Related Experiment Video
Updated: Jun 24, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
Published on: June 23, 2012
An algorithm to aid in the investigation of thalassemia trait in multicultural populations
1University Health Network/The Princess Margaret Hospital, Toronto, Ontario, Canada.
Context:
The differentiation between iron deficiency and a thalassemia syndrome is an important consideration in the investigation of microcytic anemia.
Objective:
An established statistical method was used to demonstrate the importance of considering ethnic background in combination with mean cell volume (MCV) in the investigation of beta-thalassemia trait in a multicultural urban population.
Design:
Posttest probabilities for beta-thalassemia trait were calculated using likelihood ratios for various microcytic MCV ranges in conjunction with published pretest probabilities for beta-thalassemia trait based on ethnic background.
Setting:
Regional hemoglobinopathy laboratory, St Joseph's Hospital, Hamilton, Ontario, Canada.
Patients:
Patient data were derived from a previously published study. The original study cohort consisted of 789 patients aged 18 years or older who had an MCV less than 80 fL and were referred for routine complete blood count during a 6-month period.
Main Outcome Measures:
Posttest probabilities.
Results:
Simplified tables for the determination of posttest probabilities for beta-thalassemia trait in individual patients based on ethnic background and MCV are provided. An algorithm to assist in determining when thalassemia investigations are indicated is presented.
Conclusions:
A high index of suspicion based on ethnic background and low MCV can provide increased sensitivity and specificity for the detection of thalassemia trait in centers with multicultural populations similar to the study population.
More Related Videos
10:27Methods to Increase the Sensitivity of High Resolution Melting Single Nucleotide Polymorphism Genotyping in Malaria
Published on: November 10, 2015
11:59Detection of Residual Donor Erythroid Progenitor Cells after Hematopoietic Stem Cell Transplantation for Patients with Hemoglobinopathies
Published on: September 6, 2017
Related Concept Videos
Pedigree Analysis
Multiple Allele Traits
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Test for Homogeneity