Hereditary hemoglobin disorders in a Brazilian population

Area of Science:

• Hematology
• Genetics
• Public Health

Background:

• Hereditary hemoglobin disorders are a significant global health concern.
• Brazil's diverse population necessitates understanding the prevalence of these conditions.

Purpose of the Study:

• To determine the incidence of hereditary hemoglobin disorders in a mixed Brazilian population.
• To identify the most common hemoglobin variants and thalassemias in the studied region.

Main Methods:

• Survey of schoolchildren, mothers, and newborns for abnormal hemoglobin phenotypes.
• Analysis of patients and relatives at a University Hospital's Hematologic Clinic.
• Phenotypic identification of hemoglobin variants and thalassemias.

Main Results:

• Overall incidence of abnormal hemoglobin phenotypes was 5.3% in schoolchildren, 4.5% in mothers, and 2.8% in newborns.
• Common findings included hemoglobin AS (1.9%), AC (0.8%), and beta-thalassemia (0.8%) heterozygotes.
• In a clinical setting, heterozygous beta-thalassemia (35.2%) and hemoglobin S (32.5%) were most frequent, followed by sickle-cell anemia (13.0%).

Conclusions:

• Hereditary hemoglobin disorders, particularly sickle cell trait and beta-thalassemia, are common in the studied Brazilian population.
• Findings highlight the importance of screening and genetic counseling in this region.
• The prevalence data provide insights into the population's genetic origins and health burden.