GENOTYPE / PHENOTYPE PATTERN IN EGYPTIAN PATIENTS WITH SICKLE CELL DISEASE
(Abstract release date: 05/19/16)
EHA Library. AG Tantawy A. 06/09/16; 135028; PB2128
Dr. Azaa AG Tantawy
Contributions
Contributions
Abstract
Abstract: PB2128
Type: Publication Only
Background
Sickle cell disease (SCD) refers to all different genotypes that cause this clinical syndrome, yet secondary effectors genes are likely to modulate its phenotype.
Aims
This study aimed to evaluate genotype variation and allele segregation among SCD patients and its relation to the different clinical presentations.
Methods
This cross-sectional study included 38 SCD patients. Genotyping for beta thalassemia gene(BT) mutations was performed using polymerase chain reaction (PCR) and reverse hybridization. Assessment of genotype relation to phenotype was based on: Onset of the disease, transfusion history, baseline MCV, HbF%, frequency of pain episodes, and hospitalization, percentage of patients who suffered from acute chest syndrome, stroke and avascular necrosis, sickling score, echocardiographic, carotid doppler findings
Results
The most common BT gene mutation among SCD patients was Codon 6[A>T] HbS / β̊ IVS1-1[G>A] (18%), then Codon 6[A>T] HbS / β+ IVS1-110[G>A] (8%). 55% of the patients were diagnosed by baseline Hb electrophoresis as Sβ+. Only 52% of sickle cell disease patients by genotype had MVC normal and 72 % had HbA2 <3.6%. Eighty eight% of Sβ 0patients by genotype had low MCV, while half of Sβ +patients had HbA2 >5%. Although, we found a higher baseline Hb S% and a lower Hb F% among homozygous sickle cell patients compared with the 2 other groups, yet the results did not reach statistical significance Homozygous SCD patients had a significantly earlier age of onset, a higher baseline MCV and a lower HbF % compared with Sβ0 and Sβ+ patients, but a comparable baseline markers of hemolysis. Eighty percent of our studied Sickle cell patients had acute painful episodes, 18% suffered from at least one attack of acute chest syndrome, 5.3% had avascular necrosis of femur 15.8% had single episode of stroke while 6% had cardiac morbidity, 13% had impaired left ventricular contractility, (8%) had cardiomyopathy, none had pulmonary hypertension, and all had normal transcranial Doppler. We did not find significant difference between all 3 groups as regard the frequency of painful Crises, the need for hospitalization, the percentage of patients with avascular necrosis, cerebral stroke, acute Chest Syndrome and the sickling score. Causes for transfusion varied among different groups, the most common cause in homozygous sickle cell disease and sickle β0 patients was painful crises and stroke (36%&20%), while in sickle β+ thalassemia patients, the only cause was anemia(100%).This variation was not statistically significant, and all 3 groups had comparable mean pretransfusion Hb level, number of transfusion, transfusion requirement. Moreover, we did not find significant difference between the three groups as regard number of patients on Hydroxyurea treatment (76% among homozygous sickle cell patients, 67% among Sβ0 and 75% among Sβ +patients.
Conclusion
the presence and the nature of associated β-thalassaemia mutations influences the clinical presentation of sickle cell disease.
Session topic: E-poster
Keyword(s): Genotype, Phenotype, Sickle cell disease
Type: Publication Only
Background
Sickle cell disease (SCD) refers to all different genotypes that cause this clinical syndrome, yet secondary effectors genes are likely to modulate its phenotype.
Aims
This study aimed to evaluate genotype variation and allele segregation among SCD patients and its relation to the different clinical presentations.
