Krüppel-like factor 1 mutations and expression of hemoglobins F and $ A_{2} $ in homozygous hemoglobin E syndrome
Abstract The basis for variability of hemoglobin (Hb) F in homozygous Hb E disease is not well understood. We have examined multiple mutations of the Krüppel-like factor 1 (KLF1) gene; an erythroid specific transcription factor and determined their associations with Hbs F and $ A_{2} $ expression in...
Ausführliche Beschreibung
Autor*in: |
Tepakhan, Wanicha [verfasserIn] |
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E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2015 |
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Anmerkung: |
© Springer-Verlag Berlin Heidelberg 2015 |
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Übergeordnetes Werk: |
Enthalten in: Annals of hematology - Berlin : Springer, 1955, 94(2015), 7 vom: 20. Feb., Seite 1093-1098 |
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Übergeordnetes Werk: |
volume:94 ; year:2015 ; number:7 ; day:20 ; month:02 ; pages:1093-1098 |
Links: |
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DOI / URN: |
10.1007/s00277-015-2335-x |
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Katalog-ID: |
SPR003898458 |
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100 | 1 | |a Tepakhan, Wanicha |e verfasserin |4 aut | |
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264 | 1 | |c 2015 | |
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520 | |a Abstract The basis for variability of hemoglobin (Hb) F in homozygous Hb E disease is not well understood. We have examined multiple mutations of the Krüppel-like factor 1 (KLF1) gene; an erythroid specific transcription factor and determined their associations with Hbs F and $ A_{2} $ expression in homozygous Hb E. Four KLF1 mutations including G176AfsX179, T334R, R238H, and −154 (C-T) were screened using specific PCR assays on 461 subjects with homozygous Hb E and 100 normal controls. None of these four mutations were observed in 100 normal controls. Among 461 subjects with homozygous Hb E, 306 had high (≥5 %) and 155 had low (<5 %) Hb F. DNA analysis identified the KLF1 mutations in 35 cases of the former group with high Hb F, including the G176AfsX179 mutation (17/306 = 5.6 %), T334R mutation (9/306 = 2.9 %), −154 (C-T) mutation (7/306 = 2.3 %), and R328H mutation (2/306 = 0.7 %). Only two subjects in the latter group with low Hb F carried the G176AfsX179 and −154 (C-T) mutations. Significant higher Hb $ A_{2} $ level was observed in those of homozygous Hb E with the G176AfsX179 mutation as compared to those without KLF1 mutations. These results indicate that KLF1 is among the genetic factors associated with increased Hbs F and $ A_{2} $, and in combination with other factors could explain the variabilities of these Hb expression in Hb E syndrome. | ||
650 | 4 | |a Homozygous hemoglobin E |7 (dpeaa)DE-He213 | |
650 | 4 | |a Hemoglobin F |7 (dpeaa)DE-He213 | |
650 | 4 | |a Hemoglobin A |7 (dpeaa)DE-He213 | |
650 | 4 | |a KLF1 mutations |7 (dpeaa)DE-He213 | |
700 | 1 | |a Yamsri, Supawadee |4 aut | |
700 | 1 | |a Fucharoen, Goonnapa |4 aut | |
700 | 1 | |a Sanchaisuriya, Kanokwan |4 aut | |
700 | 1 | |a Fucharoen, Supan |4 aut | |
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10.1007/s00277-015-2335-x doi (DE-627)SPR003898458 (SPR)s00277-015-2335-x-e DE-627 ger DE-627 rakwb eng Tepakhan, Wanicha verfasserin aut Krüppel-like factor 1 mutations and expression of hemoglobins F and $ A_{2} $ in homozygous hemoglobin E syndrome 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Springer-Verlag Berlin Heidelberg 2015 Abstract The basis for variability of hemoglobin (Hb) F in homozygous Hb E disease is not well understood. We have examined multiple mutations of the Krüppel-like factor 1 (KLF1) gene; an erythroid specific transcription factor and determined their associations with Hbs F and $ A_{2} $ expression in homozygous Hb E. Four KLF1 mutations including G176AfsX179, T334R, R238H, and −154 (C-T) were screened using specific PCR assays on 461 subjects with homozygous Hb E and 100 normal controls. None of these four mutations were observed in 100 normal controls. Among 461 subjects with homozygous Hb E, 306 had high (≥5 %) and 155 had low (<5 %) Hb F. DNA analysis