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Hematology


The Hematology and Related Disorders Research Center (known in Spanish as Centro de Investigación en Hematología y Trastornos Afines or CIHATA) has developed the hematology line as a research, teaching, and care unit for the Costa Rican health system since 1978. The main goal of the conducted research has been to provide advances in diagnosis, prognosis, and treatment of patients with hematological diseases, whether inherited or acquired.
For the constant development of this field, the center has partnered with the Microbiology and Medicine Schools of the University of Costa Rica to collaborate with the postgraduate specialty program in hematology. In addition, it has formed working alliances with the World Federation of Hemophilia in Germany, the Institut für Experimentelle Hämatologie und Transfusionsmedizin (Institute for Experimental Hematology and Transfusion Medicine in English) in the University Hospital Bonn (known in German as UKB) in Germany, the Boston Medical College in the United States, and the Fundación de Drepanocitosis (Sickle Cell Foundation in English) in Costa Rica.
Furthermore, the CIHATA has historically functioned as a reference center for some specialized tests for the national health system. For this reason, the processed information is an input for epidemiological studies of certain pathologies in our country.
The research line in hematology aims to innovate in applied research. This is to offer the most advanced diagnostic and therapeutic methods in the field to Costa Rican and Central American patients. Moreover, this research line provides the knowledge of researchers and the availability of the infrastructure to other professionals so that they can take courses or internships of interest at the center as part of joint growth and progress with the region.
Under this line, work areas are divided into basic hematology, molecular and biochemical diagnosis of hematological pathologies (hemoglobinopathies and related disorders, hematologic malignancy, and coagulation disorders), pharmacogenetics, and external control at the national level. These are to strengthen the three fundamental foundations of the University of Costa Rica: teaching, research, and social action.

Projects list

Acute myeloid leukemia (AML) is a hematological neoplastic disease with a poor prognosis since patients have an average survival of 17% at 5 years. This study aims to analyze the genetic profile, at the time of diagnosis, of patients with acute myeloid leukemia who are between 13 and 60 years old and who were diagnosed at Mexico Hospital between the years 2019-2021. In our region and particularly in our country, there is no clear data on the most frequent genetic alterations in the population, which is extremely important data since it could have an impact on the level of prognosis and individualized treatment. Using the next generation sequencing (NGS) technique, we seek to analyze the presence or absence of the genetic alterations most commonly associated with AML at the time of diagnosis in order to know the profile of our patients. If any high-incidence genetic alteration has a targeted therapy that has already been studied internationally, this study could provide statistical support to justify the need for a more individualized approach in our patients to increase survival.
This project seeks to identify those pediatric patients diagnosed with B-cell acute lymphoid leukemia who meet the IKZF1 plus genetic profile and analyze their association with a poor prognosis. The IKZF1 plus profile was first described in 2018 and includes the analysis of 6 genes (IKZF1, CDKN2A, CDKNAB, PAX5, PAR1, and ERG), which are analyzed to find deletions. It has been reported that patients who meet the IKZF1 plus profile have fewer possibilities of survival and a higher risk of relapse, making necessary a stronger treatment from the beginning to reduce this risk. In Costa Rica, through a previous study, we noticed that the IKZF1 deletion is present in a 13% (similar to what the literature states). For this reason, it is of great interest to know those patients who meet this newly described profile and to improve the initial risk classification given to individualize their treatment and favor their prognosis. In addition, before implementing such costly tests in the Costa Rican Social Security System (Caja Costarricense del Seguro Social or CCSS in Spanish), a justification supported by the percentage of incidence in our country and its association with poor prognosis in patients under our treatment protocol is required.
This study will help identify in the youngsters’ blood, more sensitive biochemical markers for the early detection of prediabetes and type 2 diabetes mellitus along with its comorbidities (dyslipidemia and high blood pressure) in overweight children and adolescents. This information will be relevant to public health and will provide guidelines to include these new markers among the routine clinical laboratory parameters in this population. Moreover, this research will focus on promoting the comprehensive education of children and adolescents, which implies reversing, through contextualized educational interventions, unhealthy eating trends, and sedentary lifestyles.
Through this research project, the CIHATA intends to strengthen applied work, that is, moving from basic science knowledge to its clinical application. This approach to translational hematology is key to generating epidemiological information from the Chinese population which has a high frequency of hemoglobin variants (so far, unknown information in the national context) according to international studies. Delving into the molecular detection of these variants will allow a better understanding of the defects and the reason for their clinical presentation. This opens the field to studying new variants, the interaction with other variants of the same or different genes, their modulation in the epigenetic area, proteomics, personalized medicine, and therapeutic targets, among others.