Our study underscores the importance of JAK2, MPL and CALR genotyping for accurate diagnosis of patients with BCR-ABL1-negative MPN.

A new sickling hemoglobin (Hb) detected in an Argentinean family from San Martín, Buenos Aires, Argentina, is hereby described. Two mutations were identified on the same β-globin gene resulting in a new variant named Hb San Martin. One mutation was found on exon 1, corresponding to Hb S [β6Glu→Val, GAG>GTG] and the second one on exon 3 at β105(G7)Leu→Pro, CTC>CCC. The replacement of leucine by proline will likely impair the structure breaking helix G and causing instability of the molecule and the clinical manifestations typical of unstable Hbs. The mutation at β105 seemed to be a de novo one in our patients, arising on a previously mutated gene, due to the fact that Hb S is the most frequent structural variant.

The present work describes modification of a widely used salting‐out procedure to rapidly extract DNA suitable for PCR, using the ARMS method to amplify a target sequence in the β‐globin gene. The salting‐out DNA extraction procedure did not completely remove or decrease the presence of inhibitors to PCR in a considerable number of cord blood samples. By introducing a simple phenol/chloroform step, before ethanol precipitation of the nucleic acid, to certain samples, we were able to eliminate or substantially reduce the presence of inhibitors to PCR without having to re‐extract the samples. J. Clin. Lab. Anal. 14:280–283, 2000. © 2000 Wiley‐Liss, Inc.

Prevalence of alpha gene triplication or deletion in beta-thalassemia carriers was studied in 109 unrelated individuals in Rosario, Argentina. In different populations -alpha(3.7) allele presents a higher prevalence than alphaalphaalpha(anti3.7); thus, alpha-thalassemia associated with beta-thalassemia is more frequently observed. Nevertheless, this event was detected in only one case (0.9%), while the association with alpha triplication was present in two subjects (1.8%).