The Chinese population could have alterations in their hemoglobin structure associated with hereditary anemias.
Population studies are key to discovering useful information in the optimization of the clinical approach of patients who require it. For that reason, from the CIHATA, it is proposed to solve an unknown about what are the genetic variants among the Chinese population in the country associated with the development of hereditary anemias (which do not respond to or require treatment with iron). According to the international scientific literature, the Chinese population has a higher frequency of molecular alterations in the genes found in hemoglobin.
Since 1980, the migration of Chinese people to Costa Rica has been consolidated in three places: Puntarenas, Limón, and Guanacaste. Later, there was a migration to the Central Valley, Turrialba, and Cartago. Due to these migratory flows, it is expected to find the presence of genetic variants. These data are significant for the development of molecular epidemiology in Costa Rica. That is why a group of researchers joined to conduct a research project registered in the Vicerrectoría de Investigación de la Universidad de Costa Rica (Research Vice-Rectory of the University of Costa Rica in English) called: "Estimation of the frequency of hemoglobinopathies and iron parameters in the Chinese population during the years 2022-2024 in Costa Rica.”
It should be emphasized that hemoglobin’s genetic alterations known as hemoglobinopathies are the most common monogenic pathologies (alterations in a single gene) worldwide and, although they have a worldwide distribution, they are more characteristic in certain regions and ethnic groups.
The clinical presentation of hemoglobinopathies is variable since it ranges from a mild illness (undetectable by common diagnostic methods) to severe complications involving lifelong blood transfusions, organ compromise, bone deformities, and infertility. Due to this clinical heterogeneity, the molecular diagnosis becomes important in hematological diseases as a means to avoid unnecessary treatments, deal with recurrent abortions without an established cause, and treat chronic hypochromic anemias that could worsen in situations such as pregnancy, trauma, or other complications resulting from inadequate care of these patients and their families.
*Research Project
This project focuses on studying the Chinese population by employing different diagnostic methods to detect if genetic variants associated with the development of hereditary anemias are found and identify how frequent these are.
Who can participate?
- People born in China or people with at least one consanguinity first (Chinese-born parents) or second degree (Chinese-born grandparents) relative.
- People of all ages starting from one year old, as long as they meet the aforementioned requirements.
- People who want to participate voluntarily in the project.
*Additional Information
To conduct this project, the participation of the target population is needed. Therefore, if you meet or know someone who meets the previous requirements, please contact Dr. Mariela Solano Vargas, research coordinator, at mariela.solanovargas@ucr.ac.cr. She will provide you with more information regarding the project itself, its scope, and your participation as part of the target audience.
If you are interested and decide to participate, some information will be collected through a questionnaire, an informed consent will be provided for you to sign, and a blood sample will be taken.
