Abstract
Background: Abnormalities of hemoglobin synthesis are among the most common inherited disorders. Cation exchange high-performance liquid chromatography offers a reliable tool for early, accurate detection thereby aiding in the prevention and management of thalassemia major and various hemoglobinopathies. 
 Materials and methods: This was a retrospective study carried out in the Department of Pathology, GCSMC Hospital and Research center, Ahmedabad over six years from August 2013 to August 2019. 500 cases were studied for the identification of various hemoglobin disorders in patients referred for screening and detection of hemoglobinopathies.Results: Abnormal hemoglobin fractions were seen in 104/500 (20.8%) cases. The β thalassemia trait was the predominant abnormality with a total of 69 cases (66.3%). β thalassemia major, β thalassemia intermedia, Hb D Punjab- β thalassemia, Acquired Hb F and Hereditary persistence of fetal hemoglobin/δβ thalassemia trait was found in 1 case (0.96%) each. Sickle cell heterozygous was found in 9 cases (8.6%), Sickle cell homozygous in 5 cases (4.8%), and Sickle-ß thalassemia in 6 cases (5.8%). Other variants detected included Hb Q India heterozygous and Hb D Punjab heterozygous in 3 cases (2.9%) each and 2 cases (1.9%) of Hb E heterozygous and Hb J each. 
 Conclusions: Cation exchange high-performance liquid chromatography is an ideal and widely used methodology for routine clinical laboratory because of the simplicity of the automated system. The majority of the abnormal cases are diagnosed with it except a few inconclusive cases for which molecular and genetic studies are required.
Highlights
Abnormalities of hemoglobin (Hb) synthesis are among the most common inherited disorders of man. They are known as hemoglobinopathies and are classified as quantitative which includes thalassemias and qualitative which includes HbS, HbD, HbE, HbQ India, etc.[1]
Cation exchange High-Performance Liquid Chromatography (CE-HPLC) in Hemoglobinopathies occurs in 1–15% of persons of Mediterranean origin. β thalassemia has a 10–15% incidence in individuals from the Mediterranean and Southeast Asia.[2]
Hemoglobin fraction analysis by CE-HPLC is a highly reproducible system making it an excellent technology to screen for Hb variants and thalassaemias, as it has the convenience of quantifying HbF and HbA2 along with hemoglobin variant screening in a single run
Summary
Abnormalities of hemoglobin (Hb) synthesis are among the most common inherited disorders of man. They are known as hemoglobinopathies and are classified as quantitative (due to reduced synthesis of globin polypeptide chains) which includes thalassemias and qualitative (due to structural alterations in globin polypeptide chains) which includes HbS, HbD, HbE, HbQ India, etc.[1]. Β thalassemia has a 10–15% incidence in individuals from the Mediterranean and Southeast Asia.[2]. These disorders can be heterozygous or homozygous. Various heterozygous states can become homozygous in newborns resulting in failure to thrive or serious morbidity. Abnormalities of hemoglobin synthesis are among the most common inherited disorders. Cation exchange high-performance liquid chromatography offers a reliable tool for early, accurate detection thereby aiding in the prevention and management of thalassemia major and various hemoglobinopathies
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
