Background: Hemoglobinopathies are a very heterogeneous group of congenital hemolytic anemia.
Aim of the study: Was to detect the prevalence of hemoglobinopathy disorders in adult patients sent for diagnosis of anemia by high-performance liquid chromatography techniques in Saudi Arabia.
Subjects: A total of 329 blood samples from suspected cases with an average age of 39±6.49 of both sexes (140 men and 189 women) were included in the study.
Main outcome measure: A total of 118 (35.9%) patients were found to have a normal pattern of hemoglobin (Hb)-electrophoresis with a mean level of HbA (α(2)β(2)) (97.0%±0.40%), HbA2 (α(2)δ(2)) (2.72%±0.55%), and HbF (α(2)γ(2)) (0.59%±0.25%). One hundred twenty (36.5%) subjects were normal with iron deficiency masking the thalassemic trait (Hb: 8.71±1.7 g/dL, iron level: 3.62±2.7 μg/dL, total iron-binding capacity: 86.9±21.5 μg/dL).
Results: The remaining 91 (27.66%) patients showed different abnormal hemoglobin variants; 5 (1.5%) subjects had persistence of fetal HbF (7.12%±11.1%). Thirty-three (10.0%) subjects had β-thalassemia with a high level of HbA2 (>5.54%). Eleven (3.3%) had β-thalassemic/sickle cell disease. Twenty-nine (8.8%) had sickle cell trait with a level of HbS α(2)β(S)(2)<45%, and thirteen (4.0%) had sickle cell disease with a high level of HbS ≥45%.
Conclusion: β-thalassemia and sickle cell anemia are the most common monogenic disorders in Saudi Arabia. This is a serious health threat to our nation, if it is allowed to continue without taking preventive measures.