Significance of genetic modifiers of hemoglobinopathies leading towards precision medicine

Hemoglobinopathies though a monogenic disorder, show phenotypic variability. Hence, understanding the genetics underlying the heritable sub-phenotypes of hemoglobinopathies, specific to each population, would be prognostically useful and could inform personalized therapeutics. This study aimed to ev...

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Published inScientific reports Vol. 11; no. 1; p. 20906
Main Authors Hariharan, Priya, Gorivale, Manju, Sawant, Pratibha, Mehta, Pallavi, Nadkarni, Anita
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group UK 22.10.2021
Nature Publishing Group
Nature Portfolio
Subjects
631/208
631/337
692/4017
692/699
alpha-Thalassemia - genetics
Anemia, Sickle Cell - genetics
beta-Thalassemia - genetics
Blood diseases
Child
Child, Preschool
gamma-Globins - genetics
Genes, Modifier - genetics
Genetic Loci - genetics
Genetic Markers - genetics
Genetic variability
Genetics
Genotype
Hemoglobinopathies - genetics
Hemoglobinopathy
Homozygotes
Humanities and Social Sciences
Humans
multidisciplinary
Phenotype
Phenotypes
Polymorphism, Single Nucleotide - genetics
Precision medicine
Precision Medicine - methods
Promoter Regions, Genetic - genetics
Science
Science (multidisciplinary)
Sickle cell disease
Single-nucleotide polymorphism
Thalassemia
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Abstract Hemoglobinopathies though a monogenic disorder, show phenotypic variability. Hence, understanding the genetics underlying the heritable sub-phenotypes of hemoglobinopathies, specific to each population, would be prognostically useful and could inform personalized therapeutics. This study aimed to evaluate the role of genetic modifiers leading to higher HbF production with cumulative impact of the modifiers on disease severity. 200 patients (100 β-thalassemia homozygotes, 100 Sickle Cell Anemia), and 50 healthy controls were recruited. Primary screening followed with molecular analysis for confirming the β-hemoglobinopathy was performed. Co-existing α-thalassemia and the polymorphisms located in 3 genetic loci linked to HbF regulation were screened. The most remarkable result was the association of SNPs with clinically relevant phenotypic groups. The γ-globin gene promoter polymorphisms [− 158 C → T, + 25 G → A],BCL11A rs1427407 G → T, − 3 bp HBS1L-MYB rs66650371 and rs9399137 T → C polymorphisms were correlated with higher HbF, in group that has lower disease severity score (P < 0.00001), milder clinical presentation, and a significant delay in the age of the first transfusion. Our study emphasizes the complex genetic interactions underlying the disease phenotype that may be a prognostic marker for predicting the clinical severity and assist in disease management.
AbstractList Abstract Hemoglobinopathies though a monogenic disorder, show phenotypic variability. Hence, understanding the genetics underlying the heritable sub-phenotypes of hemoglobinopathies, specific to each population, would be prognostically useful and could inform personalized therapeutics. This study aimed to evaluate the role of genetic modifiers leading to higher HbF production with cumulative impact of the modifiers on disease severity. 200 patients (100 β-thalassemia homozygotes, 100 Sickle Cell Anemia), and 50 healthy controls were recruited. Primary screening followed with molecular analysis for confirming the β-hemoglobinopathy was performed. Co-existing α-thalassemia and the polymorphisms located in 3 genetic loci linked to HbF regulation were screened. The most remarkable result was the association of SNPs with clinically relevant phenotypic groups. The γ-globin gene promoter polymorphisms [− 158 C → T, + 25 G → A],BCL11A rs1427407 G → T, − 3 bp HBS1L-MYB rs66650371 and rs9399137 T → C polymorphisms were correlated with higher HbF, in group that has lower disease severity score (P < 0.00001), milder clinical presentation, and a significant delay in the age of the first transfusion. Our study emphasizes the complex genetic interactions underlying the disease phenotype that may be a prognostic marker for predicting the clinical severity and assist in disease management.
Abstract Hemoglobinopathies though a monogenic disorder, show phenotypic variability. Hence, understanding the genetics underlying the heritable sub-phenotypes of hemoglobinopathies, specific to each population, would be prognostically useful and could inform personalized therapeutics. This study aimed to evaluate the role of genetic modifiers leading to higher HbF production with cumulative impact of the modifiers on disease severity. 200 patients (100 β-thalassemia homozygotes, 100 Sickle Cell Anemia), and 50 healthy controls were recruited. Primary screening followed with molecular analysis for confirming the β-hemoglobinopathy was performed. Co-existing α-thalassemia and the polymorphisms located in 3 genetic loci linked to HbF regulation were screened. The most remarkable result was the association of SNPs with clinically relevant phenotypic groups. The γ-globin gene promoter polymorphisms [− 158 C → T, + 25 G → A],BCL11A rs1427407 G → T, − 3 bp HBS1L-MYB rs66650371 and rs9399137 T → C polymorphisms were correlated with higher HbF, in group that has lower disease severity score (P < 0.00001), milder clinical presentation, and a significant delay in the age of the first transfusion. Our study emphasizes the complex genetic interactions underlying the disease phenotype that may be a prognostic marker for predicting the clinical severity and assist in disease management.
