Frequency of Cap+1 Mutation in Beta Thalassemia and its Associated Haematological Features

Objective: To study the frequency of Cap+1 mutation and associated hematological parameters in suspected beta thalassemia patients.
 Study Design: Analytical cross-sectional study.
 Place Duration Study: Department Hematology, Armed Forces Institute Pathology (AFIP) Rawalpindi from Aug 2017 to 2018.
 Methodology: 960 patients have were inducted into study. After detailed history examination basic (Hemoglobin, Mean Corpuscular Volume, Hemoglobin) analyzed using automated analyzer (Sysmex XE-5000). Molecular genetic analysis by conventional PCR was carried out for CAP+1 mutation. Genomic DNA purification kit (Gentra system USA) used extracting whole blood order molecular genetics Primers designed detection normal mutant DNA.
 Results: The observed 3.2 ± 1.7% (31/960) all cases with a range Hemoglobin (12.4 1.1 g/dl), Volume (86.4 2.1fl/red cell) (29 1.7pg/cell).
 Conclusion: is silent its diagnosis remains challenge because clinical presentation mildly deranged parameters. Detection at level has revolutionized prevention program Pakistan.