Clinicohematological Characteristics, Types and Frequency of Hemoglobinopathies; A Nonhospital Based Laboratory Experienced from Pakistan

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Introduction: Thalassemia is a genetic disease which has autosomal recessive pattern of inheritance with carrier rate of thalassemia is 5-7% in Pakistan.The study was planned to observe the types, frequency and detailed clinicohematological of hemoglobinopathies in the Karachi, the largest cosmopolitan city of the country. Materials and Methods:An observational and cross-sectional study conducted during the period of September 2020 to February 2022 at Dr. Essa Laboratory and Diagnostic center.A total of 1365 participants were included.CBC was performed using XP-100 and Hb Electrophoresis was done using Bio-Rad D10 analyzer.All parameters were calculated in mean, standard deviation and percentages using SPSS version 23.Results: Among 1365 participants, the Iron deficiency anemia (IDA) was more common in patients 971(71%) followed by thalassemia minor 276 (20%), thalassemia major 90 (7%), HbD disease 20 (1.46%) and HbE disease 08 (0.5%).The most common presenting complain was weakness observed in 933 (68.3%) patients followed by vertigo in 230 (16.8%) and body pain in 102 (7.47%) patients.A significant low level of Hb 5.9 ± 2.95 and MCV 17.3 ± 4.9 were observed in Thalassemia major patients with p = < 0.001. Conclusion:Although thalassemia is a genetic disease, but higher frequency was found in our population with IDA and thalassemia minor.Screening before marriages and adequate measures especially prenatal diagnosis should be performed to reduce the possibility of Hemoglobinopathies.However, this study has been done on small number of sample size in one large cosmopolitan city of Karachi and requires evaluating further with large number of sample size within different areas of Pakistan.