Differences in the distribution of hemoglobin variants according to the geographic regions in a Colombian population

ABSTRACT Introduction: Colombia has been subject to intense genetic and cultural currents due to its geographical location. Hemoglobinopathies are the most common recessive diseases found worldwide and represent an important public health problem, according to the region and ancestry of each country. Objectives: To evaluate the frequency of hemoglobin variants according to the geographical region in a population group adjusted to sex and age in Colombia. Methods: This was a descriptive retrospective study of hemoglobin variants performed by electrophoresis in patients treated at and/or referred to specialized care institutions in Bogota, Colombia between January 2009 and December 2020. Results: A total of 2,224 results were analyzed, 48.4% male and 51.5% female; 63.3% of patients were without alterations, 14.3% presented with thalassemia, 17.3%, HbS, 2.3%, HbS/C, 1.8%, HbC, 0.5%, HbE and 0.5% persistent HbF, with HbS being more prevalent in males (p = 0.005). When assessing the geographical regions of Colombia, a higher prevalence of HbS was found in the Pacific (p = 0.005) and Caribbean regions, while Thalassemia and HbS were more prevalent in the Andean and Orinoquia regions, and it was rare to find any hemoglobinopathies (p = 0.0001) in the Amazonian region. Conclusions: The main hemoglobinopathies found in Colombia are HbS, predominantly in males, and Thalassemia. The distribution of hemoglobinopathies in different geographical regions of Colombia is influenced by ancestry.

Necrosis dérmica como primera manifestación del síndrome de anticuerpos antifosfolípido / Dermal necrosis as the first manifestation of anti-phospholipid antibody syndrome

Resumen El síndrome de anticuerpos antifosfolípidos es una condición de reciente descripción, cuyo diagnóstico se basa en la presencia de eventos trombóticos sin predisposición previa, con positividad de anticuerpos antifosfolípidos. Su presentación clínica incluye gran variedad de patrones, algunos de ellos no incluidos dentro de los criterios clínicos de diagnóstico, pero que deben ser conocidos. El compromiso dérmico es usual como livedo, sin embargo, la necrosis dérmica no es usual. Se presenta un caso de síndrome de anticuerpos antifosfolípidos con necrosis dérmica como manifestación primaria de la enfermedad.

Abstract Antiphospholipid antibodies syndrome is a recently described condition. The diagnosis of this condition is based on the presence of thrombotic events without previous predisposition and the positivity of anti-phospholipid antibodies. Its clinical presentation includes a variety of patterns, some of which are not included within the clinical criteria of the diagnosis, but must be known. Dermal involvement as livedo reticularis is common. However, dermal necrosis is not usual. Thus, a case of antiphospholipid syndrome with dermal necrosis is presented as a primary manifestation of the disease.