Hemoglobinopathies though a monogenic disorder, show phenotypic variability. Hence, understanding the genetics underlying the heritable sub-phenotypes of hemoglobinopathies, specific to each population, would be prognostically useful and could inform personalized therapeutics. This study aimed to evaluate the role of genetic modifiers leading to higher HbF production with cumulative impact of the modifiers on disease severity. 200 patients (100 β-thalassemia homozygotes, 100 Sickle Cell Anemia), and 50 healthy controls were recruited. Primary screening followed with molecular analysis for confirming the β-hemoglobinopathy was performed. Co-existing α-thalassemia and the polymorphisms located in 3 genetic loci linked to HbF regulation were screened. The most remarkable result was the association of SNPs with clinically relevant phenotypic groups. The γ-globin gene promoter polymorphisms [- 158 C → T, + 25 G → A],BCL11A rs1427407 G → T, - 3 bp HBS1L-MYB rs66650371 and rs9399137 T → C polymorphisms were correlated with higher HbF, in group that has lower disease severity score (P < 0.00001), milder clinical presentation, and a significant delay in the age of the first transfusion. Our study emphasizes the complex genetic interactions underlying the disease phenotype that may be a prognostic marker for predicting the clinical severity and assist in disease management.
Hemoglobinopathies though a monogenic disorder, show phenotypic variability. Hence, understanding the genetics underlying the heritable sub-phenotypes of hemoglobinopathies, specific to each population, would be prognostically useful and could inform personalized therapeutics. This study aimed to evaluate the role of genetic modifiers leading to higher HbF production with cumulative impact of the modifiers on disease severity. 200 patients (100 β-thalassemia homozygotes, 100 Sickle Cell Anemia), and 50 healthy controls were recruited. Primary screening followed with molecular analysis for confirming the β-hemoglobinopathy was performed. Co-existing α-thalassemia and the polymorphisms located in 3 genetic loci linked to HbF regulation were screened. The most remarkable result was the association of SNPs with clinically relevant phenotypic groups. The γ-globin gene promoter polymorphisms [− 158 C → T, + 25 G → A],BCL11A rs1427407 G → T, − 3 bp HBS1L-MYB rs66650371 and rs9399137 T → C polymorphisms were correlated with higher HbF, in group that has lower disease severity score (P < 0.00001), milder clinical presentation, and a significant delay in the age of the first transfusion. Our study emphasizes the complex genetic interactions underlying the disease phenotype that may be a prognostic marker for predicting the clinical severity and assist in disease management.
Hemoglobinopathies though a monogenic disorder, show phenotypic variability. Hence, understanding the genetics underlying the heritable sub-phenotypes of hemoglobinopathies, specific to each population, would be prognostically useful and could inform personalized therapeutics. This study aimed to evaluate the role of genetic modifiers leading to higher HbF production with cumulative impact of the modifiers on disease severity. 200 patients (100 β-thalassemia homozygotes, 100 Sickle Cell Anemia), and 50 healthy controls were recruited. Primary screening followed with molecular analysis for confirming the β-hemoglobinopathy was performed. Co-existing α-thalassemia and the polymorphisms located in 3 genetic loci linked to HbF regulation were screened. The most remarkable result was the association of SNPs with clinically relevant phenotypic groups. The γ-globin gene promoter polymorphisms [− 158 C → T, + 25 G → A],BCL11A rs1427407 G → T, − 3 bp HBS1L-MYB rs66650371 and rs9399137 T → C polymorphisms were correlated with higher HbF, in group that has lower disease severity score (P < 0.00001), milder clinical presentation, and a significant delay in the age of the first transfusion. Our study emphasizes the complex genetic interactions underlying the disease phenotype that may be a prognostic marker for predicting the clinical severity and assist in disease management.
ArticleNumber 20906
Author Gorivale, Manju
Nadkarni, Anita
Hariharan, Priya
Sawant, Pratibha
Mehta, Pallavi
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  fullname: Sawant, Pratibha
  organization: Department of Haematogenetics, ICMR-National Institute of Immunohaematology
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  surname: Mehta
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  givenname: Anita
  surname: Nadkarni
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BackLink https://www.ncbi.nlm.nih.gov/pubmed/34686692$$D View this record in MEDLINE/PubMed
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Cites_doi 10.1016/j.ajhg.2017.05.012
10.1101/cshperspect.a013482
10.1007/s12288-014-0388-y
10.1016/j.ejmhg.2014.12.005
10.1016/j.bcmd.2006.04.005
10.1016/j.bcmd.2010.05.006
10.1182/blood.v98.1.250
