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{"title"=>"Molecular pathology of rare bleeding disorders (RBDs) in India: A systematic review", "type"=>"journal", "authors"=>[{"first_name"=>"Bipin P.", "last_name"=>"Kulkarni", "scopus_author_id"=>"7101896236"}, {"first_name"=>"Sona B.", "last_name"=>"Nair", "scopus_author_id"=>"7402726308"}, {"first_name"=>"Manasi", "last_name"=>"Vijapurkar", "scopus_author_id"=>"16837553400"}, {"first_name"=>"Leenam", "last_name"=>"Mota", "scopus_author_id"=>"16245937800"}, {"first_name"=>"Sharda", "last_name"=>"Shanbhag", "scopus_author_id"=>"39262413300"}, {"first_name"=>"Shehnaz", "last_name"=>"Ali", "scopus_author_id"=>"56374615700"}, {"first_name"=>"Shrimati D.", "last_name"=>"Shetty", "scopus_author_id"=>"7102817966"}, {"first_name"=>"Kanjaksha", "last_name"=>"Ghosh", "scopus_author_id"=>"7201768639"}], "year"=>2014, "source"=>"PLoS ONE", "identifiers"=>{"pui"=>"600086898", "issn"=>"19326203", "doi"=>"10.1371/journal.pone.0108683", "scopus"=>"2-s2.0-84907484402", "pmid"=>"25275492", "sgr"=>"84907484402"}, "id"=>"9b68ece3-5e85-30b5-83d2-e1ae4f46411a", "abstract"=>"BACKGROUND: Though rare in occurrence, patients with rare bleeding disorders (RBDs) are highly heterogeneous and may manifest with severe bleeding diathesis. Due to the high rate of consanguinity in many caste groups, these autosomal recessive bleeding disorders which are of rare occurrence in populations across the world, may not be as rare in India.\\n\\nOBJECTIVES: To comprehensively analyze the frequency and nature of mutations in Indian patients with RBDs.\\n\\nMETHODS: Pubmed search was used (www.pubmed.com) to explore the published literature from India on RBDs using the key words \"rare bleeding disorders\", \"mutations\", \"India\", \"fibrinogen\", \"afibrinogenemia\", \"factor II deficiency\", \"prothrombin\" \"factor VII deficiency\", \"factor V deficiency\", \"factor X deficiency\", \"factor XI deficiency\", \"combined factor V and VIII deficiency\", \"factor XIII deficiency\", \"Bernard Soulier syndrome\" and \"Glanzmanns thrombasthenia\" in different combinations. A total of 60 relevant articles could be retrieved. The distribution of mutations from India was compared with that of the world literature by referring to the Human Gene Mutation Database (HGMD) (www.hgmd.org).\\n\\nRESULTS: Taken together, 181 mutations in 270 patients with different RBDs have been reported from India. Though the types of mutations reported from India and their percentage distribution with respect to the world data are largely similar, yet much higher percentage of small deletions, duplication mutations, insertions, indels were observed in this analysis. Besides the identification of novel mutations and polymorphisms, several common mutations have also been reported, which will allow to develop a strategy for mutation screening in Indian patients with RBDs.\\n\\nCONCLUSION: There is a need for a consortium of Institutions working on the molecular pathology of RBDs in India. This will facilitate a quicker and cheaper diagnosis of RBDs besides its utility in first trimester prenatal diagnosis of the affected families.", "link"=>"http://www.mendeley.com/research/molecular-pathology-rare-bleeding-disorders-rbds-india-systematic-review", "reader_count"=>6, "reader_count_by_academic_status"=>{"Unspecified"=>1, "Librarian"=>1, "Researcher"=>2, "Student > Master"=>1, "Student > Bachelor"=>1}, "reader_count_by_user_role"=>{"Unspecified"=>1, "Librarian"=>1, "Researcher"=>2, "Student > Master"=>1, "Student > Bachelor"=>1}, "reader_count_by_subject_area"=>{"Unspecified"=>1, "Biochemistry, Genetics and Molecular Biology"=>1, "Medicine and Dentistry"=>2, "Agricultural and Biological Sciences"=>1, "Social Sciences"=>1}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>2}, "Social Sciences"=>{"Social Sciences"=>1}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>1}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>1}, "Unspecified"=>{"Unspecified"=>1}}, "group_count"=>1}

