Natural history of paroxysmal nocturnal hemoglobinuria in adolescents,adults, and children: the Mexican experience
Góngora-Biachi, R.A.; González-Martínez, P.; Sosa-Muñoz, J.; Castro-Sansores, C.; Delgado-Lamas, J.L.; Vázquez-Villegas, V.; Rico-Balzadua, G.; Herrera-Sánchez, P.; Selva-Pallares, J.; González-Llaven, J.
Sangre 42(3): 171-177
1997
ISSN/ISBN: 0036-4355 PMID: 9381252 Document Number: 476484
To confirm the conventional techniques for studying structural haemoglobinopathies and to show off the simplicity and efficacy of new methods based on the study of DNA. Peripheral blood samples of 17 patients with 5 haemoglobin variants detected by conventional and shown off by means of sequencing according to Sanger's method, plus PCR-RFLP, were studied. Five structural haemoglobin variants were found, which distributed as follows: 7 cases of Hb Complutense (beta 127 Gln-->Glu), 1 Hb D-Punjab (beta 121 Glu-->Gln), 3 Hb Hofu (beta 126 Val-->Glu), 3 Hb J-Baltimore (beta 16 Gly-->Asp) and 3 Hb San Diego (beta 109 Val-->Met). These results allow us to stress the simplicity and usefulness of DNA analysis (sequencing , amplification and enzymatic digestion) to identify haemoglobin variants as opposed to laborious analysis of the primary structure by means of HPLC peptide separation.