THE ETHNIC DIFFERENCE IN RBC-RELATED INDICES BETWEEN KOREAN AND UAE AND THE MUTATION PROFILE IN THALASSEMIA OF UAE: ONE-YEAR EXPERIENCE IN UAE AS THE KOREAN PHYSICIANS
(Abstract release date: 05/19/16)
EHA Library. Lee H. 06/09/16; 134967; PB2067
Dr. Hye Ryun Lee
Contributions
Contributions
Abstract
Abstract: PB2067
Type: Publication Only
Background
Sheikh Khalifa Specialty Hospital (SKSH) of the United Arab Emirates (UAE) has been operating by Seoul National University Hospital of the Korea since February 2015. The rules of three [3 x red blood cells (RBC) = Hemoglobin (Hb), 3 x Hb = hematocrit (Hct)] has been used to evaluate RBC-related indices of patient samples. We empirically found out that Arab patients are showing the discrepancy in these ratios due to relatively low mean corpuscular volume (MCV) in comparison with Korean patients, although they are in the non-anemic state. Also, regarding the thalassemia, characterized by the microcytosis, the prevalence of thalassemia in Korea is much lower than those in UAE. Therefore, the microcytic feature of UAE patients and thalassemia have been the unique experiences to Korean physicians.
Aims
First, we analyzed the RBC-related indices of different ethnic groups (Korean vs. Arab) and adult patients showing microcytic anemia, such as iron-deficiency anemia (IDA) and thalassemia. Second, we reported the mutation profile showing in thalassemia that diagnosed in our hospital during one-year.
Methods
We collected the additional blood sample for the complete blood cell (CBC) count from the SKSH staff who received a medical check-up and gave written consent to the study. Among the data obtained, we selected data from Korean and Arab staff who were in the non-anemic state according to the WHO criteria (Hb ≥ 13 g/dL in male and Hb ≥ 12 g/dL in female). RBC indices, such as the MCV, mean corpuscular hemoglobin (MCH), and mean corpuscular hemoglobin concentration (MCHC), were measured. We also retrieved the CBC data from the IDA patients showing the ferritin level of lower than 10 ng/mL, and from the patients diagnosed as thalassemia through the Hb electrophoresis or HBA1/HBA2 and HBB gene analysis.
Results
The data from 48 Korean staff, 53 Arab staff, 69 IDA patients, and 21 thalassemia patients were enrolled. The RBC-related indices are following according to the groups; MCV, 92.2±3.5 fL (range, 85.3-102.0 fL), 86.9±4.2 fL (73.7-94.4 fL), 72.0±7.1 fL (58.1-90.0 fL), 70.4±5.5 fL (61.1-82.5 fL), respectively; MCH, 30.8±1.4 pg, 28.2±1.9 pg, 21.3±3.3 pg, 21.6±2.5 pg, respectively; MCHC, 33.4±1.1 g/dL, 32.5±1.2 g/dL, 29.3±2.4 g/dL, 30.5±1.5 g/dL, respectively. The MCV, MCH, and MCHC of Korean are significantly higher than those of Arab (P < 0.001, P < 0.001, P = 0.001, respectively). There are no significant differences in RBC-related indices between IDA and thalassemia patients in our study. For mutation profile of thalassemia, we analyzed total 22 adult and children thalassemia patients confirmed by gene analysis. Among 22 patients, 12 were α-thalassemia, seven were β-thalassemia, two were diagnosed with both α- and β-thalassemia, and one was diagnosed with both α-thalassemia and sickle cell anemia. The most common α-thalassemia was α+-thalassemia trait due to 3.7-kb and deletion of HBA1/HBA2 gene (7/14, 50.0%) and the most common mutation of β-thalassemia was c.92+5G>C mutation of HBB gene (5/9, 55.6%). Distinctively, the homozygous or heterozygous c.1-?_429+?del in the HBA2 gene were detected in four α-thalassemia patients, which has not been reported previously.
