Background: Sickle cell disease and its variants result from an abnormal hemoglobin, hemoglobin S (HbS), caused by a single point mutation in the Beta-Globin gene. Hypoxia causes polymerization and distortion of Hb S containing red blood cells resulting in sickle crisis and hemolytic anemia. Common diagnostic methods include high-performance liquid chromatography (HPLC) and hemoglobin electrophoresis. The purpose of this research is to determine the frequency of sickle cell hemoglobin in HPLC samples and its geographical distribution in Pakistan. Materials and Methods: Data was collected from the samples received from 1st February 2020 to 31st January 2021. Proforma included demography, complete blood count parameters, and variants of sickle cell disease which were extracted from hospital records. Analysis was done using the SPSS (version 26). Results: Out of 14,740 samples, 295 (2%) revealed HbS. These patients had a mean age of 14.2 years. The male-to-female ratio was 1.5:1. The samples were received from Baluchistan (43%), followed by Sindh (32.1%), Khyber Pakhtunkhwa (16%), and Punjab (8.9%). Mean hemoglobin was 8.6 ± 2.6 g/dl, lowest and highest were 2.4 g/dl and 16.9 g/dl, respectively. Sickle cell trait was found in 21.3% of the patients, homozygous HbSS in 27.7%, sickle beta thalassemia in 30.8%, 4.4% were compound heterozygotes for Hb S and Hb D, whereas 15.5% were posttransfusion samples. Conclusion: Our analysis showed that the highest frequency was of sickle beta thalassemia and other variants being low. This study also proved it to be more prevalent in Baluchistan with relatively high male preponderance.
- Complete blood count parameters
- high-performance liquid chromatography
- sickle cell disease[/TAG:2]