Hemoglobin β-Globin Variants In Hispanic Patients: An Institutional Experience From Dallas, Texas.

Area of Science:

• Genetics
• Hematology
• Population Health

Background:

• Hemoglobinopathies are prevalent single-gene disorders globally.
• Existing research often overlooks the prevalence in Hispanic populations.
• Understanding ethnic and geographic variations is crucial for effective management.

Purpose of the Study:

• To investigate the prevalence and spectrum of β-globin variants in Hispanic patients.
• To analyze demographic factors associated with hemoglobinopathies in this population.
• To inform targeted screening and genetic counseling strategies.

Main Methods:

• Retrospective analysis of 846 patients undergoing hemoglobinopathy evaluation from 2010-2015.
• Utilized gel electrophoresis, HPLC, and HBB gene sequencing.
• Analyzed demographic data including ethnicity, age, and sex.

Main Results:

• A β-globin chain variant was detected in 67% of Hispanic patients (314/846).
• Hispanic patients represented 37% of the total study cohort.
• Ten variants were identified in over 1% of affected Hispanic patients.

Conclusions:

• Hispanic populations exhibit a significant prevalence of β-globin variants.
• Ethnic-specific data is essential for improving hemoglobinopathy screening and diagnosis.
• Enhanced understanding supports tailored patient care and genetic counseling.