*Various laboratory procedures are needed to diagnose thalassemia and abnormal hemoglobin levels including: | |||
**The automatic hematology analyzer evaluation of red blood cell indices | **The automatic hematology analyzer evaluation of red blood cell indices | ||
**Hemoglobin analysis | **Hemoglobin analysis | ||
**Quantification of hemoglobin A2 and hemoglobin F | **Quantification of hemoglobin A2 and hemoglobin F | ||
*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. | *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. | *DNA analysis may be used to identify specific thalassemia mutations, and several methods have been developed. | ||
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*DNA sequencing will be used when a mutation cannot be identified using a previous molecular analysis approach. | *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. | *In the most recent years, thalassemia diagnosis has also benefited from genome sequencing by NGS. | ||
==References== | ==References== | ||
Revision as of 23:35, 16 August 2023
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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
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.
- Various laboratory procedures are needed to diagnose thalassemia and abnormal hemoglobin levels including:
- The automatic hematology analyzer evaluation of red blood cell indices
- Hemoglobin analysis
- Quantification of hemoglobin A2 and hemoglobin F
- 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.