Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in Asia
Inherited bone marrow failure syndrome (IBMFS) including Shwachman Diamond Syndrome (SDS) can present initially to the hematologist with myelodysplastic syndrome (MDS). Accurate diagnosis affects choice of chemotherapy, donor selection, and transplant conditioning. We report a case of delayed diagno...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2018-01-01
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| Series: | Leukemia Research Reports |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2213048918300050 |
| _version_ | 1811266906440597504 |
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| author | Shin Yeu Ong Shao-Tzu Li Gee Chuan Wong Aloysius Yew Leng Ho Chandramouli Nagarajan Joanne Ngeow |
| author_facet | Shin Yeu Ong Shao-Tzu Li Gee Chuan Wong Aloysius Yew Leng Ho Chandramouli Nagarajan Joanne Ngeow |
| author_sort | Shin Yeu Ong |
| collection | DOAJ |
| description | Inherited bone marrow failure syndrome (IBMFS) including Shwachman Diamond Syndrome (SDS) can present initially to the hematologist with myelodysplastic syndrome (MDS). Accurate diagnosis affects choice of chemotherapy, donor selection, and transplant conditioning. We report a case of delayed diagnosis of SDS in a family with another child with aplastic anemia, and review reported cases of SDS in Asia. This highlights the gap in identifying inherited bone marrow failure syndromes in adults with hematologic malignancies. Keywords: Shwachman diamond syndrome, Inherited bone marrow failure syndrome, Telomere |
| first_indexed | 2024-04-12T20:51:48Z |
| format | Article |
| id | doaj.art-ae7983d680ca413c9f32cba88213f469 |
| institution | Directory Open Access Journal |
| issn | 2213-0489 |
| language | English |
| last_indexed | 2024-04-12T20:51:48Z |
| publishDate | 2018-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Leukemia Research Reports |
| spelling | doaj.art-ae7983d680ca413c9f32cba88213f4692022-12-22T03:17:07ZengElsevierLeukemia Research Reports2213-04892018-01-0195457Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in AsiaShin Yeu Ong0Shao-Tzu Li1Gee Chuan Wong2Aloysius Yew Leng Ho3Chandramouli Nagarajan4Joanne Ngeow5Department of Haematology, Singapore General Hospital, Singapore, SingaporeCancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, SingaporeDepartment of Haematology, Singapore General Hospital, Singapore, SingaporeDepartment of Haematology, Singapore General Hospital, Singapore, SingaporeDepartment of Haematology, Singapore General Hospital, Singapore, SingaporeCancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore; Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore; Corresponding author.Inherited bone marrow failure syndrome (IBMFS) including Shwachman Diamond Syndrome (SDS) can present initially to the hematologist with myelodysplastic syndrome (MDS). Accurate diagnosis affects choice of chemotherapy, donor selection, and transplant conditioning. We report a case of delayed diagnosis of SDS in a family with another child with aplastic anemia, and review reported cases of SDS in Asia. This highlights the gap in identifying inherited bone marrow failure syndromes in adults with hematologic malignancies. Keywords: Shwachman diamond syndrome, Inherited bone marrow failure syndrome, Telomerehttp://www.sciencedirect.com/science/article/pii/S2213048918300050 |
| spellingShingle | Shin Yeu Ong Shao-Tzu Li Gee Chuan Wong Aloysius Yew Leng Ho Chandramouli Nagarajan Joanne Ngeow Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in Asia Leukemia Research Reports |
| title | Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in Asia |
| title_full | Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in Asia |
| title_fullStr | Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in Asia |
| title_full_unstemmed | Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in Asia |
| title_short | Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in Asia |
| title_sort | delayed diagnosis of shwachman diamond syndrome with short telomeres and a review of cases in asia |
| url | http://www.sciencedirect.com/science/article/pii/S2213048918300050 |
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