10.1182/blood-2010-11-317081
10.3324/haematol.2011.046748
10.1111/j.1600-0609.2007.00958.x
10.1073/pnas.0711566105
10.3324/haematol.2011.053504
10.1111/ijlh.12948
10.4103/0971-5916.184285
10.1016/j.bcmd.2004.05.002
10.1016/j.bcmd.2017.01.011
10.1172/JCI71520
10.1371/journal.pone.0197927
10.1016/j.bcmd.2014.07.006
10.1002/(sici)1096-8652(199706)55:2<104::aid-ajh9>3.0.co;2-x
10.1007/s40291-016-0187-2
10.1007/978-1-4939-7299-9_2
10.1146/annurev.bioeng.9.060906.152037
10.1007/s00277-015-2479-8
10.1179/1607845415Y.0000000026
10.5045/kjh.2011.46.3.192
10.1016/j.hemonc.2016.02.003
10.1089/gtmb.2014.0310
10.1002/ajh.1156
10.1186/1471-2326-12-11
10.1016/j.ygeno.2018.11.032
10.1016/j.bcmd.2014.10.003
10.1101/cshperspect.a011700
10.1177/1535370216642047
10.1186/s12881-015-0148-3
10.1016/j.bcmd.2015.01.001
10.18203/2349-3291.ijcp20175581
10.1002/ajh.23232
10.1016/j.bcmd.2008.08.003
10.1371/journal.pone.0100516
10.1186/1749-8546-2-8
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References Said, Abdel-Salam (CR25) 2015; 16
Italia, Jain, Gattani, Jijina, Nadkarni, Sawant (CR10) 2009; 42
Mehta, Upadhye, Sawant, Nadkarni, Shanmukhaiah, Ghosh, Colah (CR24) 2015; 94
Danjou, Anni, Perseu, Satta, Dessì, Lai (CR44) 2012; 97
Stadhouders, Aktuna, Thongjuea, Aghajanirefah, Pourfarzad, van IJcken (CR40) 2014; 124
Liu, Pertsemlidis, Ding, Story, Steinberg, Sebastiani, Hoppe (CR36) 2016; 241
Bhanushali, Patra, Nair, Verma, Das (CR32) 2015; 54
Tan, Quah, Low, Chong (CR7) 2001; 98
Mukherjee, Lu, Ducrocq, Gangakhedkar, Colah, Kadam (CR18) 1997; 55
Dadheech, Madhulatha, Jain, Joseph, Jyothy, Munshi (CR30) 2016; 143
Nadkarni, Gorakshakar, Lu, Krishnamoorthy, Ghosh, Colah (CR21) 2001; 68
Pandey, Pandey, Mishra, Sharma, Saxena (CR22) 2011; 46
Miri-Moghaddam, Bahrami, Naderi, Bazi, Karimipoor (CR26) 2017; 11
Nadkarni, Gorakshakar, Colah, Mohanty, Ghosh (CR9) 2007; 2
Balgir (CR1) 2000; 79
Taher, Isma’eel, Cappellini (CR12) 2006; 37
Garewal, Das, Awasthi, Ahluwalia, Marwaha (CR20) 2007; 79
Chen, Zuo, Zhang, Ye, Bao, Huang (CR28) 2017; 101
Adeyemo, Ojewunmi, Oyetunji, Rooks, Rees, Akinsulie (CR41) 2018; 13
Mpalampa, Ndugwa, Ddungu, Idro (CR16) 2012; 12
Nadkarni, Gorakshakar, Sawant, Italia, Upadhye, Gorivale (CR6) 2019; 41
Colah, Nadkarni, Gorakshakar, Phanasgaonkar, Surve, Subramaniam (CR19) 2004; 33
Al-Allawi, Puehringer, Raheem, Oberkanins (CR42) 2015; 19
Kim, Misra (CR8) 2007; 9
Farrell, Sherva, Chen, Luo, Chu, Ha (CR39) 2011; 117
Hariharan, Colah, Ghosh, Nadkarni (CR11) 2019; 111
Bianchi, Cosenza, Lampronti, Finotti, Breveglieri, Zuccato (CR27) 2016; 20
Uda, Galanello, Sanna, Lettre, Sankaran, Chen (CR29) 2008; 105
Steinberg, Sebastiani (CR3) 2012; 87
Mtatiro, Mgaya, Singh, Mariki, Rooks, Soka (CR37) 2015; 16
Thein (CR2) 2013; 3
Lai, Chen, Chen, Zheng, Yi, Li (CR38) 2016; 40
Thein (CR4) 2017; 1013
Trehan, Sharma, Das, Bansal, Marwaha (CR14) 2015; 31
Badens, Joly, Agouti, Thuret, Gonnet, Fattoum (CR5) 2011; 96
Nayak, Motwani, Dewangan, Jai (CR17) 2018; 5
Musallam, Taher, Rachmilewitz (CR15) 2012; 2
Modell, Berdoukas (CR13) 1984
Rumaney, Bitoungui, Vorster, Ramesar, Kengne, Ngogang (CR23) 2014; 9
Rujito, Basalamah, Siswandari, Setyono, Wulandari, Mulatsih (CR31) 2016; 9
Sebastiani, Farrell, Alsultan, Wang, Edward, Shappell (CR33) 2015; 54
Jawaid, Wahlberg, Thein, Best (CR35) 2010; 45
Chaouch, Moumni, Ouragini, Darragi, Kalai, Chaouachi (CR34) 2016; 3
Cardoso, Diniz, da Silva, Cunha, da Silva Junior, Uchôa (CR43) 2014; 53
J Farrell (169_CR39) 2011; 117
G Garewal (169_CR20) 2007; 79
D Chen (169_CR28) 2017; 101
S Kim (169_CR8) 2007; 9
A Trehan (169_CR14) 2015; 31
A Taher (169_CR12) 2006; 37
S Mtatiro (169_CR37) 2015; 16
R Stadhouders (169_CR40) 2014; 124
N Al-Allawi (169_CR42) 2015; 19
K Musallam (169_CR15) 2012; 2
R Balgir (169_CR1) 2000; 79
P Hariharan (169_CR11) 2019; 111
P Mehta (169_CR24) 2015; 94
L Chaouch (169_CR34) 2016; 3
Y Lai (169_CR38) 2016; 40
A Nadkarni (169_CR6) 2019; 41
S Dadheech (169_CR30) 2016; 143
K Jawaid (169_CR35) 2010; 45
B Modell (169_CR13) 1984
N Bianchi (169_CR27) 2016; 20
A Nadkarni (169_CR21) 2001; 68
A Bhanushali (169_CR32) 2015; 54
M Rumaney (169_CR23) 2014; 9
E Miri-Moghaddam (169_CR26) 2017; 11
L Rujito (169_CR31) 2016; 9
M Steinberg (169_CR3) 2012; 87
S Thein (169_CR4) 2017; 1013
L Liu (169_CR36) 2016; 241
A Nadkarni (169_CR9) 2007; 2
S Nayak (169_CR17) 2018; 5
G Cardoso (169_CR43) 2014; 53
M Mukherjee (169_CR18) 1997; 55
F Said (169_CR25) 2015; 16
M Uda (169_CR29) 2008; 105
L Mpalampa (169_CR16) 2012; 12
S Thein (169_CR2) 2013; 3
A Tan (169_CR7) 2001; 98
T Adeyemo (169_CR41) 2018; 13
K Italia (169_CR10) 2009; 42
P Sebastiani (169_CR33) 2015; 54
C Badens (169_CR5) 2011; 96
R Colah (169_CR19) 2004; 33
S Pandey (169_CR22) 2011; 46
F Danjou (169_CR44) 2012; 97
References_xml – volume: 101
  start-page: 130
  year: 2017
  end-page: 138
  ident: CR28
  article-title: A genetic variant ameliorates β-thalassemia severity by epigenetic-mediated elevation of human fetal hemoglobin expression
  publication-title: Am. J. Hum. Genet.
