Contributions
Abstract: PB2348
Type: Publication Only
Background
Glanzmann thrombasthenia is a platelet function disorder that is caused by an abnormality in the genes for glycoprotein IIb/IIIa receptor. The receptor is either absent or does not function properly as a result of which the platelets do not have the ability to attract each other and the coagulation factors and thus leads to impaired clot formation. A number of bleeding assessment tools (BATs) has been developed to standardize the bleeding history. To improve the diagnostic accuracy and sensitivity by predicting the future risk of bleeding.
Aims
To evaluate the genetic mutation and BAT scoring assessment of diagnosed GT patients.
Methods
This was an observational study, conducted at the National Institute of Blood disease Karachi. Diagnosed GT patients of all age group of either gender were included in this study. Polymerase chain reaction (PCR) was used to amplify all coding regions of the ITGA2B and ITGB3 genes (using reference sequences NM_000419 and NM_000212, respectively). ABI-3500 was used for genomic analysis. ISTH-BAT questionnaire assessment was applied to evaluate bleeding score.
Results
A total of 11 patients were included in this study. At diagnosis, female to male ratio was 7:4. The median age was 7 years with range of 2-17 years. Consanguineous marriages with positive family history were reported in the study. Missense, nonsense, deletion, insertion and splice site were the types of mutations observed in our study. Of these mutations, missense (54.5%) was the most common. The study was assessed in the GT patients with respect to ISTH-BAT scoring with mean BAT score of the patient at diagnosis was 9.27 ± 4.1. The clinical manifestations observed in our study were epistaxis and gums bleed (82%) each, GI bleed (27%), menorrhgia (18%) and hematoma and hemarthrosis (9%).
Conclusion
Mutational analysis is a key component of a complete diagnosis of GT with respect to The ISTH-BAT is a useful tool for documenting bleeding symptoms.
Session topic: 33. Platelets disorders
Keyword(s): Glanzmann, mutation analysis
Abstract: PB2348
Type: Publication Only
Background
Glanzmann thrombasthenia is a platelet function disorder that is caused by an abnormality in the genes for glycoprotein IIb/IIIa receptor. The receptor is either absent or does not function properly as a result of which the platelets do not have the ability to attract each other and the coagulation factors and thus leads to impaired clot formation. A number of bleeding assessment tools (BATs) has been developed to standardize the bleeding history. To improve the diagnostic accuracy and sensitivity by predicting the future risk of bleeding.
Aims
To evaluate the genetic mutation and BAT scoring assessment of diagnosed GT patients.
Methods
This was an observational study, conducted at the National Institute of Blood disease Karachi. Diagnosed GT patients of all age group of either gender were included in this study. Polymerase chain reaction (PCR) was used to amplify all coding regions of the ITGA2B and ITGB3 genes (using reference sequences NM_000419 and NM_000212, respectively). ABI-3500 was used for genomic analysis. ISTH-BAT questionnaire assessment was applied to evaluate bleeding score.
Results
A total of 11 patients were included in this study. At diagnosis, female to male ratio was 7:4. The median age was 7 years with range of 2-17 years. Consanguineous marriages with positive family history were reported in the study. Missense, nonsense, deletion, insertion and splice site were the types of mutations observed in our study. Of these mutations, missense (54.5%) was the most common. The study was assessed in the GT patients with respect to ISTH-BAT scoring with mean BAT score of the patient at diagnosis was 9.27 ± 4.1. The clinical manifestations observed in our study were epistaxis and gums bleed (82%) each, GI bleed (27%), menorrhgia (18%) and hematoma and hemarthrosis (9%).
Conclusion
Mutational analysis is a key component of a complete diagnosis of GT with respect to The ISTH-BAT is a useful tool for documenting bleeding symptoms.
Session topic: 33. Platelets disorders
Keyword(s): Glanzmann, mutation analysis