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• http://doi.org/10.1016/j.blre.2020.100793
• http://doi.org/10.1007/s12288-018-1059-1
• http://doi.org/10.1177/1076029616680473
• http://doi.org/10.1080/21678707.2018.1419128
• http://doi.org/10.3390/ijms19061597
• http://doi.org/10.1080/10245332.2015.1101975
• http://doi.org/10.1097/MBC.0000000000000459
• http://doi.org/10.1111/hae.13365

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• {"files"=>["https://ndownloader.figshare.com/files/1701611"], "description"=>"§<p>Novel variations, $ Common variations.</p><p>Mutations in Indian patients with Factor VII deficiency.</p>", "links"=>[], "tags"=>["factor", "vii", "Human Gene Mutation Database", "deficiency", "mutation", "ii", "xiii", "hgmd", "Indian patients", "Systematic Review BackgroundThough", "xi", "viii", "rbd", "Rare Bleeding Disorders"], "article_id"=>1191120, "categories"=>["Biological Sciences"], "users"=>["Bipin P. Kulkarni", "Sona B. Nair", "Manasi Vijapurkar", "Leenam Mota", "Sharda Shanbhag", "Shehnaz Ali", "Shrimati D. Shetty", "Kanjaksha Ghosh"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0108683.t005", "stats"=>{"downloads"=>2, "page_views"=>11, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Mutations_in_Indian_patients_with_Factor_VII_deficiency_/1191120", "title"=>"Mutations in Indian patients with Factor VII deficiency.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2014-10-02 02:47:40"}
• {"files"=>["https://ndownloader.figshare.com/files/1701612"], "description"=>"§<p>Novel variations.</p><p>Mutations in Indian patients of Factor X deficiency.</p>", "links"=>[], "tags"=>["factor", "vii", "Human Gene Mutation Database", "deficiency", "mutation", "ii", "xiii", "hgmd", "Indian patients", "Systematic Review BackgroundThough", "xi", "viii", "rbd", "Rare Bleeding Disorders"], "article_id"=>1191121, "categories"=>["Biological Sciences"], "users"=>["Bipin P. Kulkarni", "Sona B. Nair", "Manasi Vijapurkar", "Leenam Mota", "Sharda Shanbhag", "Shehnaz Ali", "Shrimati D. Shetty", "Kanjaksha Ghosh"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0108683.t006", "stats"=>{"downloads"=>1, "page_views"=>8, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Mutations_in_Indian_patients_of_Factor_X_deficiency_/1191121", "title"=>"Mutations in Indian patients of Factor X deficiency.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2014-10-02 02:47:40"}
• {"files"=>["https://ndownloader.figshare.com/files/1701613"], "description"=>"§<p>Novel variations.</p><p><b>*</b> Patient 3 also showed a mutation p.Phe349Val in <i>F9</i> gene.</p><p>Mutations in Indian patients with Factor XI deficiency.</p>", "links"=>[], "tags"=>["factor", "vii", "Human Gene Mutation Database", "deficiency", "mutation", "ii", "xiii", "hgmd", "Indian patients", "Systematic Review BackgroundThough", "xi", "viii", "rbd", "Rare Bleeding Disorders"], "article_id"=>1191122, "categories"=>["Biological Sciences"], "users"=>["Bipin P. Kulkarni", "Sona B. Nair", "Manasi Vijapurkar", "Leenam Mota", "Sharda Shanbhag", "Shehnaz Ali", "Shrimati D. Shetty", "Kanjaksha Ghosh"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0108683.t007", "stats"=>{"downloads"=>1, "page_views"=>13, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Mutations_in_Indian_patients_with_Factor_XI_deficiency_/1191122", "title"=>"Mutations in Indian patients with Factor XI deficiency.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2014-10-02 02:47:40"}