Conclusion
There is the difference in the RBC size between Korean and Arab. We found out the unique deletion mutation of alpha-thalassemia. This is the report by one-year experience in UAE as Korean physicians. We expected to report the characteristics of RBC size and thalassemia mutation profile in UAE with accumulated experience in the future.
Session topic: E-poster
Keyword(s): Ethnicity, Mutation analysis, Red blood cell, Thalassemia
Type: Publication Only
Background
Sheikh Khalifa Specialty Hospital (SKSH) of the United Arab Emirates (UAE) has been operating by Seoul National University Hospital of the Korea since February 2015. The rules of three [3 x red blood cells (RBC) = Hemoglobin (Hb), 3 x Hb = hematocrit (Hct)] has been used to evaluate RBC-related indices of patient samples. We empirically found out that Arab patients are showing the discrepancy in these ratios due to relatively low mean corpuscular volume (MCV) in comparison with Korean patients, although they are in the non-anemic state. Also, regarding the thalassemia, characterized by the microcytosis, the prevalence of thalassemia in Korea is much lower than those in UAE. Therefore, the microcytic feature of UAE patients and thalassemia have been the unique experiences to Korean physicians.
Aims
First, we analyzed the RBC-related indices of different ethnic groups (Korean vs. Arab) and adult patients showing microcytic anemia, such as iron-deficiency anemia (IDA) and thalassemia. Second, we reported the mutation profile showing in thalassemia that diagnosed in our hospital during one-year.
Methods
We collected the additional blood sample for the complete blood cell (CBC) count from the SKSH staff who received a medical check-up and gave written consent to the study. Among the data obtained, we selected data from Korean and Arab staff who were in the non-anemic state according to the WHO criteria (Hb ≥ 13 g/dL in male and Hb ≥ 12 g/dL in female). RBC indices, such as the MCV, mean corpuscular hemoglobin (MCH), and mean corpuscular hemoglobin concentration (MCHC), were measured. We also retrieved the CBC data from the IDA patients showing the ferritin level of lower than 10 ng/mL, and from the patients diagnosed as thalassemia through the Hb electrophoresis or HBA1/HBA2 and HBB gene analysis.
Results
The data from 48 Korean staff, 53 Arab staff, 69 IDA patients, and 21 thalassemia patients were enrolled. The RBC-related indices are following according to the groups; MCV, 92.2±3.5 fL (range, 85.3-102.0 fL), 86.9±4.2 fL (73.7-94.4 fL), 72.0±7.1 fL (58.1-90.0 fL), 70.4±5.5 fL (61.1-82.5 fL), respectively; MCH, 30.8±1.4 pg, 28.2±1.9 pg, 21.3±3.3 pg, 21.6±2.5 pg, respectively; MCHC, 33.4±1.1 g/dL, 32.5±1.2 g/dL, 29.3±2.4 g/dL, 30.5±1.5 g/dL, respectively. The MCV, MCH, and MCHC of Korean are significantly higher than those of Arab (P < 0.001, P < 0.001, P = 0.001, respectively). There are no significant differences in RBC-related indices between IDA and thalassemia patients in our study. For mutation profile of thalassemia, we analyzed total 22 adult and children thalassemia patients confirmed by gene analysis. Among 22 patients, 12 were α-thalassemia, seven were β-thalassemia, two were diagnosed with both α- and β-thalassemia, and one was diagnosed with both α-thalassemia and sickle cell anemia. The most common α-thalassemia was α+-thalassemia trait due to 3.7-kb and deletion of HBA1/HBA2 gene (7/14, 50.0%) and the most common mutation of β-thalassemia was c.92+5G>C mutation of HBB gene (5/9, 55.6%). Distinctively, the homozygous or heterozygous c.1-?_429+?del in the HBA2 gene were detected in four α-thalassemia patients, which has not been reported previously.
Conclusion
There is the difference in the RBC size between Korean and Arab. We found out the unique deletion mutation of alpha-thalassemia. This is the report by one-year experience in UAE as Korean physicians. We expected to report the characteristics of RBC size and thalassemia mutation profile in UAE with accumulated experience in the future.
