OBJECTIVES: Variations in hemoglobin structure as well as number of globin chains give rise to a wide spectrum of heritable disorders. As such, their detection is significant from epidemiological perspective, especially in India in which there is a large multi-cultural population with distinct geographic distribution. Although a few variants present severe clinical symptoms in homozygotes, co-existence of heterozygous mutants can lead to deleterious conditions. The aim of the present study is to provide an overview on the prevalence of different hemoglobinopathies among Asian Indians. DESIGN AND METHODS: A large cohort of samples from all regions of India was analyzed by high performance liquid chromatography (HPLC) (n=25,297) and capillary electrophoresis (CE) (n=21,219). RESULTS: Using HPLC, 8029 hemoglobin variants were detected. HbS trait was detected at the highest frequency (33.03%), principally from the Chattisgarh region. Using CE, 6524 variants were detected. HbS trait, again, represented the most common mutation (25.67%). A total of 40 variants including compound heterozygous cases were detected by HPLC and CE. CONCLUSIONS: Our report is one of the few to analyze a large cohort and report on the spectrum of hemoglobin variants in India.
OBJECTIVES: Variations in hemoglobin structure as well as number of globin chains give rise to a wide spectrum of heritable disorders. As such, their detection is significant from epidemiological perspective, especially in India in which there is a large multi-cultural population with distinct geographic distribution. Although a few variants present severe clinical symptoms in homozygotes, co-existence of heterozygous mutants can lead to deleterious conditions. The aim of the present study is to provide an overview on the prevalence of different hemoglobinopathies among Asian Indians. DESIGN AND METHODS: A large cohort of samples from all regions of India was analyzed by high performance liquid chromatography (HPLC) (n=25,297) and capillary electrophoresis (CE) (n=21,219). RESULTS: Using HPLC, 8029 hemoglobin variants were detected. HbS trait was detected at the highest frequency (33.03%), principally from the Chattisgarh region. Using CE, 6524 variants were detected. HbS trait, again, represented the most common mutation (25.67%). A total of 40 variants including compound heterozygous cases were detected by HPLC and CE. CONCLUSIONS: Our report is one of the few to analyze a large cohort and report on the spectrum of hemoglobin variants in India.
Authors: Flávia Mylla de Sousa Reis; Renata Rodrigues de Oliveira Castelo Branco; Amanda Mota Conceição; Letícia Paula Benvindo Trajano; José Felipe Pinheiro do Nascimento Vieira; Pablo Ricardo Barbosa Ferreira; Éverton José Ferreira de Araújo Journal: Einstein (Sao Paulo) Date: 2018-06-07