CONTEXT:Hemoglobinopathies constitute the world's most common genetically inherited red blood cell disorder. Screening and accurate identification of hemoglobin (Hb) variants have become increasingly important in antenatal diagnosis and prevention of Hb disorders.AIM:The aim of this study was to screen and identify Hb fractions prevalent in the Central Reference Laboratory of India.MATERIALS AND METHODS:A total of 65,779 cases were screened for hemoglobinopathies on the bio-rad variant high-performance liquid chromatography (HPLC) system by beta-thalassemia short program. The retention times, proportion of the hemoglobin (%) and the peak characteristics for all hemoglobin fractions were recorded. Molecular analysis of the beta-globin gene was carried out by DNA sequencing on eight cases.RESULTS:Total number of abnormal Hb fractions on cation exchange-HPLC (CE-HPLC) was seen in 12,131 (18.44%) cases. Beta-thalassemia trait was the predominant genetic Hb disorder accounting for 7377 cases (11.21%) of the total cases. This was followed by sickle cell trait (2.01%), sickle cell disease (1.59%), beta-thalassemia syndrome (0.80%), HbE trait (0.79%), and borderline HbA2 (0.51%). Molecular characterization of eight rare cases of hemoglobin variants by beta-globin gene sequencing identified three cases of Hb Beth Israel, two cases of Hb Hofu trait, and one case each of Hb J Cambridge, Hb Mizunami, and Hb Sherwood Forest.CONCLUSION:Superior resolution, rapid assay time, and accurate quantification make CE-HPLC suitable for the routine investigation of hemoglobinopathies.
Our study on pan-Indian cases is one of the largest studies reported so far in India and focuses on the most accurate and comprehensive molecular diagnostic evaluation of HD.
Triploidy is a complete extra set of chromosomes. In the current case report, we present the case of a 29-year-old pregnant female who was referred to Department of Genetics, Metropolis Healthcare Ltd, Mumbai. Real-time sonography of the gravid uterus was done using a 3C RS multi-frequency probe. Placenta was observed to be posterior. The findings were suggestive of a single viable foetus with an average gestational age of 14.6 weeks at 14-15 weeks of pregnancy and only mild placental thickening at 17-18 weeks of pregnancy was detected on Ultrasound at the time of Amniocentesis. The fetal chromosomal study on amniotic fluid by Fluoroscence insitu hybridization (FISH) revealed trisomy status for chromosome 13, 18, 21, X and Y in 100% of the cells analysed and the fetal karyotype revealed a presence of extra set of chromosomes (69) in all the analysed cells. Parental blood karyotype was done for checking cytogenetic abnormality or variations. FISH studies with POC specimen revealed Trisomy status for chromosomes 13, 18, 21 and presence of extra Sex chromosome (XXY) in all cells analysed.
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