IntroductionCongenital Erythrocytosis can be classified as primary, when the defect is intrinsic to the RBC progenitors and independent of the serum erythropoietin (Epo) concentration, or secondary, when the erythrocytosis is the result of an up-regulation of Epo production. Primary erythrocytosis is associated with mutations in the EPOR gene, secondary congenital erythrocytosis can de due to mutations that stabilize the hemoglobin in the oxygenated form or to mutations in the genes that control the transcriptional activation of the EPO gene -VHL, EGLN1, EPAS1. Material and MethodsWith the main objective of describing the etiology and molecular basis of congenital erythrocytosis we have studied 70 consecutive unrelated patients presenting with idiopathic erythrocytosis from our hematology clinic or referred from other centers. According to a study algorithm we have sequenced all the genes described as associated with congenital erythrocytosis. Results and DiscussionErythrocytosis molecular etiology was identify in 25 (36%) of the 70 subjects. High-affinity Hb variants were the most common cause, present in 20% of the cases. New mutations were identified in the JAK2, EPOR, VHL and EGLN1 genes. Conclusions High affinity hemoglobin variants are a very rare cause of secondary congenital erythrocytosis, but it seems likely that their incidence may be underestimated. Our experience shows that in erythrocytosis with a dominant inheritance and normal or inappropriate high Epo levels, the HBB and HBA genes should be the first to be studied. In spite of the seven genes known to be involved in congenital erythrocytosis, the majority of the cases have unknown etiology.

SummaryThe Azores, a Portuguese archipelago located in the north Atlantic Ocean, had no native population when the Portuguese first arrived in the 15th century. The islands were populated mainly by the Portuguese, but Jews, Moorish prisoners, African slaves, Flemish, French and Spaniards also contributed to the initial settlement. To understand the paternal origins and diversity of the extant Azorean population, we typed genomic DNA samples from 172 individuals using a combination of 10 Y-biallelic markers (YAP, SRY-1532, SRY-2627, 92R7, M9, sY81, Tat, SRY-8299, 12f2 and LLY22g) and the following Y-chromosomal STR systems: DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393 and DYS385. We identified nine different haplogroups, most of which are frequent in Europe. Haplogroup J * is the second most frequent in the Azores (13.4%), but it is modestly represented in mainland Portugal (6.8%). The other non-European haplogroups, N3 and E3a, which are prevalent in Asia and sub-Saharan Africa, respectively, have been found in the Azores (0.6% and 1.2%, respectively) but not in mainland Portugal. Microsatellite data indicate that the mean gene diversity (D) value for all the loci analysed in our sample set is 0.590, while haplotype diversity is 0.9994. Taken together, our analysis suggests that the current paternal pool of the Azorean population is, to a great extent, of Portuguese descent with significant contributions from people with other genetic backgrounds.

SummaryThe Azores, a Portuguese archipelago located in the north Atlantic Ocean, had no native population when the Portuguese first arrived in the 15th century. The islands were populated mainly by the Portuguese, but Jews, Moorish prisoners, African slaves, Flemish, French and Spaniards also contributed to the initial settlement. To understand the paternal origins and diversity of the extant Azorean population, we typed genomic DNA samples from 172 individuals using a combination of 10 Y-biallelic markers (YAP, SRY-1532, SRY-2627, 92R7, M9, sY81, Tat, SRY-8299, 12f2 and LLY22g) and the following Y-chromosomal STR systems: DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393 and DYS385. We identified nine different haplogroups, most of which are frequent in Europe. Haplogroup J * is the second most frequent in the Azores (13.4%), but it is modestly represented in mainland Portugal (6.8%). The other non-European haplogroups, N3 and E3a, which are prevalent in Asia and sub-Saharan Africa, respectively, have been found in the Azores (0.6% and 1.2%, respectively) but not in mainland Portugal. Microsatellite data indicate that the mean gene diversity (D) value for all the loci analysed in our sample set is 0.590, while haplotype diversity is 0.9994. Taken together, our analysis suggests that the current paternal pool of the Azorean population is, to a great extent, of Portuguese descent with significant contributions from people with other genetic backgrounds.

The prevalence of FM observed in SLE patients is 12%. The presence of FM adversely affects the quality of life of patients with SLE.

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