Beta-thalassemia laboratory findings

Beta-thalassemia Microchapters
Home
Patient Information
Overview
Historical Perspective
Classification
Pathophysiology
Differentiating Beta-thalassemia from other Diseases
Epidemiology and Demographics
Risk Factors
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms
Physical Examination
Laboratory Findings
X Ray
CT
MRI
Ultrasound
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
Beta-thalassemia laboratory findings On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Beta-thalassemia laboratory findings All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Beta-thalassemia laboratory findings
CDC on Beta-thalassemia laboratory findings
Beta-thalassemia laboratory findings in the news
Blogs on Beta-thalassemia laboratory findings
Directions to Hospitals Treating Beta-thalassemia
Risk calculators and risk factors for Beta-thalassemia laboratory findings

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Maryam Hadipour, M.D.[2]

Laboratory findings

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

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:

• 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.

References

Template:WikiDoc Sources