  doi: 10.1016/j.ajhg.2017.05.012
  contributor:
    fullname: Huang
– volume: 2
  year: 2012
  ident: CR15
  article-title: β-Thalassemia intermedia: A clinical perspective
  publication-title: Cold Spring Harb. Perspect. Med.
  doi: 10.1101/cshperspect.a013482
  contributor:
    fullname: Rachmilewitz
– volume: 31
  start-page: 121
  year: 2015
  end-page: 126
  ident: CR14
  article-title: Clinico investigational and demographic profile of children with thalassemia major
  publication-title: Indian J. Hematol. Blood Transfus.
  doi: 10.1007/s12288-014-0388-y
  contributor:
    fullname: Marwaha
– volume: 16
  start-page: 123
  year: 2015
  end-page: 127
  ident: CR25
  article-title: XmnI polymorphism: Relation to β thalassemia phenotype and genotype in Egyptian Children
  publication-title: Egypt J. Med. Hum. Genet.
  doi: 10.1016/j.ejmhg.2014.12.005
  contributor:
    fullname: Abdel-Salam
– volume: 37
  start-page: 12
  year: 2006
  end-page: 20
  ident: CR12
  article-title: Thalassemia intermedia: Revisited
  publication-title: Blood Cells Mol. Dis.
  doi: 10.1016/j.bcmd.2006.04.005
  contributor:
    fullname: Cappellini
– volume: 45
  start-page: 140
  year: 2010
  end-page: 146
  ident: CR35
  article-title: Binding patterns of BCL11A in the globin and GATA1 loci and characterization of the BCL11A fetal hemoglobin locus
  publication-title: Blood Cells Mol. Dis.
  doi: 10.1016/j.bcmd.2010.05.006
  contributor:
    fullname: Best
– volume: 98
  start-page: 250
  year: 2001
  end-page: 251
  ident: CR7
  article-title: A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for alpha-thalassemia
  publication-title: Blood
  doi: 10.1182/blood.v98.1.250
  contributor:
    fullname: Chong
– volume: 117
  start-page: 4935
  year: 2011
  end-page: 4945
  ident: CR39
  article-title: A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression
  publication-title: Blood
  doi: 10.1182/blood-2010-11-317081
  contributor:
    fullname: Ha
– volume: 96
  start-page: 1712
  year: 2011
  end-page: 1714
  ident: CR5
  article-title: Variants in genetic modifiers of β-thalassemia can help to predict the major or intermedia type of the disease
  publication-title: Haematologica
  doi: 10.3324/haematol.2011.046748
  contributor:
    fullname: Fattoum
– volume: 79
  start-page: 417
  year: 2007
  end-page: 421
  ident: CR20
  article-title: The clinical significance of the spectrum of interactions of CAP+1 (A→C), a silent beta-globin gene mutation, with other beta-thalassemia mutations and globin gene modifiers in north Indians
  publication-title: Eur. J. Haematol.
  doi: 10.1111/j.1600-0609.2007.00958.x
  contributor:
    fullname: Marwaha
– volume: 105
  start-page: 1620
  year: 2008
  end-page: 1625
  ident: CR29
  article-title: Genome-wide association study shows BCL11A associated with persistent foetal haemoglobin and amelioration of the phenotype of β-thalassaemia
  publication-title: Proc. Natl. Acad. Sci. U. S. A.
  doi: 10.1073/pnas.0711566105
  contributor:
    fullname: Chen
– volume: 97
  start-page: 989
  year: 2012
  end-page: 993
  ident: CR44
  article-title: Genetic modifiers of β-thalassemia and clinical severity as assessed by age at first transfusion
  publication-title: Haematologica
  doi: 10.3324/haematol.2011.053504
  contributor:
    fullname: Lai
– volume: 41
  start-page: 218
  year: 2019
  end-page: 226
  ident: CR6
  article-title: The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center
  publication-title: Int. J. Lab. Hematol.
