Mutation patterns in the HBB gene determine the frequency and onset of blood transfusion in patients with beta-thalassemia major and HbE-beta thalassemia
This thesis report is submitted in partial fulfilment of the requirement for the degree of Master of Science in Biotechnology, 2019.
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Brac University
2020
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| גישה מקוונת: | http://hdl.handle.net/10361/13806 |
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10361-13806 |
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10361-138062020-03-01T21:01:16Z Mutation patterns in the HBB gene determine the frequency and onset of blood transfusion in patients with beta-thalassemia major and HbE-beta thalassemia Tasnim, Raisa Hossain, Mahboob Mannoor, Kaiissar Department of Mathematics and Natural Sciences, Brac University HbE-beta thalassemia Beta thalassemia major Sanger Nucleotide Sequencing HbVar database Thalassemia--Diagnosis This thesis report is submitted in partial fulfilment of the requirement for the degree of Master of Science in Biotechnology, 2019. Catalogued from PDF version of thesis. Includes bibliographical references (pages 53-54). Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form or inadequate amount of hemoglobin. Co-inheritance of beta-thalassemia alleles from two parents results in beta thalassemia major. Again co-inheritance of a beta-thalassemia allele from one parent and a structural variant of hemoglobin E from the other parent results in HbE-beta-thalassemia disorder. Patients with HbE/beta-thalassemia represents approximately 50 percent of severely affected beta thalassemia worldwide. Clinical manifestations of HbE-beta thalassemia are highly variable in terms of severity- from thalassemia intermedia like symptoms to severe transfusion-dependent thalassemia major. The reasons for this clinical variability is still poorly understood. In this study, a total seventeen patients with HbE-beta thalassemia and Beta thalassemia major were included. DNA was isolated from the patients’ blood samples and PCR was performed targeting a 428 bp as the mutational hot spot region of HBB gene. Sanger Nucleotide Sequencing was performed from the purified PCR products. BLAST and HbVar data base were used to identify the mutations of HBB gene responsible for the disease manifestations of the listed patients. Hemoglobin Electrophoresis was also performed to detect and quantify the Hb variants presented in the patients. Total five types of mutations were identified in the patients of group-1 with HbE-beta thalassemia and beta thalassemia major (early-onset) namely: c.79G>A, IVS-1_5 G>C, c.126_129del_CTTT, c.33 C>A, c.47 G>A and total four types of mutations were found in the patients of group-2 with HbE-beta thalassemia (late-onset) namely: c.9 T>C, c.79 G>A, IVS-1_130 G>C and c.126_129 del_CTTT. Group-1 patients needed blood transfusions from an early age as they had mutation IVS-1_5 G>C (homozygous) or combination of mutations c.79G>A and IVS-1_5 G>C which were highly pathogenic. Group-2 patients needed blood transfusion after 18 years as their mutations were less pathogenic or severe. The findings from this study will be beneficial for careful tailoring of therapeutic approaches and management of the complications associated with the treatments of Hb E/beta-thalassemia and beta thalassemia major patients. Raisa Tasnim M. Biotechnology 2020-03-01T04:31:11Z 2020-03-01T04:31:11Z 2019 2019-11 Thesis ID 17376001 http://hdl.handle.net/10361/13806 en Brac University theses are protected by copyright. They may be viewed from this source for any purpose, but reproduction or distribution in any format is prohibited without written permission. 54 pages application/pdf Brac University |
| institution |
Brac University |
| collection |
Institutional Repository |
| language |
English |
| topic |
HbE-beta thalassemia Beta thalassemia major Sanger Nucleotide Sequencing HbVar database Thalassemia--Diagnosis |
| spellingShingle |
HbE-beta thalassemia Beta thalassemia major Sanger Nucleotide Sequencing HbVar database Thalassemia--Diagnosis Tasnim, Raisa Mutation patterns in the HBB gene determine the frequency and onset of blood transfusion in patients with beta-thalassemia major and HbE-beta thalassemia |
| description |
This thesis report is submitted in partial fulfilment of the requirement for the degree of Master of Science in Biotechnology, 2019. |
| author2 |
Hossain, Mahboob |
| author_facet |
Hossain, Mahboob Tasnim, Raisa |
| format |
Thesis |
| author |
Tasnim, Raisa |
| author_sort |
Tasnim, Raisa |
| title |
Mutation patterns in the HBB gene determine the frequency and onset of blood transfusion in patients with beta-thalassemia major and HbE-beta thalassemia |
| title_short |
Mutation patterns in the HBB gene determine the frequency and onset of blood transfusion in patients with beta-thalassemia major and HbE-beta thalassemia |
| title_full |
Mutation patterns in the HBB gene determine the frequency and onset of blood transfusion in patients with beta-thalassemia major and HbE-beta thalassemia |
| title_fullStr |
Mutation patterns in the HBB gene determine the frequency and onset of blood transfusion in patients with beta-thalassemia major and HbE-beta thalassemia |
| title_full_unstemmed |
Mutation patterns in the HBB gene determine the frequency and onset of blood transfusion in patients with beta-thalassemia major and HbE-beta thalassemia |
| title_sort |
mutation patterns in the hbb gene determine the frequency and onset of blood transfusion in patients with beta-thalassemia major and hbe-beta thalassemia |
| publisher |
Brac University |
| publishDate |
2020 |
| url |
http://hdl.handle.net/10361/13806 |
| work_keys_str_mv |
AT tasnimraisa mutationpatternsinthehbbgenedeterminethefrequencyandonsetofbloodtransfusioninpatientswithbetathalassemiamajorandhbebetathalassemia |
| _version_ |
1814309044548009984 |