Hereditary thrombotic thrombocytopenic purpura mimicking immune thrombocytopenia was revealed by miscarriage—novel compound heterozygous mutations in hTTP
Abstract We report a case of early-onset hereditary thrombotic thrombocytopenic purpura in a 16-year-old girl who suffered from thrombocytopenia and was misdiagnosed with immune thrombocytopenia for years until two failed gestations finally revealed the underlying cause. The novel compound heterozyg...
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| Language: | English |
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BMC
2024-11-01
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| Series: | BMC Medical Genomics |
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| Online Access: | https://doi.org/10.1186/s12920-024-02051-x |
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| author | Ruiqing Zhou Jiahuan Wang Ahui Wang Shunqing Wang Yumiao Li Shilin Xu Wenjian Mo |
| author_facet | Ruiqing Zhou Jiahuan Wang Ahui Wang Shunqing Wang Yumiao Li Shilin Xu Wenjian Mo |
| author_sort | Ruiqing Zhou |
| collection | DOAJ |
| description | Abstract We report a case of early-onset hereditary thrombotic thrombocytopenic purpura in a 16-year-old girl who suffered from thrombocytopenia and was misdiagnosed with immune thrombocytopenia for years until two failed gestations finally revealed the underlying cause. The novel compound heterozygous mutation c.2865G > A:p.Trp955X and c.721delG: p.Gly241fs in the ADAMTS13 gene were identified and are predicted to be associated with this disease. The patient responded to plasma therapy, including plasma infusion and plasma exchange, but renal dysfunction may be longstanding. |
| format | Article |
| id | doaj-art-bc57cb37dc134bd6b662bf4a8a478a3d |
| institution | OA Journals |
| issn | 1755-8794 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genomics |
| spelling | doaj-art-bc57cb37dc134bd6b662bf4a8a478a3d2025-08-20T02:38:35ZengBMCBMC Medical Genomics1755-87942024-11-011711710.1186/s12920-024-02051-xHereditary thrombotic thrombocytopenic purpura mimicking immune thrombocytopenia was revealed by miscarriage—novel compound heterozygous mutations in hTTPRuiqing Zhou0Jiahuan Wang1Ahui Wang2Shunqing Wang3Yumiao Li4Shilin Xu5Wenjian Mo6Department of Hematology, Guangzhou First People’s HospitalDepartment of Endocrinology, Huizhou Central People’s HospitalDepartment of Clinical Laboratory, Guangzhou First People’s HospitalDepartment of Hematology, Guangzhou First People’s HospitalDepartment of Hematology, Guangzhou First People’s HospitalDepartment of Hematology, Guangzhou First People’s HospitalDepartment of Hematology, Guangzhou First People’s HospitalAbstract We report a case of early-onset hereditary thrombotic thrombocytopenic purpura in a 16-year-old girl who suffered from thrombocytopenia and was misdiagnosed with immune thrombocytopenia for years until two failed gestations finally revealed the underlying cause. The novel compound heterozygous mutation c.2865G > A:p.Trp955X and c.721delG: p.Gly241fs in the ADAMTS13 gene were identified and are predicted to be associated with this disease. The patient responded to plasma therapy, including plasma infusion and plasma exchange, but renal dysfunction may be longstanding.https://doi.org/10.1186/s12920-024-02051-xHereditary thrombotic thrombocytopenic purpuraImmune thrombocytopeniaADAMTS13MutationPlasma infusion |
| spellingShingle | Ruiqing Zhou Jiahuan Wang Ahui Wang Shunqing Wang Yumiao Li Shilin Xu Wenjian Mo Hereditary thrombotic thrombocytopenic purpura mimicking immune thrombocytopenia was revealed by miscarriage—novel compound heterozygous mutations in hTTP BMC Medical Genomics Hereditary thrombotic thrombocytopenic purpura Immune thrombocytopenia ADAMTS13 Mutation Plasma infusion |
| title | Hereditary thrombotic thrombocytopenic purpura mimicking immune thrombocytopenia was revealed by miscarriage—novel compound heterozygous mutations in hTTP |
| title_full | Hereditary thrombotic thrombocytopenic purpura mimicking immune thrombocytopenia was revealed by miscarriage—novel compound heterozygous mutations in hTTP |
| title_fullStr | Hereditary thrombotic thrombocytopenic purpura mimicking immune thrombocytopenia was revealed by miscarriage—novel compound heterozygous mutations in hTTP |
| title_full_unstemmed | Hereditary thrombotic thrombocytopenic purpura mimicking immune thrombocytopenia was revealed by miscarriage—novel compound heterozygous mutations in hTTP |
| title_short | Hereditary thrombotic thrombocytopenic purpura mimicking immune thrombocytopenia was revealed by miscarriage—novel compound heterozygous mutations in hTTP |
| title_sort | hereditary thrombotic thrombocytopenic purpura mimicking immune thrombocytopenia was revealed by miscarriage novel compound heterozygous mutations in http |
| topic | Hereditary thrombotic thrombocytopenic purpura Immune thrombocytopenia ADAMTS13 Mutation Plasma infusion |
| url | https://doi.org/10.1186/s12920-024-02051-x |
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