Contributions
Abstract: PB2493
Type: Publication Only
Background
Differentiation between thalassaemia major and thalassaemia intermedia at presentation is not uniformly characterized, for which an absolute criteria needs to be developed.
Aims
This study investigated the primary and secondary genetic modifiers to develop a laboratory finding by forming different genetic mutational combinations seen among thalassaemia intermedia patients and comparing them with thalassaemia major.
Methods
This cross sectional study analyzed 315thalassaemia intermedia patients. Selection primarily based with hemoglobin between 3-10gm/dl after 2 years of age. 105thalassaemia major patients were recruited on the basis of documented evidence of diagnosis and were receiving blood transfusion therapy regularly. Mutations were identified and various mutational combinations were formed and comparison was done between thalassemia intermedia and major using statistical software STATA 11.1.
Results
The mean age of the total population was 5.9 +/-5.32 years of which 165 (52%) were males and 150 (48%) were females. Of the two groups (thalassemia intermedia and thalassemia major), IVSI-5, IVSI-1 and Fr 8-9 are more prevalent among the thalassemia intermedia cohort. When comparison was done between the thalassemia intermedia and thalassemia major patients, it showed significant results (p-value<0.001) for the presence of Xmn-1 polymorphism.
Conclusion
The presence of IVSI-5 homozygous with Xmn-1, IVSI-5 heterozygous with Xmn-1, Cd30 homozygous with or without Xmn-1 and IVSI-1 homozygous or heterozygous either with or without Xmn-1 prove to be strong indicators towards diagnosis of thalassemia intermedia.
Session topic: 28. Thalassemias
Keyword(s): Anemia, Blood transfusion, Mutation, Thalassemia
Abstract: PB2493
Type: Publication Only
Background
Differentiation between thalassaemia major and thalassaemia intermedia at presentation is not uniformly characterized, for which an absolute criteria needs to be developed.
Aims
This study investigated the primary and secondary genetic modifiers to develop a laboratory finding by forming different genetic mutational combinations seen among thalassaemia intermedia patients and comparing them with thalassaemia major.
Methods
This cross sectional study analyzed 315thalassaemia intermedia patients. Selection primarily based with hemoglobin between 3-10gm/dl after 2 years of age. 105thalassaemia major patients were recruited on the basis of documented evidence of diagnosis and were receiving blood transfusion therapy regularly. Mutations were identified and various mutational combinations were formed and comparison was done between thalassemia intermedia and major using statistical software STATA 11.1.
Results
The mean age of the total population was 5.9 +/-5.32 years of which 165 (52%) were males and 150 (48%) were females. Of the two groups (thalassemia intermedia and thalassemia major), IVSI-5, IVSI-1 and Fr 8-9 are more prevalent among the thalassemia intermedia cohort. When comparison was done between the thalassemia intermedia and thalassemia major patients, it showed significant results (p-value<0.001) for the presence of Xmn-1 polymorphism.
Conclusion
The presence of IVSI-5 homozygous with Xmn-1, IVSI-5 heterozygous with Xmn-1, Cd30 homozygous with or without Xmn-1 and IVSI-1 homozygous or heterozygous either with or without Xmn-1 prove to be strong indicators towards diagnosis of thalassemia intermedia.
Session topic: 28. Thalassemias
Keyword(s): Anemia, Blood transfusion, Mutation, Thalassemia