  doi: 10.1111/ijlh.12948
  contributor:
    fullname: Gorivale
– volume: 143
  start-page: 449
  year: 2016
  end-page: 454
  ident: CR30
  article-title: Association of BCL11A genetic variant (rs11886868) with severity in β-thalassaemia major & sickle cell anaemia
  publication-title: Indian J. Med. Res.
  doi: 10.4103/0971-5916.184285
  contributor:
    fullname: Munshi
– volume: 11
  start-page: 165
  year: 2017
  end-page: 171
  ident: CR26
  article-title: Xmn1-158 γ G variant in β-thalassemia intermediate patients in South-East of Iran
  publication-title: Int. J. Hematol. Oncol. Stem Cell Res.
  contributor:
    fullname: Karimipoor
– volume: 33
  start-page: 153
  year: 2004
  end-page: 157
  ident: CR19
  article-title: Impact of beta globin gene mutations on the clinical phenotype of beta thalassemia in India
  publication-title: Blood Cells Mol. Dis.
  doi: 10.1016/j.bcmd.2004.05.002
  contributor:
    fullname: Subramaniam
– volume: 40
  start-page: 405
  year: 2016
  end-page: 410
  ident: CR38
  article-title: Genetic variants at BCL11A and HBS1L-MYB loci influence Hb F levels in Chinese Zhuang β-thalassemia intermedia patients
  publication-title: Hemoglobin
  doi: 10.1016/j.bcmd.2017.01.011
  contributor:
    fullname: Li
– volume: 124
  start-page: 1699
  year: 2014
  end-page: 1710
  ident: CR40
  article-title: HBS1L-MYB intergenic variants modulate foetal haemoglobin via long-range MYB enhancers
  publication-title: J. Clin. Investig.
  doi: 10.1172/JCI71520
  contributor:
    fullname: van IJcken
– volume: 2
  start-page: 8
  year: 2007
  ident: CR9
  article-title: Evaluation of the clinical severity of β thalassemia homozygous patients using a phenotypic scoring system
  publication-title: J. Chin. Clin. Med.
  contributor:
    fullname: Ghosh
– volume: 13
  year: 2018
  ident: CR41
  article-title: A survey of genetic fetal-haemoglobin modifiers in Nigerian patients with sickle cell anaemia
  publication-title: PLoS One
  doi: 10.1371/journal.pone.0197927
  contributor:
    fullname: Akinsulie
– volume: 53
  start-page: 176
  year: 2014
  end-page: 179
  ident: CR43
  article-title: DNA polymorphisms at BCL11A, HBS1L-MYB and Xmn1-HBG2 site loci associated with fetal hemoglobin levels in sickle cell anemia patients from Northern Brazil
  publication-title: Blood Cells Mol. Dis.
  doi: 10.1016/j.bcmd.2014.07.006
  contributor:
    fullname: Uchôa
– volume: 79
  start-page: 1536
  year: 2000
  end-page: 1547
  ident: CR1
  article-title: The burden of haemoglobinopathies in India and the challenges ahead
  publication-title: Curr. Sci.
  contributor:
    fullname: Balgir
– volume: 55
  start-page: 104
  year: 1997
  end-page: 109
  ident: CR18
  article-title: α-Thalassemia on sickle-cell anemia linked to the Arab-Indian haplotype in India
  publication-title: Am. J. Hematol.
  doi: 10.1002/(sici)1096-8652(199706)55:2<104::aid-ajh9>3.0.co;2-x
  contributor:
    fullname: Kadam
– volume: 20
  start-page: 161
  year: 2016
  end-page: 173
  ident: CR27
  article-title: Structural and functional insights on an uncharacterized Aγ-globin-gene polymorphism present in four β0-thalassemia families with high fetal hemoglobin levels
  publication-title: Mol. Diagn. Ther.
  doi: 10.1007/s40291-016-0187-2
  contributor:
    fullname: Zuccato
– volume: 1013
  start-page: 27
  year: 2017
  end-page: 57
  ident: CR4
  article-title: Genetic basis and genetic modifiers of β-thalassemia and sickle cell disease
  publication-title: Adv. Exp. Med. Biol.
  doi: 10.1007/978-1-4939-7299-9_2
  contributor:
    fullname: Thein
– volume: 9
  start-page: 289
  year: 2007
  end-page: 320
  ident: CR8
  article-title: SNP genotyping: Technologies and biomedical applications
  publication-title: Annu. Rev. Biomed. Eng.
  doi: 10.1146/annurev.bioeng.9.060906.152037
  contributor:
    fullname: Misra
– volume: 94
  start-page: 1953
  year: 2015
  end-page: 1958
  ident: CR24
  article-title: Diverse phenotypes and transfusion requirements due to interaction of β thalassaemias with triplicated αglobin genes
  publication-title: Ann. Hematol.
  doi: 10.1007/s00277-015-2479-8
  contributor:
    fullname: Colah
– volume: 3
  start-page: 1
  year: 2016
  end-page: 5
  ident: CR34
  article-title: rs11886868 and rs4671393 of BCL11A associated with HbF level variation and modulate clinical events among sickle cell anemia patients
  publication-title: Hematology
  doi: 10.1179/1607845415Y.0000000026
  contributor:
    fullname: Chaouachi
– volume: 46
  start-page: 192
  year: 2011
  end-page: 195
  ident: CR22
  article-title: Genotypic influence of α-deletions on the phenotype of Indian sickle cell anemia patients
  publication-title: Korean J. Hematol.