Session topic: E-poster
Keyword(s): Ethnicity, Mutation analysis, Red blood cell, Thalassemia
Abstract: PB2067
Type: Publication Only
Background
Sheikh Khalifa Specialty Hospital (SKSH) of the United Arab Emirates (UAE) has been operating by Seoul National University Hospital of the Korea since February 2015. The rules of three [3 x red blood cells (RBC) = Hemoglobin (Hb), 3 x Hb = hematocrit (Hct)] has been used to evaluate RBC-related indices of patient samples. We empirically found out that Arab patients are showing the discrepancy in these ratios due to relatively low mean corpuscular volume (MCV) in comparison with Korean patients, although they are in the non-anemic state. Also, regarding the thalassemia, characterized by the microcytosis, the prevalence of thalassemia in Korea is much lower than those in UAE. Therefore, the microcytic feature of UAE patients and thalassemia have been the unique experiences to Korean physicians.
Aims
First, we analyzed the RBC-related indices of different ethnic groups (Korean vs. Arab) and adult patients showing microcytic anemia, such as iron-deficiency anemia (IDA) and thalassemia. Second, we reported the mutation profile showing in thalassemia that diagnosed in our hospital during one-year.
Methods
We collected the additional blood sample for the complete blood cell (CBC) count from the SKSH staff who received a medical check-up and gave written consent to the study. Among the data obtained, we selected data from Korean and Arab staff who were in the non-anemic state according to the WHO criteria (Hb ≥ 13 g/dL in male and Hb ≥ 12 g/dL in female). RBC indices, such as the MCV, mean corpuscular hemoglobin (MCH), and mean corpuscular hemoglobin concentration (MCHC), were measured. We also retrieved the CBC data from the IDA patients showing the ferritin level of lower than 10 ng/mL, and from the patients diagnosed as thalassemia through the Hb electrophoresis or HBA1/HBA2 and HBB gene analysis.
Results
The data from 48 Korean staff, 53 Arab staff, 69 IDA patients, and 21 thalassemia patients were enrolled. The RBC-related indices are following according to the groups; MCV, 92.2±3.5 fL (range, 85.3-102.0 fL), 86.9±4.2 fL (73.7-94.4 fL), 72.0±7.1 fL (58.1-90.0 fL), 70.4±5.5 fL (61.1-82.5 fL), respectively; MCH, 30.8±1.4 pg, 28.2±1.9 pg, 21.3±3.3 pg, 21.6±2.5 pg, respectively; MCHC, 33.4±1.1 g/dL, 32.5±1.2 g/dL, 29.3±2.4 g/dL, 30.5±1.5 g/dL, respectively. The MCV, MCH, and MCHC of Korean are significantly higher than those of Arab (P < 0.001, P < 0.001, P = 0.001, respectively). There are no significant differences in RBC-related indices between IDA and thalassemia patients in our study. For mutation profile of thalassemia, we analyzed total 22 adult and children thalassemia patients confirmed by gene analysis. Among 22 patients, 12 were α-thalassemia, seven were β-thalassemia, two were diagnosed with both α- and β-thalassemia, and one was diagnosed with both α-thalassemia and sickle cell anemia. The most common α-thalassemia was α+-thalassemia trait due to 3.7-kb and deletion of HBA1/HBA2 gene (7/14, 50.0%) and the most common mutation of β-thalassemia was c.92+5G>C mutation of HBB gene (5/9, 55.6%). Distinctively, the homozygous or heterozygous c.1-?_429+?del in the HBA2 gene were detected in four α-thalassemia patients, which has not been reported previously.
Conclusion
There is the difference in the RBC size between Korean and Arab. We found out the unique deletion mutation of alpha-thalassemia. This is the report by one-year experience in UAE as Korean physicians. We expected to report the characteristics of RBC size and thalassemia mutation profile in UAE with accumulated experience in the future.