Methods
This cross-sectional study included 38 SCD patients. Genotyping for beta thalassemia gene(BT) mutations was performed using polymerase chain reaction (PCR) and reverse hybridization. Assessment of genotype relation to phenotype was based on: Onset of the disease, transfusion history, baseline MCV, HbF%, frequency of pain episodes, and hospitalization, percentage of patients who suffered from acute chest syndrome, stroke and avascular necrosis, sickling score, echocardiographic, carotid doppler findings
Results
The most common BT gene mutation among SCD patients was Codon 6[A>T] HbS / β̊ IVS1-1[G>A] (18%), then Codon 6[A>T] HbS / β+ IVS1-110[G>A] (8%). 55% of the patients were diagnosed by baseline Hb electrophoresis as Sβ+. Only 52% of sickle cell disease patients by genotype had MVC normal and 72 % had HbA2 <3.6%. Eighty eight% of Sβ 0patients by genotype had low MCV, while half of Sβ +patients had HbA2 >5%. Although, we found a higher baseline Hb S% and a lower Hb F% among homozygous sickle cell patients compared with the 2 other groups, yet the results did not reach statistical significance Homozygous SCD patients had a significantly earlier age of onset, a higher baseline MCV and a lower HbF % compared with Sβ0 and Sβ+ patients, but a comparable baseline markers of hemolysis. Eighty percent of our studied Sickle cell patients had acute painful episodes, 18% suffered from at least one attack of acute chest syndrome, 5.3% had avascular necrosis of femur 15.8% had single episode of stroke while 6% had cardiac morbidity, 13% had impaired left ventricular contractility, (8%) had cardiomyopathy, none had pulmonary hypertension, and all had normal transcranial Doppler. We did not find significant difference between all 3 groups as regard the frequency of painful Crises, the need for hospitalization, the percentage of patients with avascular necrosis, cerebral stroke, acute Chest Syndrome and the sickling score. Causes for transfusion varied among different groups, the most common cause in homozygous sickle cell disease and sickle β0 patients was painful crises and stroke (36%&20%), while in sickle β+ thalassemia patients, the only cause was anemia(100%).This variation was not statistically significant, and all 3 groups had comparable mean pretransfusion Hb level, number of transfusion, transfusion requirement. Moreover, we did not find significant difference between the three groups as regard number of patients on Hydroxyurea treatment (76% among homozygous sickle cell patients, 67% among Sβ0 and 75% among Sβ +patients.
Conclusion
the presence and the nature of associated β-thalassaemia mutations influences the clinical presentation of sickle cell disease.
Session topic: E-poster
Keyword(s): Genotype, Phenotype, Sickle cell disease
Abstract: PB2128
Type: Publication Only
Background
Sickle cell disease (SCD) refers to all different genotypes that cause this clinical syndrome, yet secondary effectors genes are likely to modulate its phenotype.
Aims
This study aimed to evaluate genotype variation and allele segregation among SCD patients and its relation to the different clinical presentations.
Methods
This cross-sectional study included 38 SCD patients. Genotyping for beta thalassemia gene(BT) mutations was performed using polymerase chain reaction (PCR) and reverse hybridization. Assessment of genotype relation to phenotype was based on: Onset of the disease, transfusion history, baseline MCV, HbF%, frequency of pain episodes, and hospitalization, percentage of patients who suffered from acute chest syndrome, stroke and avascular necrosis, sickling score, echocardiographic, carotid doppler findings
Results
The most common BT gene mutation among SCD patients was Codon 6[A>T] HbS / β̊ IVS1-1[G>A] (18%), then Codon 6[A>T] HbS / β+ IVS1-110[G>A] (8%). 55% of the patients were diagnosed by baseline Hb electrophoresis as Sβ+. Only 52% of sickle cell disease patients by genotype had MVC normal and 72 % had HbA2 <3.6%. Eighty eight% of Sβ 0patients by genotype had low MCV, while half of Sβ +patients had HbA2 >5%. Although, we found a higher baseline Hb S% and a lower Hb F% among homozygous sickle cell patients compared with the 2 other groups, yet the results did not reach statistical significance Homozygous SCD patients had a significantly earlier age of onset, a higher baseline MCV and a lower HbF % compared with Sβ0 and Sβ+ patients, but a comparable baseline markers of hemolysis. Eighty percent of our studied Sickle cell patients had acute painful episodes, 18% suffered from at least one attack of acute chest syndrome, 5.3% had avascular necrosis of femur 15.8% had single episode of stroke while 6% had cardiac morbidity, 13% had impaired left ventricular contractility, (8%) had cardiomyopathy, none had pulmonary hypertension, and all had normal transcranial Doppler. We did not find significant difference between all 3 groups as regard the frequency of painful Crises, the need for hospitalization, the percentage of patients with avascular necrosis, cerebral stroke, acute Chest Syndrome and the sickling score. Causes for transfusion varied among different groups, the most common cause in homozygous sickle cell disease and sickle β0 patients was painful crises and stroke (36%&20%), while in sickle β+ thalassemia patients, the only cause was anemia(100%).This variation was not statistically significant, and all 3 groups had comparable mean pretransfusion Hb level, number of transfusion, transfusion requirement. Moreover, we did not find significant difference between the three groups as regard number of patients on Hydroxyurea treatment (76% among homozygous sickle cell patients, 67% among Sβ0 and 75% among Sβ +patients.