  doi: 10.5045/kjh.2011.46.3.192
  contributor:
    fullname: Saxena
– volume: 9
  start-page: 55
  year: 2016
  end-page: 63
  ident: CR31
  article-title: Modifying effect of XmnI, BCL11A, and HBS1L-MYB on clinical appearances: A study on β-thalassemia and hemoglobin E/β-thalassemia patients in Indonesia
  publication-title: Hematol. Oncol. Stem Cell Ther.
  doi: 10.1016/j.hemonc.2016.02.003
  contributor:
    fullname: Mulatsih
– volume: 19
  start-page: 242
  year: 2015
  end-page: 247
  ident: CR42
  article-title: Genetic modifiers in β-thalassemia intermedia: A study on 102 Iraqi Arab patients
  publication-title: Genet. Test Mol. Biomark.
  doi: 10.1089/gtmb.2014.0310
  contributor:
    fullname: Oberkanins
– volume: 68
  start-page: 75
  year: 2001
  end-page: 80
  ident: CR21
  article-title: Molecular pathogenesis and clinical variability of beta-thalassaemia syndromes among Indians
  publication-title: Am. J. Hematol.
  doi: 10.1002/ajh.1156
  contributor:
    fullname: Colah
– volume: 12
  start-page: 11
  year: 2012
  ident: CR16
  article-title: Foetal haemoglobin and disease severity in sickle cell anaemia patients in Kampala, Uganda
  publication-title: BMC Blood Disord.
  doi: 10.1186/1471-2326-12-11
  contributor:
    fullname: Idro
– volume: 111
  start-page: 1771
  year: 2019
  end-page: 1776
  ident: CR11
  article-title: Differential role of Kruppel like factor 1 (KLF1) gene in red blood cell disorders
  publication-title: Genomics
  doi: 10.1016/j.ygeno.2018.11.032
  contributor:
    fullname: Nadkarni
– volume: 54
  start-page: 4
  year: 2015
  end-page: 8
  ident: CR32
  article-title: Genetic variant in the BCL11A (rs1427407), but not HBS1-MYB (rs6934903) loci associate with fetal hemoglobin levels in Indian sickle cell disease patients
  publication-title: Blood Cells Mol. Dis.
  doi: 10.1016/j.bcmd.2014.10.003
  contributor:
    fullname: Das
– year: 1984
  ident: CR13
  publication-title: The Clinical Approach to Thalassemia
  contributor:
    fullname: Berdoukas
– volume: 3
  year: 2013
  ident: CR2
  article-title: The molecular basis of β-thalassemia
  publication-title: Cold Spring Harb. Perspect. Med.
  doi: 10.1101/cshperspect.a011700
  contributor:
    fullname: Thein
– volume: 241
  start-page: 706
  year: 2016
  end-page: 718
  ident: CR36
  article-title: Original research: A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease
  publication-title: Exp. Biol. Med. (Maywood).
  doi: 10.1177/1535370216642047
  contributor:
    fullname: Hoppe
– volume: 16
  start-page: 4
  year: 2015
  ident: CR37
  article-title: Genetic association of fetal-hemoglobin levels in individuals with sickle cell disease in Tanzania maps to conserved regulatory elements within the MYB core enhancer
  publication-title: BMC Med. Genet.
  doi: 10.1186/s12881-015-0148-3
  contributor:
    fullname: Soka
– volume: 54
  start-page: 224
  year: 2015
  end-page: 230
  ident: CR33
  article-title: BCL11A enhancer haplotypes and fetal hemoglobin in sickle cell anemia
  publication-title: Blood Cells Mol. Dis.
  doi: 10.1016/j.bcmd.2015.01.001
  contributor:
    fullname: Shappell
– volume: 5
  start-page: 173
  year: 2018
  end-page: 177
  ident: CR17
  article-title: Clinical and haematological profile of children with sickle cell anaemia admitted to a rural medical college of Chhattisgarh
  publication-title: India. Int. J. Contemp. Pediatr.
  doi: 10.18203/2349-3291.ijcp20175581
  contributor:
    fullname: Jai
– volume: 87
  start-page: 795
  year: 2012
  end-page: 803
  ident: CR3
  article-title: Genetic modifiers of sickle cell disease
  publication-title: Am. J. Hematol.
  doi: 10.1002/ajh.23232
  contributor:
    fullname: Sebastiani
– volume: 42
  start-page: 25
  year: 2009
  end-page: 31
  ident: CR10
  article-title: Hydroxyurea in sickle cell disease-A study of clinico-pharmacological efficacy in the Indian haplotype
  publication-title: Blood Cells Mol. Dis.
  doi: 10.1016/j.bcmd.2008.08.003
  contributor:
    fullname: Sawant
– volume: 9
  year: 2014
  ident: CR23
  article-title: The co-inheritance of alpha-thalassemia and sickle cell anemia is associated with better hematological indices and lower consultations rate in Cameroonian patients and could improve their survival
  publication-title: PLoS One
  doi: 10.1371/journal.pone.0100516
  contributor:
    fullname: Ngogang
– volume: 79
  start-page: 1536
  year: 2000
  ident: 169_CR1
  publication-title: Curr. Sci.
  contributor:
    fullname: R Balgir
– volume: 1013
  start-page: 27
  year: 2017
  ident: 169_CR4
  publication-title: Adv. Exp. Med. Biol.
  doi: 10.1007/978-1-4939-7299-9_2
  contributor:
    fullname: S Thein
– volume: 31
  start-page: 121
  year: 2015
  ident: 169_CR14
  publication-title: Indian J. Hematol. Blood Transfus.
