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Hemoglobin E syndromes in Pakistani population.

Bushra Moiz¹, Mashhooda Rasool Hashmi, Amna Nasir

¹Department of Pathology and Microbiology, The Aga Khan University Hospital, Stadium road, Karachi 74800, Pakistan. bushra.moiz@aku.edu.

BMC Blood Disorders

|March 27, 2012

Summary

This summary is machine-generated.

Hemoglobin E (HbE) disorders are prevalent in Pakistan, with HbEA and HbE/β-thalassemia being the most common. Chromatography and RFLP-PCR effectively diagnose HbE and its various phenotypes.

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Area of Science:

Hematology
Genetics
Molecular Biology

Background:

Hemoglobin E (HbE) is a globally significant hemoglobin variant.
Pakistan has reported numerous hemoglobinopathies, but a comprehensive description of HbE syndromes was lacking.
This study aimed to detail HbE disorders in Pakistan using hematological and chromatographic data, with molecular characterization as a sub-goal.

Purpose of the Study:

To describe the prevalence and types of Hemoglobin E disorders in Pakistan.
To characterize Hemoglobin E at the molecular level.
To evaluate the utility of chromatography and RFLP-PCR in diagnosing HbE syndromes.

Main Methods:

A prospective, year-long hospital-based study analyzing 11,403 blood samples.
Automated hematology analyzers and Bio-Rad beta thalassemia short program chromatography were used for complete blood counts and hemoglobin variant analysis.
Six samples were selected for molecular characterization of HbE using RFLP-PCR with the MnlI restriction enzyme.

Main Results:

Hemoglobin E was detected in 0.36% (41/11,403) of samples.
Identified HbE syndromes included HbEA (49%), HbE/β-thalassemia (34%), HbEE (15%), and HbE/HbS (2%).
Compound heterozygosity for HbE and beta-thalassemia presented the most severe phenotype; RFLP-PCR successfully characterized HbE at the molecular level.

Conclusions:

HbEA and HbE/β-thalassemia are the most common Hemoglobin E phenotypes in Pakistan.
Chromatography is effective for identifying HbE and characterizing its phenotypes, including compound heterozygosity.
RFLP-PCR provides definitive molecular diagnosis for Hemoglobin E.