Clinical assessment of three hemoglobin screening programs on a selected population

Area of Science:

• Medical Genetics
• Hematology
• Public Health Screening

Background:

• Hemoglobinopathies are a group of inherited blood disorders.
• Screening programs are crucial for early detection and management.
• Understanding the prevalence and documentation of hemoglobin variants is important for clinical practice.

Purpose of the Study:

• To report the findings of hemoglobinopathy screening across three programs.
• To assess the prevalence of hemoglobin variants in the screened population.
• To evaluate the physician's documentation of identified hemoglobinopathies in patient records.

Main Methods:

• Screening of 9,675 individuals through three related programs.
• Analysis of identified hemoglobin variants, including their prevalence and distribution.
• Review of medical records to assess physician annotation of hemoglobinopathy findings.

Main Results:

• 333 hemoglobinopathy variants were identified in 3.4% of individuals screened.
• The majority of variants (90.7%) were found in the Black population.
• Physician documentation of hemoglobin abnormalities occurred in only 14.4% of records, with higher rates for clinically manifested disease.

Conclusions:

• Hemoglobinopathy variants are prevalent, particularly in the Black population.
• There is a significant gap in physician documentation of identified hemoglobinopathies.
• Improved documentation is needed for effective patient management and follow-up.