Session topic: E-poster
Keyword(s): Ethnicity, Mutation analysis, Red blood cell, Thalassemia
Type: Publication Only
Background
Sheikh Khalifa Specialty Hospital (SKSH) of the United Arab Emirates (UAE) has been operating by Seoul National University Hospital of the Korea since February 2015. The rules of three [3 x red blood cells (RBC) = Hemoglobin (Hb), 3 x Hb = hematocrit (Hct)] has been used to evaluate RBC-related indices of patient samples. We empirically found out that Arab patients are showing the discrepancy in these ratios due to relatively low mean corpuscular volume (MCV) in comparison with Korean patients, although they are in the non-anemic state. Also, regarding the thalassemia, characterized by the microcytosis, the prevalence of thalassemia in Korea is much lower than those in UAE. Therefore, the microcytic feature of UAE patients and thalassemia have been the unique experiences to Korean physicians.
Aims
First, we analyzed the RBC-related indices of different ethnic groups (Korean vs. Arab) and adult patients showing microcytic anemia, such as iron-deficiency anemia (IDA) and thalassemia. Second, we reported the mutation profile showing in thalassemia that diagnosed in our hospital during one-year.
Methods
We collected the additional blood sample for the complete blood cell (CBC) count from the SKSH staff who received a medical check-up and gave written consent to the study. Among the data obtained, we selected data from Korean and Arab staff who were in the non-anemic state according to the WHO criteria (Hb ≥ 13 g/dL in male and Hb ≥ 12 g/dL in female). RBC indices, such as the MCV, mean corpuscular hemoglobin (MCH), and mean corpuscular hemoglobin concentration (MCHC), were measured. We also retrieved the CBC data from the IDA patients showing the ferritin level of lower than 10 ng/mL, and from the patients diagnosed as thalassemia through the Hb electrophoresis or HBA1/HBA2 and HBB gene analysis.
Results
The data from 48 Korean staff, 53 Arab staff, 69 IDA patients, and 21 thalassemia patients were enrolled. The RBC-related indices are following according to the groups; MCV, 92.2±3.5 fL (range, 85.3-102.0 fL), 86.9±4.2 fL (73.7-94.4 fL), 72.0±7.1 fL (58.1-90.0 fL), 70.4±5.5 fL (61.1-82.5 fL), respectively; MCH, 30.8±1.4 pg, 28.2±1.9 pg, 21.3±3.3 pg, 21.6±2.5 pg, respectively; MCHC, 33.4±1.1 g/dL, 32.5±1.2 g/dL, 29.3±2.4 g/dL, 30.5±1.5 g/dL, respectively. The MCV, MCH, and MCHC of Korean are significantly higher than those of Arab (P < 0.001, P < 0.001, P = 0.001, respectively). There are no significant differences in RBC-related indices between IDA and thalassemia patients in our study. For mutation profile of thalassemia, we analyzed total 22 adult and children thalassemia patients confirmed by gene analysis. Among 22 patients, 12 were α-thalassemia, seven were β-thalassemia, two were diagnosed with both α- and β-thalassemia, and one was diagnosed with both α-thalassemia and sickle cell anemia. The most common α-thalassemia was α+-thalassemia trait due to 3.7-kb and deletion of HBA1/HBA2 gene (7/14, 50.0%) and the most common mutation of β-thalassemia was c.92+5G>C mutation of HBB gene (5/9, 55.6%). Distinctively, the homozygous or heterozygous c.1-?_429+?del in the HBA2 gene were detected in four α-thalassemia patients, which has not been reported previously.
Conclusion
There is the difference in the RBC size between Korean and Arab. We found out the unique deletion mutation of alpha-thalassemia. This is the report by one-year experience in UAE as Korean physicians. We expected to report the characteristics of RBC size and thalassemia mutation profile in UAE with accumulated experience in the future.
Session topic: E-poster
Keyword(s): Ethnicity, Mutation analysis, Red blood cell, Thalassemia
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