identified the KLF1 mutations in 35 cases of the former group with high Hb F, including the G176AfsX179 mutation (17/306 = 5.6 %), T334R mutation (9/306 = 2.9 %), −154 (C-T) mutation (7/306 = 2.3 %), and R328H mutation (2/306 = 0.7 %). Only two subjects in the latter group with low Hb F carried the G176AfsX179 and −154 (C-T) mutations. Significant higher Hb $ A_{2} $ level was observed in those of homozygous Hb E with the G176AfsX179 mutation as compared to those without KLF1 mutations. These results indicate that KLF1 is among the genetic factors associated with increased Hbs F and $ A_{2} $, and in combination with other factors could explain the variabilities of these Hb expression in Hb E syndrome. Homozygous hemoglobin E (dpeaa)DE-He213 Hemoglobin F (dpeaa)DE-He213 Hemoglobin A (dpeaa)DE-He213 KLF1 mutations (dpeaa)DE-He213 Yamsri, Supawadee aut Fucharoen, Goonnapa aut Sanchaisuriya, Kanokwan aut Fucharoen, Supan aut Enthalten in Annals of hematology Berlin : Springer, 1955 94(2015), 7 vom: 20. Feb., Seite 1093-1098 (DE-627)253389852 (DE-600)1458429-3 1432-0584 nnns volume:94 year:2015 number:7 day:20 month:02 pages:1093-1098 https://dx.doi.org/10.1007/s00277-015-2335-x lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2424 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 94 2015 7 20 02 1093-1098 |
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10.1007/s00277-015-2335-x doi (DE-627)SPR003898458 (SPR)s00277-015-2335-x-e DE-627 ger DE-627 rakwb eng Tepakhan, Wanicha verfasserin aut Krüppel-like factor 1 mutations and expression of hemoglobins F and $ A_{2} $ in homozygous hemoglobin E syndrome 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Springer-Verlag Berlin Heidelberg 2015 Abstract The basis for variability of hemoglobin (Hb) F in homozygous Hb E disease is not well understood. We have examined multiple mutations of the Krüppel-like factor 1 (KLF1) gene; an erythroid specific transcription factor and determined their associations with Hbs F and $ A_{2} $ expression in homozygous Hb E. Four KLF1 mutations including G176AfsX179, T334R, R238H, and −154 (C-T) were screened using specific PCR assays on 461 subjects with homozygous Hb E and 100 normal controls. None of these four mutations were observed in 100 normal controls. Among 461 subjects with homozygous Hb E, 306 had high (≥5 %) and 155 had low (<5 %) Hb F. DNA analysis identified the KLF1 mutations in 35 cases of the former group with high Hb F, including the G176AfsX179 mutation (17/306 = 5.6 %), T334R mutation (9/306 = 2.9 %), −154 (C-T) mutation (7/306 = 2.3 %), and R328H mutation (2/306 = 0.7 %). Only two subjects in the latter group with low Hb F carried the G176AfsX179 and −154 (C-T) mutations. Significant higher Hb $ A_{2} $ level was observed in those of homozygous Hb E with the G176AfsX179 mutation as compared to those without KLF1 mutations. These results indicate that KLF1 is among the genetic factors associated with increased Hbs F and $ A_{2} $, and in combination with other factors could explain the variabilities of these Hb expression in Hb E syndrome. Homozygous hemoglobin E (dpeaa)DE-He213 Hemoglobin F (dpeaa)DE-He213 Hemoglobin A (dpeaa)DE-He213 KLF1 mutations (dpeaa)DE-He213 Yamsri, Supawadee aut Fucharoen, Goonnapa aut Sanchaisuriya, Kanokwan aut Fucharoen, Supan aut Enthalten in Annals of hematology Berlin : Springer, 1955 94(2015), 7 vom: 20. Feb., Seite 1093-1098 (DE-627)253389852 (DE-600)1458429-3 1432-0584 nnns volume:94 year:2015 number:7 day:20 month:02 pages:1093-1098 https://dx.doi.org/10.1007/s00277-015-2335-x lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2424 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 94 2015 7 20 02 1093-1098 |