  doi: 10.1007/s12288-014-0388-y
  contributor:
    fullname: A Trehan
– volume: 94
  start-page: 1953
  year: 2015
  ident: 169_CR24
  publication-title: Ann. Hematol.
  doi: 10.1007/s00277-015-2479-8
  contributor:
    fullname: P Mehta
– volume: 68
  start-page: 75
  year: 2001
  ident: 169_CR21
  publication-title: Am. J. Hematol.
  doi: 10.1002/ajh.1156
  contributor:
    fullname: A Nadkarni
– volume: 101
  start-page: 130
  year: 2017
  ident: 169_CR28
  publication-title: Am. J. Hum. Genet.
  doi: 10.1016/j.ajhg.2017.05.012
  contributor:
    fullname: D Chen
– volume: 117
  start-page: 4935
  year: 2011
  ident: 169_CR39
  publication-title: Blood
  doi: 10.1182/blood-2010-11-317081
  contributor:
    fullname: J Farrell
– volume: 12
  start-page: 11
  year: 2012
  ident: 169_CR16
  publication-title: BMC Blood Disord.
  doi: 10.1186/1471-2326-12-11
  contributor:
    fullname: L Mpalampa
– volume: 241
  start-page: 706
  year: 2016
  ident: 169_CR36
  publication-title: Exp. Biol. Med. (Maywood).
  doi: 10.1177/1535370216642047
  contributor:
    fullname: L Liu
– volume: 19
  start-page: 242
  year: 2015
  ident: 169_CR42
  publication-title: Genet. Test Mol. Biomark.
  doi: 10.1089/gtmb.2014.0310
  contributor:
    fullname: N Al-Allawi
– volume: 9
  start-page: 55
  year: 2016
  ident: 169_CR31
  publication-title: Hematol. Oncol. Stem Cell Ther.
  doi: 10.1016/j.hemonc.2016.02.003
  contributor:
    fullname: L Rujito
– volume: 41
  start-page: 218
  year: 2019
  ident: 169_CR6
  publication-title: Int. J. Lab. Hematol.
  doi: 10.1111/ijlh.12948
  contributor:
    fullname: A Nadkarni
– volume: 54
  start-page: 4
  year: 2015
  ident: 169_CR32
  publication-title: Blood Cells Mol. Dis.
  doi: 10.1016/j.bcmd.2014.10.003
  contributor:
    fullname: A Bhanushali
– volume: 37
  start-page: 12
  year: 2006
  ident: 169_CR12
  publication-title: Blood Cells Mol. Dis.
  doi: 10.1016/j.bcmd.2006.04.005
  contributor:
    fullname: A Taher
– volume: 2
  year: 2012
  ident: 169_CR15
  publication-title: Cold Spring Harb. Perspect. Med.
  doi: 10.1101/cshperspect.a013482
  contributor:
    fullname: K Musallam
– volume: 97
  start-page: 989
  year: 2012
  ident: 169_CR44
  publication-title: Haematologica
  doi: 10.3324/haematol.2011.053504
  contributor:
    fullname: F Danjou
– volume: 79
  start-page: 417
  year: 2007
  ident: 169_CR20
  publication-title: Eur. J. Haematol.
  doi: 10.1111/j.1600-0609.2007.00958.x
  contributor:
    fullname: G Garewal
– volume: 16
  start-page: 123
  year: 2015
  ident: 169_CR25
  publication-title: Egypt J. Med. Hum. Genet.
  doi: 10.1016/j.ejmhg.2014.12.005
  contributor:
    fullname: F Said
– volume: 40
  start-page: 405
  year: 2016
  ident: 169_CR38
  publication-title: Hemoglobin
  doi: 10.1016/j.bcmd.2017.01.011
  contributor:
    fullname: Y Lai
– volume: 87
  start-page: 795
  year: 2012
  ident: 169_CR3
  publication-title: Am. J. Hematol.
  doi: 10.1002/ajh.23232
  contributor:
    fullname: M Steinberg
– volume: 33
  start-page: 153
  year: 2004
  ident: 169_CR19
  publication-title: Blood Cells Mol. Dis.
  doi: 10.1016/j.bcmd.2004.05.002
  contributor:
    fullname: R Colah
– volume: 53
  start-page: 176
  year: 2014
  ident: 169_CR43
  publication-title: Blood Cells Mol. Dis.
  doi: 10.1016/j.bcmd.2014.07.006
  contributor:
    fullname: G Cardoso
– volume: 42
  start-page: 25
  year: 2009
  ident: 169_CR10
  publication-title: Blood Cells Mol. Dis.
  doi: 10.1016/j.bcmd.2008.08.003
  contributor:
    fullname: K Italia
– volume: 55
  start-page: 104
  year: 1997
  ident: 169_CR18
  publication-title: Am. J. Hematol.
  doi: 10.1002/(sici)1096-8652(199706)55:2<104::aid-ajh9>3.0.co;2-x
  contributor:
    fullname: M Mukherjee
– volume: 13
  year: 2018
  ident: 169_CR41
  publication-title: PLoS One
  doi: 10.1371/journal.pone.0197927
  contributor:
    fullname: T Adeyemo
– volume: 9
  year: 2014
  ident: 169_CR23
  publication-title: PLoS One
  doi: 10.1371/journal.pone.0100516
  contributor:
    fullname: M Rumaney
– volume: 143
  start-page: 449
  year: 2016
  ident: 169_CR30
  publication-title: Indian J. Med. Res.
