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Published on: September 6, 2017
[Importance of early detection of hemoglobinopathies in the pediatric population in developing countries]
Marisol Aguirre1, Diego Medina2, María Valeria Araujo2
1Centro de Investigaciones Clínicas, Fundación Valle del Lili, Cali, Colombia.
Insights
Early detection of hemoglobinopathies, the most common monogenic recessive disorder, is crucial in pediatric patients. This study highlights the need for increased awareness and education among healthcare professionals to improve diagnosis rates and patient outcomes.
Area of Science:
- Medical Genetics
- Hematology
Background:
- Hemoglobinopathies are the most frequent monogenic recessive disorders globally.
- Early detection is vital for managing these conditions and preventing complications.
Purpose of the Study:
- To raise awareness among health personnel regarding the importance of early hemoglobinopathy detection.
- To analyze the frequency and types of hemoglobinopathies in pediatric patients.
Main Methods:
- Retrospective study of 152 pediatric patients (0-18 years) evaluated for suspected hemoglobinopathies in 2017.
- Capillary electrophoresis (CE) was used for diagnosis.
- Data collected from medical records and the Hematology Laboratory, with ethical approval.
Main Results:
- A 42.7% frequency of hemoglobinopathies was observed in the study population.
- Sickle cell trait (Hb S) was the most common variant (14.5%).
- Hematologists most frequently requested CE for diagnosis.
Conclusions:
- Hemoglobinopathies are often diagnosed late in pediatric patients, potentially leading to disease progression and increased healthcare costs.
- Enhanced information and education for general physicians and pediatricians are necessary for timely diagnosis.
Objective:
The objective of this study is to spread awareness among health personnel about the importance of early detection of hemoglobinopathies since it is the most frequent monogenic recessive disorder worldwide.
Patients And Method:
Retrospective study of the results of capillary electropho resis (CE) of 152 patients aged between 0 and 18 years who were evaluated in 2017 due to suspected hemoglobinopathies in a University Hospital in Colombia. The information was collected from me dical records and the Hematology and Hemostasis Laboratory, ensuring data privacy and approved by the local Ethics Committee.
Results:
Of 152 patients, 48.6% were aged between 7 and 18. The frequency of hemoglobinopathies was 42.7%. The most frequent hemoglobin variant was the sickle cell trait (Hb S) with 14.5%. The hematologist was the professional who most frequently requested CE.
Discussion:
We found that hemoglobinopathies are usually diagnosed late in pediatric patients. This may favor complications and progression of the disease and increase healthcare costs. More information and education are required for general physicians and pediatricians in order to achieve early diagnosis.
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