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10.1007/s00277-015-2335-x doi (DE-627)SPR003898458 (SPR)s00277-015-2335-x-e DE-627 ger DE-627 rakwb eng Tepakhan, Wanicha verfasserin aut Krüppel-like factor 1 mutations and expression of hemoglobins F and $ A_{2} $ in homozygous hemoglobin E syndrome 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Springer-Verlag Berlin Heidelberg 2015 Abstract The basis for variability of hemoglobin (Hb) F in homozygous Hb E disease is not well understood. We have examined multiple mutations of the Krüppel-like factor 1 (KLF1) gene; an erythroid specific transcription factor and determined their associations with Hbs F and $ A_{2} $ expression in homozygous Hb E. Four KLF1 mutations including G176AfsX179, T334R, R238H, and −154 (C-T) were screened using specific PCR assays on 461 subjects with homozygous Hb E and 100 normal controls. None of these four mutations were observed in 100 normal controls. Among 461 subjects with homozygous Hb E, 306 had high (≥5 %) and 155 had low (<5 %) Hb F. DNA analysis identified the KLF1 mutations in 35 cases of the former group with high Hb F, including the G176AfsX179 mutation (17/306 = 5.6 %), T334R mutation (9/306 = 2.9 %), −154 (C-T) mutation (7/306 = 2.3 %), and R328H mutation (2/306 = 0.7 %). Only two subjects in the latter group with low Hb F carried the G176AfsX179 and −154 (C-T) mutations. Significant higher Hb $ A_{2} $ level was observed in those of homozygous Hb E with the G176AfsX179 mutation as compared to those without KLF1 mutations. These results indicate that KLF1 is among the genetic factors associated with increased Hbs F and $ A_{2} $, and in combination with other factors could explain the variabilities of these Hb expression in Hb E syndrome. Homozygous hemoglobin E (dpeaa)DE-He213 Hemoglobin F (dpeaa)DE-He213 Hemoglobin A (dpeaa)DE-He213 KLF1 mutations (dpeaa)DE-He213 Yamsri, Supawadee aut Fucharoen, Goonnapa aut Sanchaisuriya, Kanokwan aut Fucharoen, Supan aut Enthalten in Annals of hematology Berlin : Springer, 1955 94(2015), 7 vom: 20. Feb., Seite 1093-1098 (DE-627)253389852 (DE-600)1458429-3 1432-0584 nnns volume:94 year:2015 number:7 day:20 month:02 pages:1093-1098 https://dx.doi.org/10.1007/s00277-015-2335-x lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2424 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 94 2015 7 20 02 1093-1098 |
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10.1007/s00277-015-2335-x doi (DE-627)SPR003898458 (SPR)s00277-015-2335-x-e DE-627 ger DE-627 rakwb eng Tepakhan, Wanicha verfasserin aut Krüppel-like factor 1 mutations and expression of hemoglobins F and $ A_{2} $ in homozygous hemoglobin E syndrome 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Springer-Verlag Berlin Heidelberg 2015 Abstract The basis for variability of hemoglobin (Hb) F in homozygous Hb E disease is not well understood. We have examined multiple mutations of the Krüppel-like factor 1 (KLF1) gene; an erythroid specific transcription factor and determined their associations with Hbs F and $ A_{2} $ expression in homozygous Hb E. Four KLF1 mutations including G176AfsX179, T334R, R238H, and −154 (C-T) were screened using specific PCR assays on 461 subjects with homozygous Hb E and 100 normal controls. None of these four mutations were observed in 100 normal controls. Among 461 subjects with homozygous Hb E, 306 had high (≥5 %) and 155 had low (<5 %) Hb F. DNA analysis identified the KLF1 mutations in 35 cases of the former group with high Hb F, including the G176AfsX179 mutation (17/306 = 5.6 %), T334R mutation (9/306 = 2.9 %), −154 (C-T) mutation (7/306 = 2.3 %), and R328H mutation (2/306 = 0.7 %). Only two subjects in the latter group with low Hb F carried the G176AfsX179 and −154 (C-T) mutations. Significant higher Hb $ A_{2} $ level was observed in those of homozygous Hb E with the G176AfsX179 mutation as compared to those without KLF1 mutations. These results indicate that KLF1 is among the genetic factors associated with increased Hbs F and $ A_{2} $, and in combination with other factors could explain the variabilities of these Hb expression in Hb E syndrome. Homozygous hemoglobin E (dpeaa)DE-He213 Hemoglobin F (dpeaa)DE-He213 Hemoglobin A (dpeaa)DE-He213 KLF1 mutations (dpeaa)DE-He213 Yamsri, Supawadee aut Fucharoen, Goonnapa aut Sanchaisuriya, Kanokwan aut Fucharoen, Supan aut Enthalten in Annals of hematology Berlin : Springer, 1955 94(2015), 7 vom: 20. Feb., Seite 1093-1098 (DE-627)253389852 (DE-600)1458429-3 1432-0584 nnns volume:94 year:2015 number:7 day:20 month:02 pages:1093-1098 https://dx.doi.org/10.1007/s00277-015-2335-x lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2424 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 94 2015 7 20 02 1093-1098 |
