Background The study was conducted to find the prevalence of hemoglobinopathies along with their geographical/ethnic distribution to highlight the region of high prevalence that can be used to guide screening. Method Results of blood samples received for hemoglobin variants determination by high-performance liquid chromatography (HPLC) were retrospectively analyzed at Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore. Blood samples were assayed for CBC (complete blood count), red blood cell morphology, and hemoglobin analysis by HPLC. CBC was performed on Sysmex XN 9000 analyzer (Sysmex, Kobe Japan), peripheral smears to review RBC morphology were stained with Wright-Giemsa stain, and HPLC was performed on BIO-RAD variant II (Bio-Rad Laboratories, Hercules, USA). Results Hemoglobinopathies were identified in 9.7% (n=997) out of 10,297 samples. Beta thalassemia trait was the most common hemoglobinopathy recognized with a prevalence of 5% (n=516), with the maximum number of cases in the Lahore district of Punjab province. The next most common hemoglobinopathy identified was sickle cell disease with a frequency of 1.43% (n=148) and the maximum cases from the Dera Ismail Khan district of the Khyber Pakhtunkhwa province. The additional important hemoglobinopathies found were sickle cell trait, hemoglobin-D Punjab trait, and compound heterozygote for sickle and beta thalassemia. Conclusion Hemoglobinopathies are the most common inherited disorders in Pakistan and worldwide. Screening for hemoglobinopathies is recommended in high-prevalence districts of Pakistan. Sickle cell screening is also recommended in newborns in the high prevalence area of Pakistan, such as the northwest regions.
Keywords: fetal hemoglobin; hemoglobin d; hemoglobin: hb; sickle cell disease: scd; β-thalassemia.
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