  doi: 10.4103/0971-5916.184285
  contributor:
    fullname: S Dadheech
– volume: 124
  start-page: 1699
  year: 2014
  ident: 169_CR40
  publication-title: J. Clin. Investig.
  doi: 10.1172/JCI71520
  contributor:
    fullname: R Stadhouders
– volume: 105
  start-page: 1620
  year: 2008
  ident: 169_CR29
  publication-title: Proc. Natl. Acad. Sci. U. S. A.
  doi: 10.1073/pnas.0711566105
  contributor:
    fullname: M Uda
– volume: 2
  start-page: 8
  year: 2007
  ident: 169_CR9
  publication-title: J. Chin. Clin. Med.
  doi: 10.1186/1749-8546-2-8
  contributor:
    fullname: A Nadkarni
– volume: 54
  start-page: 224
  year: 2015
  ident: 169_CR33
  publication-title: Blood Cells Mol. Dis.
  doi: 10.1016/j.bcmd.2015.01.001
  contributor:
    fullname: P Sebastiani
– volume: 5
  start-page: 173
  year: 2018
  ident: 169_CR17
  publication-title: India. Int. J. Contemp. Pediatr.
  doi: 10.18203/2349-3291.ijcp20175581
  contributor:
    fullname: S Nayak
– volume: 3
  start-page: 1
  year: 2016
  ident: 169_CR34
  publication-title: Hematology
  doi: 10.1179/1607845415Y.0000000026
  contributor:
    fullname: L Chaouch
– volume: 111
  start-page: 1771
  year: 2019
  ident: 169_CR11
  publication-title: Genomics
  doi: 10.1016/j.ygeno.2018.11.032
  contributor:
    fullname: P Hariharan
– volume: 20
  start-page: 161
  year: 2016
  ident: 169_CR27
  publication-title: Mol. Diagn. Ther.
  doi: 10.1007/s40291-016-0187-2
  contributor:
    fullname: N Bianchi
– volume: 9
  start-page: 289
  year: 2007
  ident: 169_CR8
  publication-title: Annu. Rev. Biomed. Eng.
  doi: 10.1146/annurev.bioeng.9.060906.152037
  contributor:
    fullname: S Kim
– volume: 45
  start-page: 140
  year: 2010
  ident: 169_CR35
  publication-title: Blood Cells Mol. Dis.
  doi: 10.1016/j.bcmd.2010.05.006
  contributor:
    fullname: K Jawaid
– volume: 3
  year: 2013
  ident: 169_CR2
  publication-title: Cold Spring Harb. Perspect. Med.
  doi: 10.1101/cshperspect.a011700
  contributor:
    fullname: S Thein
– volume: 96
  start-page: 1712
  year: 2011
  ident: 169_CR5
  publication-title: Haematologica
  doi: 10.3324/haematol.2011.046748
  contributor:
    fullname: C Badens
– volume-title: The Clinical Approach to Thalassemia
  year: 1984
  ident: 169_CR13
  contributor:
    fullname: B Modell
– volume: 11
  start-page: 165
  year: 2017
  ident: 169_CR26
  publication-title: Int. J. Hematol. Oncol. Stem Cell Res.
  contributor:
    fullname: E Miri-Moghaddam
– volume: 98
  start-page: 250
  year: 2001
  ident: 169_CR7
  publication-title: Blood
  doi: 10.1182/blood.v98.1.250
  contributor:
    fullname: A Tan
– volume: 46
  start-page: 192
  year: 2011
  ident: 169_CR22
  publication-title: Korean J. Hematol.
  doi: 10.5045/kjh.2011.46.3.192
  contributor:
    fullname: S Pandey
– volume: 16
  start-page: 4
  year: 2015
  ident: 169_CR37
  publication-title: BMC Med. Genet.
  doi: 10.1186/s12881-015-0148-3
  contributor:
    fullname: S Mtatiro
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Snippet Hemoglobinopathies though a monogenic disorder, show phenotypic variability. Hence, understanding the genetics underlying the heritable sub-phenotypes of...
Abstract Hemoglobinopathies though a monogenic disorder, show phenotypic variability. Hence, understanding the genetics underlying the heritable sub-phenotypes...
Abstract Hemoglobinopathies though a monogenic disorder, show phenotypic variability. Hence, understanding the genetics underlying the heritable sub-phenotypes...
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SubjectTerms 631/208
631/337
692/4017
692/699
alpha-Thalassemia - genetics
Anemia, Sickle Cell - genetics
beta-Thalassemia - genetics
Blood diseases
Child
Child, Preschool
gamma-Globins - genetics
Genes, Modifier - genetics
Genetic Loci - genetics
Genetic Markers - genetics
Genetic variability
Genetics
Genotype
Hemoglobinopathies - genetics
Hemoglobinopathy
Homozygotes
Humanities and Social Sciences
Humans
multidisciplinary
Phenotype
Phenotypes
Polymorphism, Single Nucleotide - genetics
Precision medicine
Precision Medicine - methods
Promoter Regions, Genetic - genetics
Science
Science (multidisciplinary)
Sickle cell disease
Single-nucleotide polymorphism
Thalassemia
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Title Significance of genetic modifiers of hemoglobinopathies leading towards precision medicine
URI https://link.springer.com/article/10.1038/s41598-021-00169-x
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https://pubmed.ncbi.nlm.nih.gov/PMC8536722
https://doaj.org/article/f262b4e261064b2b9439d8bc6a44dc94
Volume 11
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