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10.1007/s00277-015-2335-x doi (DE-627)SPR003898458 (SPR)s00277-015-2335-x-e DE-627 ger DE-627 rakwb eng Tepakhan, Wanicha verfasserin aut Krüppel-like factor 1 mutations and expression of hemoglobins F and $ A_{2} $ in homozygous hemoglobin E syndrome 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Springer-Verlag Berlin Heidelberg 2015 Abstract The basis for variability of hemoglobin (Hb) F in homozygous Hb E disease is not well understood. We have examined multiple mutations of the Krüppel-like factor 1 (KLF1) gene; an erythroid specific transcription factor and determined their associations with Hbs F and $ A_{2} $ expression in homozygous Hb E. Four KLF1 mutations including G176AfsX179, T334R, R238H, and −154 (C-T) were screened using specific PCR assays on 461 subjects with homozygous Hb E and 100 normal controls. None of these four mutations were observed in 100 normal controls. Among 461 subjects with homozygous Hb E, 306 had high (≥5 %) and 155 had low (<5 %) Hb F. DNA analysis identified the KLF1 mutations in 35 cases of the former group with high Hb F, including the G176AfsX179 mutation (17/306 = 5.6 %), T334R mutation (9/306 = 2.9 %), −154 (C-T) mutation (7/306 = 2.3 %), and R328H mutation (2/306 = 0.7 %). Only two subjects in the latter group with low Hb F carried the G176AfsX179 and −154 (C-T) mutations. Significant higher Hb $ A_{2} $ level was observed in those of homozygous Hb E with the G176AfsX179 mutation as compared to those without KLF1 mutations. These results indicate that KLF1 is among the genetic factors associated with increased Hbs F and $ A_{2} $, and in combination with other factors could explain the variabilities of these Hb expression in Hb E syndrome. Homozygous hemoglobin E (dpeaa)DE-He213 Hemoglobin F (dpeaa)DE-He213 Hemoglobin A (dpeaa)DE-He213 KLF1 mutations (dpeaa)DE-He213 Yamsri, Supawadee aut Fucharoen, Goonnapa aut Sanchaisuriya, Kanokwan aut Fucharoen, Supan aut Enthalten in Annals of hematology Berlin : Springer, 1955 94(2015), 7 vom: 20. Feb., Seite 1093-1098 (DE-627)253389852 (DE-600)1458429-3 1432-0584 nnns volume:94 year:2015 number:7 day:20 month:02 pages:1093-1098 https://dx.doi.org/10.1007/s00277-015-2335-x lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2424 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 94 2015 7 20 02 1093-1098 |
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Enthalten in Annals of hematology 94(2015), 7 vom: 20. Feb., Seite 1093-1098 volume:94 year:2015 number:7 day:20 month:02 pages:1093-1098 |
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Enthalten in Annals of hematology 94(2015), 7 vom: 20. Feb., Seite 1093-1098 volume:94 year:2015 number:7 day:20 month:02 pages:1093-1098 |
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Homozygous hemoglobin E Hemoglobin F Hemoglobin A KLF1 mutations |
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Tepakhan, Wanicha @@aut@@ Yamsri, Supawadee @@aut@@ Fucharoen, Goonnapa @@aut@@ Sanchaisuriya, Kanokwan @@aut@@ Fucharoen, Supan @@aut@@ |
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We have examined multiple mutations of the Krüppel-like factor 1 (KLF1) gene; an erythroid specific transcription factor and determined their associations with Hbs F and $ A_{2} $ expression in homozygous Hb E. Four KLF1 mutations including G176AfsX179, T334R, R238H, and −154 (C-T) were screened using specific PCR assays on 461 subjects with homozygous Hb E and 100 normal controls. None of these four mutations were observed in 100 normal controls. Among 461 subjects with homozygous Hb E, 306 had high (≥5 %) and 155 had low (<5 %) Hb F. DNA analysis identified the KLF1 mutations in 35 cases of the former group with high Hb F, including the G176AfsX179 mutation (17/306 = 5.6 %), T334R mutation (9/306 = 2.9 %), −154 (C-T) mutation (7/306 = 2.3 %), and R328H mutation (2/306 = 0.7 %). Only two subjects in the latter group with low Hb F carried the G176AfsX179 and −154 (C-T) mutations. Significant higher Hb $ A_{2} $ level was observed in those of homozygous Hb E with the G176AfsX179 mutation as compared to those without KLF1 mutations. These results indicate that KLF1 is among the genetic factors associated with increased Hbs F and $ A_{2} $, and in combination with other factors could explain the variabilities of these Hb expression in Hb E syndrome.