• {"files"=>["https://ndownloader.figshare.com/files/1701614"], "description"=>"§<p>Novel variations.</p><p>All the mutations reported above are reported in <i>F13A</i> gene.</p><p>Mutations from Indian patients with Factor XIII deficiency.</p>", "links"=>[], "tags"=>["factor", "vii", "Human Gene Mutation Database", "deficiency", "mutation", "ii", "xiii", "hgmd", "Indian patients", "Systematic Review BackgroundThough", "xi", "viii", "rbd", "Rare Bleeding Disorders"], "article_id"=>1191123, "categories"=>["Biological Sciences"], "users"=>["Bipin P. Kulkarni", "Sona B. Nair", "Manasi Vijapurkar", "Leenam Mota", "Sharda Shanbhag", "Shehnaz Ali", "Shrimati D. Shetty", "Kanjaksha Ghosh"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0108683.t008", "stats"=>{"downloads"=>8, "page_views"=>15, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Mutations_from_Indian_patients_with_Factor_XIII_deficiency_/1191123", "title"=>"Mutations from Indian patients with Factor XIII deficiency.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2014-10-02 02:47:40"}
• {"files"=>["https://ndownloader.figshare.com/files/1701615"], "description"=>"<p>fs. Frameshift mutations; § Novel variations.</p><p>Mutations and polymorphisms in Indian patients of Glanzmann's Thrombasthenia (GT).</p>", "links"=>[], "tags"=>["factor", "vii", "Human Gene Mutation Database", "deficiency", "mutation", "ii", "xiii", "hgmd", "Indian patients", "Systematic Review BackgroundThough", "xi", "viii", "rbd", "Rare Bleeding Disorders"], "article_id"=>1191124, "categories"=>["Biological Sciences"], "users"=>["Bipin P. Kulkarni", "Sona B. Nair", "Manasi Vijapurkar", "Leenam Mota", "Sharda Shanbhag", "Shehnaz Ali", "Shrimati D. Shetty", "Kanjaksha Ghosh"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0108683.t009", "stats"=>{"downloads"=>8, "page_views"=>12, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Mutations_and_polymorphisms_in_Indian_patients_of_Glanzmann_s_Thrombasthenia_GT_/1191124", "title"=>"Mutations and polymorphisms in Indian patients of Glanzmann's Thrombasthenia (GT).", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2014-10-02 02:47:40"}
• {"files"=>["https://ndownloader.figshare.com/files/1701616"], "description"=>"§<p>Novel variations, $ Common variation.</p><p>Mutations in Indian patients with Bernard Soulier Syndrome (BSS).</p>", "links"=>[], "tags"=>["factor", "vii", "Human Gene Mutation Database", "deficiency", "mutation", "ii", "xiii", "hgmd", "Indian patients", "Systematic Review BackgroundThough", "xi", "viii", "rbd", "Rare Bleeding Disorders"], "article_id"=>1191125, "categories"=>["Biological Sciences"], "users"=>["Bipin P. Kulkarni", "Sona B. Nair", "Manasi Vijapurkar", "Leenam Mota", "Sharda Shanbhag", "Shehnaz Ali", "Shrimati D. Shetty", "Kanjaksha Ghosh"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0108683.t010", "stats"=>{"downloads"=>6, "page_views"=>10, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Mutations_in_Indian_patients_with_Bernard_Soulier_Syndrome_BSS_/1191125", "title"=>"Mutations in Indian patients with Bernard Soulier Syndrome (BSS).", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2014-10-02 02:47:40"}
• {"files"=>["https://ndownloader.figshare.com/files/1701617"], "description"=>"<p>Percentage of mutations detected in different genes in Indian patients (184 mutations) versus HGMD is as follows: FGA/FGB/FGG 8.15% (HGMD 16.14%; <i>F2</i> 3.26% (HGMD 3.92%); <i>F5</i> 1.63% (HGMD 56.5%); <i>LMAN1</i> 1.08% (HGMD 2.42%; <i>MCFD2</i> 2.17% (HGMD 1.28%) <i>F7</i> 8.15% (HGMD 16.14%); <i>F10</i> 10.32% (HGMD 7.35%); <i>F11</i> 1.63% (16.07%); <i>F13</i> 8.69% (HGMD 7%); <i>GP1BB/GP9</i>: 16.3% (HGMD 3%); <i>ITGA2B/ITGB</i>: 35.32% (HGMD 17%).</p><p>Comparison of percentage distribution of Indian RBD mutations with HGMD mutations.</p>", "links"=>[], "tags"=>["factor", "vii", "Human Gene Mutation Database", "deficiency", "mutation", "ii", "xiii", "hgmd", "Indian patients", "Systematic Review BackgroundThough", "xi", "viii", "rbd", "Rare Bleeding Disorders"], "article_id"=>1191126, "categories"=>["Biological Sciences"], "users"=>["Bipin P. Kulkarni", "Sona B. Nair", "Manasi Vijapurkar", "Leenam Mota", "Sharda Shanbhag", "Shehnaz Ali", "Shrimati D. Shetty", "Kanjaksha Ghosh"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0108683.t011", "stats"=>{"downloads"=>3, "page_views"=>21, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Comparison_of_percentage_distribution_of_Indian_RBD_mutations_with_HGMD_mutations_/1191126", "title"=>"Comparison of percentage distribution of Indian RBD mutations with HGMD mutations.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2014-10-02 02:47:40"}
