Undiagnosed Hemoglobinopathies: A potential threat to the premarital screening program

Area of Science:

• Hematology
• Genetic Disorders
• Public Health

Background:

• Hemoglobinopathies represent a significant global health burden.
• Premarital screening is crucial for identifying carriers and preventing genetic disorders.
• Undiagnosed hemoglobinopathies can lead to severe health complications.

Purpose of the Study:

• To determine the prevalence of undiagnosed hemoglobinopathies in individuals attending a premarital screening center.
• To assess the spectrum of hemoglobin abnormalities detected during screening.

Main Methods:

• A cross-sectional study involving 3,970 individuals (1,859 males, 2,111 females) at a Premarital Screening Centre.
• Analysis of complete blood count, hemoglobin electrophoresis, and sickling tests.
• Statistical analysis of collected data.

Main Results:

• Abnormal results were observed in 1,312 individuals.
• Prevalence included sickle cell trait (13.5%), sickle cell disease (0.7%), beta-thalassemia trait (1.51%), beta-thalassemia major (0.075%), and suspected alpha-thalassemia or other hemoglobinopathies (4.43%).
• Undiagnosed cases (0.91%) and iron deficiency (7.23%) were also identified.

Conclusions:

• A substantial proportion of individuals exhibit potential alpha-thalassemia or other hemoglobinopathies requiring further diagnosis.
• Enhanced premarital screening protocols are needed to diagnose inconclusive cases.
• Co-existing iron deficiency with thalassemia should be investigated during premarital screening.