Spectrum of hemoglobinopathies with hematological and biochemical profile: A five year experience from a tertiary care hospital.

Background & Objective: Determination of hemoglobinopathies is significant for epidemiological studies. There is a need to identify burden of hemoglobinopathies at national level to lay down the foundation of appropriate screening and prevention programs. The present study aimed to evaluate the spectrum of hemoglobinopathies along with hematological and biochemical parameters in a tertiary care hospital. Methods: This retrospective study included results of high performance liquid chromatography (HPLC) test from July 2015 - May 2020 in the department of Hematology, Indus Hospital and Health Network, Karachi, Pakistan. Data of all patients collected for red blood cell (RBC) indices, serum iron profile, and vitamin B12 and red cell folate levels. Diagnosis of hemoglobinopathies was done by an automatic analyzer ADAMS A1C Model No. HA-8180T Arkray/Japan. Results: Among 2422 participants, hemoglobinopathy observed in 14.5% (n=352). Beta thalassemia trait is observed as the most common hemoglobinopathy (6.4%). Severe anemia (Hb=5.1-5.5 g/dl) found in beta thalassemia major (BTM) and HbE disease. Red cell parameters showed significant association with different types of hemoglobinopathies. Mean ferritin level was high in E-beta thalassemia (687.8±591.9) followed by sickle cell disease (615.7±543.5). Conclusion: Apparently, overall frequency is static however, results of this study are not applicable to general population due to sample bias. Moreover, true figures are difficult to identify due to high incidence of iron deficiency anemia that masks the diagnosis by conventional techniques. Molecular characterization by DNA analysis is the most reliable tool of diagnosis. However, this method is not widely available in our country due to lack of expertise and cost issues.