</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Homozygous hemoglobin E</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Hemoglobin F</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Hemoglobin A</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">KLF1 mutations</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Yamsri, Supawadee</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Fucharoen, Goonnapa</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Sanchaisuriya, Kanokwan</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Fucharoen, Supan</subfield><subfield code="4">aut</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">Enthalten in</subfield><subfield code="t">Annals of hematology</subfield><subfield code="d">Berlin : Springer, 1955</subfield><subfield code="g">94(2015), 7 vom: 20. 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|
author |
Tepakhan, Wanicha |
spellingShingle |
Tepakhan, Wanicha misc Homozygous hemoglobin E misc Hemoglobin F misc Hemoglobin A misc KLF1 mutations Krüppel-like factor 1 mutations and expression of hemoglobins F and $ A_{2} $ in homozygous hemoglobin E syndrome |
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Tepakhan, Wanicha |
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Not Illustrated |
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1432-0584 |
topic_title |
Krüppel-like factor 1 mutations and expression of hemoglobins F and $ A_{2} $ in homozygous hemoglobin E syndrome Homozygous hemoglobin E (dpeaa)DE-He213 Hemoglobin F (dpeaa)DE-He213 Hemoglobin A (dpeaa)DE-He213 KLF1 mutations (dpeaa)DE-He213 |
topic |
misc Homozygous hemoglobin E misc Hemoglobin F misc Hemoglobin A misc KLF1 mutations |
topic_unstemmed |
misc Homozygous hemoglobin E misc Hemoglobin F misc Hemoglobin A misc KLF1 mutations |
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misc Homozygous hemoglobin E misc Hemoglobin F misc Hemoglobin A misc KLF1 mutations |
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Elektronische Aufsätze Aufsätze Elektronische Ressource |
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title |
Krüppel-like factor 1 mutations and expression of hemoglobins F and $ A_{2} $ in homozygous hemoglobin E syndrome |
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(DE-627)SPR003898458 (SPR)s00277-015-2335-x-e |
title_full |
Krüppel-like factor 1 mutations and expression of hemoglobins F and $ A_{2} $ in homozygous hemoglobin E syndrome |
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Tepakhan, Wanicha |
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Annals of hematology |
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Annals of hematology |
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eng |
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2015 |
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Tepakhan, Wanicha Yamsri, Supawadee Fucharoen, Goonnapa Sanchaisuriya, Kanokwan Fucharoen, Supan |
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94 |
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Elektronische Aufsätze |
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Tepakhan, Wanicha |
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10.1007/s00277-015-2335-x |
title_sort |
krüppel-like factor 1 mutations and expression of hemoglobins f and $ a_{2} $ in homozygous hemoglobin e syndrome |
title_auth |
Krüppel-like factor 1 mutations and expression of hemoglobins F and $ A_{2} $ in homozygous hemoglobin E syndrome |
abstract |
Abstract The basis for variability of hemoglobin (Hb) F in homozygous Hb E disease is not well understood. We have examined multiple mutations of the Krüppel-like factor 1 (KLF1) gene; an erythroid specific transcription factor and determined their associations with Hbs F and $ A_{2} $ expression in homozygous Hb E. Four KLF1 mutations including G176AfsX179, T334R, R238H, and −154 (C-T) were screened using specific PCR assays on 461 subjects with homozygous Hb E and 100 normal controls. None of these four mutations were observed in 100 normal controls. Among 461 subjects with homozygous Hb E, 306 had high (≥5 %) and 155 had low (<5 %) Hb F. DNA analysis identified the KLF1 mutations in 35 cases of the former