Tahira Atta, Suhaib Ahmed, Fareeha Naseer, Akhtar Munir, Jaleel Anwar.
Comparison of Two Different Mutations (H63d and C282y) in Increased Bone Marrow Iron patients.
Pak J Med Health Sci Jan ;12(3):961-2.

Aim: To Compare the H63D and C282Y mutations in increased bone marrow iron patients . Study design : Descriptive cross sectional. Setting : The study was carried out on patients with increased bone marrow iron at hematology Department, Armed Forces Institute of Pathology Rawalpindi (AFIP, Rawalpindi ). Methodology : A total of 65 patients with increased bone marrow iron were studied. Genomic DNA was extracted from whole blood by using DNA extraction kit. Polymerase chain reaction was done and amplification products were digested with the restriction enzymes (Snab 1 for C282Y mutation and Mbol for H63D mutation). Digestion products were resolved on polyacrylamide gel and stained with silver nitrate. Results : H63D mutation was detected in 10/65 (15. 4%) patients and C282Y mutation was not detected in any patient. Conclusion : A significant number of patients (15 .4%) with increased bone marrow iron have hereditary hemochromatosis.

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