Conclusion
the presence and the nature of associated β-thalassaemia mutations influences the clinical presentation of sickle cell disease.
Session topic: E-poster
Keyword(s): Genotype, Phenotype, Sickle cell disease
Type: Publication Only
Background
Sickle cell disease (SCD) refers to all different genotypes that cause this clinical syndrome, yet secondary effectors genes are likely to modulate its phenotype.
Aims
This study aimed to evaluate genotype variation and allele segregation among SCD patients and its relation to the different clinical presentations.
Methods
This cross-sectional study included 38 SCD patients. Genotyping for beta thalassemia gene(BT) mutations was performed using polymerase chain reaction (PCR) and reverse hybridization. Assessment of genotype relation to phenotype was based on: Onset of the disease, transfusion history, baseline MCV, HbF%, frequency of pain episodes, and hospitalization, percentage of patients who suffered from acute chest syndrome, stroke and avascular necrosis, sickling score, echocardiographic, carotid doppler findings
Results
The most common BT gene mutation among SCD patients was Codon 6[A>T] HbS / β̊ IVS1-1[G>A] (18%), then Codon 6[A>T] HbS / β+ IVS1-110[G>A] (8%). 55% of the patients were diagnosed by baseline Hb electrophoresis as Sβ+. Only 52% of sickle cell disease patients by genotype had MVC normal and 72 % had HbA2 <3.6%. Eighty eight% of Sβ 0patients by genotype had low MCV, while half of Sβ +patients had HbA2 >5%. Although, we found a higher baseline Hb S% and a lower Hb F% among homozygous sickle cell patients compared with the 2 other groups, yet the results did not reach statistical significance Homozygous SCD patients had a significantly earlier age of onset, a higher baseline MCV and a lower HbF % compared with Sβ0 and Sβ+ patients, but a comparable baseline markers of hemolysis. Eighty percent of our studied Sickle cell patients had acute painful episodes, 18% suffered from at least one attack of acute chest syndrome, 5.3% had avascular necrosis of femur 15.8% had single episode of stroke while 6% had cardiac morbidity, 13% had impaired left ventricular contractility, (8%) had cardiomyopathy, none had pulmonary hypertension, and all had normal transcranial Doppler. We did not find significant difference between all 3 groups as regard the frequency of painful Crises, the need for hospitalization, the percentage of patients with avascular necrosis, cerebral stroke, acute Chest Syndrome and the sickling score. Causes for transfusion varied among different groups, the most common cause in homozygous sickle cell disease and sickle β0 patients was painful crises and stroke (36%&20%), while in sickle β+ thalassemia patients, the only cause was anemia(100%).This variation was not statistically significant, and all 3 groups had comparable mean pretransfusion Hb level, number of transfusion, transfusion requirement. Moreover, we did not find significant difference between the three groups as regard number of patients on Hydroxyurea treatment (76% among homozygous sickle cell patients, 67% among Sβ0 and 75% among Sβ +patients.
Conclusion
the presence and the nature of associated β-thalassaemia mutations influences the clinical presentation of sickle cell disease.
Session topic: E-poster
Keyword(s): Genotype, Phenotype, Sickle cell disease
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