group with high Hb F, including the G176AfsX179 mutation (17/306 = 5.6 %), T334R mutation (9/306 = 2.9 %), −154 (C-T) mutation (7/306 = 2.3 %), and R328H mutation (2/306 = 0.7 %). Only two subjects in the latter group with low Hb F carried the G176AfsX179 and −154 (C-T) mutations. Significant higher Hb $ A_{2} $ level was observed in those of homozygous Hb E with the G176AfsX179 mutation as compared to those without KLF1 mutations. These results indicate that KLF1 is among the genetic factors associated with increased Hbs F and $ A_{2} $, and in combination with other factors could explain the variabilities of these Hb expression in Hb E syndrome. © Springer-Verlag Berlin Heidelberg 2015 |
abstractGer |
Abstract The basis for variability of hemoglobin (Hb) F in homozygous Hb E disease is not well understood. We have examined multiple mutations of the Krüppel-like factor 1 (KLF1) gene; an erythroid specific transcription factor and determined their associations with Hbs F and $ A_{2} $ expression in homozygous Hb E. Four KLF1 mutations including G176AfsX179, T334R, R238H, and −154 (C-T) were screened using specific PCR assays on 461 subjects with homozygous Hb E and 100 normal controls. None of these four mutations were observed in 100 normal controls. Among 461 subjects with homozygous Hb E, 306 had high (≥5 %) and 155 had low (<5 %) Hb F. DNA analysis identified the KLF1 mutations in 35 cases of the former group with high Hb F, including the G176AfsX179 mutation (17/306 = 5.6 %), T334R mutation (9/306 = 2.9 %), −154 (C-T) mutation (7/306 = 2.3 %), and R328H mutation (2/306 = 0.7 %). Only two subjects in the latter group with low Hb F carried the G176AfsX179 and −154 (C-T) mutations. Significant higher Hb $ A_{2} $ level was observed in those of homozygous Hb E with the G176AfsX179 mutation as compared to those without KLF1 mutations. These results indicate that KLF1 is among the genetic factors associated with increased Hbs F and $ A_{2} $, and in combination with other factors could explain the variabilities of these Hb expression in Hb E syndrome. © Springer-Verlag Berlin Heidelberg 2015 |
abstract_unstemmed |
Abstract The basis for variability of hemoglobin (Hb) F in homozygous Hb E disease is not well understood. We have examined multiple mutations of the Krüppel-like factor 1 (KLF1) gene; an erythroid specific transcription factor and determined their associations with Hbs F and $ A_{2} $ expression in homozygous Hb E. Four KLF1 mutations including G176AfsX179, T334R, R238H, and −154 (C-T) were screened using specific PCR assays on 461 subjects with homozygous Hb E and 100 normal controls. None of these four mutations were observed in 100 normal controls. Among 461 subjects with homozygous Hb E, 306 had high (≥5 %) and 155 had low (<5 %) Hb F. DNA analysis identified the KLF1 mutations in 35 cases of the former group with high Hb F, including the G176AfsX179 mutation (17/306 = 5.6 %), T334R mutation (9/306 = 2.9 %), −154 (C-T) mutation (7/306 = 2.3 %), and R328H mutation (2/306 = 0.7 %). Only two subjects in the latter group with low Hb F carried the G176AfsX179 and −154 (C-T) mutations. Significant higher Hb $ A_{2} $ level was observed in those of homozygous Hb E with the G176AfsX179 mutation as compared to those without KLF1 mutations. These results indicate that KLF1 is among the genetic factors associated with increased Hbs F and $ A_{2} $, and in combination with other factors could explain the variabilities of these Hb expression in Hb E syndrome. © Springer-Verlag Berlin Heidelberg 2015 |
collection_details |
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container_issue |
7 |
title_short |
Krüppel-like factor 1 mutations and expression of hemoglobins F and $ A_{2} $ in homozygous hemoglobin E syndrome |
url |
https://dx.doi.org/10.1007/s00277-015-2335-x |
remote_bool |
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author2 |
Yamsri, Supawadee Fucharoen, Goonnapa Sanchaisuriya, Kanokwan Fucharoen, Supan |
author2Str |
Yamsri, Supawadee Fucharoen, Goonnapa Sanchaisuriya, Kanokwan Fucharoen, Supan |
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doi_str |
10.1007/s00277-015-2335-x |
up_date |
2024-07-03T22:23:10.717Z |
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score |
7.3987026 |