• {"files"=>["https://ndownloader.figshare.com/files/1701618", "https://ndownloader.figshare.com/files/1701619"], "description"=>"<div><p>Background</p><p>Though rare in occurrence, patients with rare bleeding disorders (RBDs) are highly heterogeneous and may manifest with severe bleeding diathesis. Due to the high rate of consanguinity in many caste groups, these autosomal recessive bleeding disorders which are of rare occurrence in populations across the world, may not be as rare in India.</p><p>Objectives</p><p>To comprehensively analyze the frequency and nature of mutations in Indian patients with RBDs.</p><p>Methods</p><p>Pubmed search was used (<a href=\"http://www.pubmed.com\" target=\"_blank\">www.pubmed.com</a>) to explore the published literature from India on RBDs using the key words “rare bleeding disorders”, “mutations”, “India”, “fibrinogen”, “afibrinogenemia”, “factor II deficiency”, “prothrombin” “factor VII deficiency”, “factor V deficiency”, “factor X deficiency”, “factor XI deficiency”, “combined factor V and VIII deficiency”, “factor XIII deficiency”, “Bernard Soulier syndrome” and “Glanzmanns thrombasthenia” in different combinations. A total of 60 relevant articles could be retrieved. The distribution of mutations from India was compared with that of the world literature by referring to the Human Gene Mutation Database (HGMD) (<a href=\"http://www.hgmd.org\" target=\"_blank\">www.hgmd.org</a>).</p><p>Results</p><p>Taken together, 181 mutations in 270 patients with different RBDs have been reported from India. Though the types of mutations reported from India and their percentage distribution with respect to the world data are largely similar, yet much higher percentage of small deletions, duplication mutations, insertions, indels were observed in this analysis. Besides the identification of novel mutations and polymorphisms, several common mutations have also been reported, which will allow to develop a strategy for mutation screening in Indian patients with RBDs.</p><p>Conclusion</p><p>There is a need for a consortium of Institutions working on the molecular pathology of RBDs in India. This will facilitate a quicker and cheaper diagnosis of RBDs besides its utility in first trimester prenatal diagnosis of the affected families.</p></div>", "links"=>[], "tags"=>["factor", "vii", "Human Gene Mutation Database", "deficiency", "mutation", "ii", "xiii", "hgmd", "Indian patients", "Systematic Review BackgroundThough", "xi", "viii", "rbd", "Rare Bleeding Disorders"], "article_id"=>1191127, "categories"=>["Biological Sciences"], "users"=>["Bipin P. Kulkarni", "Sona B. Nair", "Manasi Vijapurkar", "Leenam Mota", "Sharda Shanbhag", "Shehnaz Ali", "Shrimati D. Shetty", "Kanjaksha Ghosh"], "doi"=>["https://dx.doi.org/10.1371/journal.pone.0108683.s001", "https://dx.doi.org/10.1371/journal.pone.0108683.s002"], "stats"=>{"downloads"=>2, "page_views"=>11, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Molecular_Pathology_of_Rare_Bleeding_Disorders_RBDs_in_India_A_Systematic_Review_/1191127", "title"=>"Molecular Pathology of Rare Bleeding Disorders (RBDs) in India: A Systematic Review", "pos_in_sequence"=>0, "defined_type"=>4, "published_date"=>"2014-10-02 02:47:40"}

PMC Usage Stats | Further Information

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Relative Metric

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F1000Prime