Globally, as per The World Health Organization, seven percent of
the global population are carriers of hemoglobin disorders, with thalassemia
and hemoglobinopathies being the most common genetic disorders. Thalassemia and
other hemoglobinopathies are also one of the major public health problems in
India. As initial screening methods, Red Blood Cell (RBC) indices such as total
RBC count, Mean Cell Volume (MCV), Mean Cell Hemoglobin (MCH), Mean Corpuscular
Hemoglobin Concentration (MCHC), and Red Cell Distribution Width (RDW) are
valuable. High-Performance Liquid Chromatography (HPLC) has emerged as a
powerful and excellent tool for the direct identification of different
hemoglobin variants.
Aim: This study aims to utilize HPLC for identifying various
hemoglobinopathies and to analyze the distribution of red blood cell (RBC)
indices in different Hemoglobinopathies to assess their significance as
screening tests.
Materials and Methods: A retrospective study was conducted on
73,333 cases from January 2017 to October 2022. EDTA samples were analyzed on
an automated hematology analyzer to determine RBC indices before performing
HPLC. The Bio-Rad Variant II CE-HPLC system with the Variant II-Thalassemia
short program (Bio-Rad Laboratories) was used to determine different fractions
of hemoglobin. Descriptive analysis was used to obtain the frequency and
percentage of Hemoglobinopathies in this given Indian population. A two-tailed
p-value of <0.05 was considered to be statistically significant.
Results: 6,242 (8.52%) cases of abnormal hemoglobin variants were
recorded. Beta Thalassemia trait (5.59%) was the most prevalent hemoglobin
fraction, followed by HbD Punjab heterozygous, HbE heterozygous, and Sickle
cell heterozygous. RBC indices showed statistically significant differences
between subjects with normal hemoglobin and those with hemoglobinopathies
(p<0.0001). Significant differences in RBC indices were also found between
the Beta Thalassemia trait and normal hemoglobin subjects (p<0.0001). The
mean RDW value was markedly increased in both Thalassemia syndrome (36.06±6.79)
and Hb-E Beta Thalassemia (32.49±6.57). The mean total RBC count was highest in
Beta Thalassemia trait (5.07±0.90) and lowest in Beta Thalassemia syndrome
(2.71±1.10).
Conclusion: RBC indices can be effectively used to screen for
Thalassemia and other hemoglobinopathies as a supportive test for
High-Performance Liquid Chromatography (HPLC).
Author(s)
Details
Chakshu
Bansal
Reference Lab Delhi, Metropolis Healthcare Ltd., India.
Geeta
Chopra
Metropolis Healthcare Ltd., India.
Kush
Kumar Singh
Reference Lab Delhi, Metropolis Healthcare Ltd., India.
Ranveer
Singh
Reference Lab Delhi, Metropolis Healthcare Ltd., India.
Raj
Jatale
Metropolis Healthcare Ltd., India.
Shibani
Ramchandran
Metropolis Healthcare Ltd., India.
Please see the book here:- https://doi.org/10.9734/bpi/mria/v11/1611
