Authors : Anil Kumar Malik
DOI : 10.18231/j.ijmmtd.2020.031
Volume : 6
Issue : 3
Year : 2020
Page No : 139-142
Context: Abnormal haemoglobinopathis are generally observed deviant disarray happen due to genetic inequality within the alpha and beta chains amino acids sequences alters.
Aims and objectives: a total of 933 cases were included in the study for detection of Thalassemic cases.
Out of these positive thalassemic cases were further analysed for gene frequency.
Materials and Methods: Starting with complete Blood Cell counts which has led to suspected cases for further analysis by haemoglobin electrophoresis by HPLC (high performance liquid chromatography) for confirmation of Thalassemic cases. Finally gene frequency detection by ARMS (Amplification Refractory Mutation System) by using PCR (Polymerase Chain Reaction).
Isolation of DNA from whole blood by commercially available kit (QIA amp DNA blood midi kit 100 samples).
Result: A sum total of 933 subjects, aged between 01-30 yrs were studied and it depicts 4.1% prevalence. b -thalassemia trait was screened as highest and S-D disease as lowest. The frequencies with respect to ABO is shown as B>0>AB>A. The amplicons which were analysed after gel electrophoresis were screened for ARMS, PCR, which IVS1-5 (G-C) Maccounts for almost 50.0% and lowest is Fr 8/9 (+G) M is 12.1%.
Conclusion: As such patients requires repeated blood transfusion so availability of maximum type of affected Blood group is the time of need for availability to with blood banks. Further genetic studies will definitely help in effective for further pharmaceutical companies.
Keywords: ABO, Haemoglobinopathy, Agarose gel electrophoresis, HPLC, ARMS, PCR.