Chromosomal aberrations in 2000 couples of Indian ethnicity with reproductive failure.

Constitutional chromosomal aberrations contribute to infertility and repeated miscarriage leading to reproductive failure in couples. These aberrations may show no obvious clinical manifestations and remain undetected across multiple generations. However, infertility or recurrent spontaneous pregnancy loss, and/or genotypic/phenotypic aberrations may be manifested in the progeny during gametogenesis. The current study was a retrospective analysis to examine the chromosomal aberrations and prevalence in 2000 couples of Indian ethnicity with reproductive failure. Cytogenetic analysis via conventional G-band karyotyping analysis was carried out on phytohaemagglutinin stimulated peripheral blood lymphocytes, cultured in RPMI1640 medium. The chromosomes were enumerated as per International System for Human Cytogenetic Nomenclature at 500-550 band resolution, and recorded in the screening sheets. Chromosomal aberrations were detected in a total of 110 (2.78%) couples, with structural chromosomal aberrations in 88 cases including reciprocal translocations in 56 cases, Robertsonian translocations in 16 cases, inversions in eight cases, deletions in three cases, derivative chromosomes in five cases and numerical chromosome aberrations in 23 cases. The study emphasizes the importance of cytogenetic work up in both the partners associated with a history of reproductive failure. Genetic counselling with an option of prenatal diagnosis should be offered to couples with chromosomal aberrations.

Detection of haemoglobin variants for the diagnosis of beta thalassaemia & other haemoglobinopathies using anion exchange high performance liquid chromatography.

We describe the precise identification, separation and quantitation of several haemoglobin (Hb) variants such as Hbs A2, A, F, S, E, J, H, D-Punjab and Q-India in untransfused patients with beta thalassaemia and other haemoglobinopathies prevalent in the Indian population using whole blood (5 microliters), red cell lysates (2 microliters) or dried blood specimens on filter paper, using a conventional anion exchange high performance liquid chromatography (AX-HPLC) system. Samples were simultaneously studied for the presence of haemoglobin variants by alkaline electrophoresis. The problems in analysing rare variants and separating the closely migrating variants, encountered in the conventional methods could be resolved using the HPLC technique.