Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia
Background: Many uncommon metabolic disorders have a high prevalence in Arab countries due to the high rate of consanguineous marriages. This study aimed to assess the prevalence of Gaucher disease (GD) in patients with splenomegaly and/or thrombocytopenia of unknown cause in Saudi Arabia. Methods:...
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| Format: | Article |
| Language: | English |
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Discover STM Publishing Ltd
2024-02-01
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| Series: | Journal of Biochemical and Clinical Genetics |
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| Online Access: | https://www.jbcgenetics.com/?mno=148648 |
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| author | Hussain H. Al Saeed Fahad Alabbas Ghaleb Elyamany Abdulrahman Alshehri Ahmed M. Al-Suliman Ohoud F. kashari Anees Malik Binyam Usman Maha Sallam Insherah Barnawi Ibrahim S. Ghita Hassan Masmali Ayman Alhejazi |
| author_facet | Hussain H. Al Saeed Fahad Alabbas Ghaleb Elyamany Abdulrahman Alshehri Ahmed M. Al-Suliman Ohoud F. kashari Anees Malik Binyam Usman Maha Sallam Insherah Barnawi Ibrahim S. Ghita Hassan Masmali Ayman Alhejazi |
| author_sort | Hussain H. Al Saeed |
| collection | DOAJ |
| description | Background: Many uncommon metabolic disorders have a high prevalence in Arab countries due to the high rate of consanguineous marriages. This study aimed to assess the prevalence of Gaucher disease (GD) in patients with splenomegaly and/or thrombocytopenia of unknown cause in Saudi Arabia.
Methods: This screening study was conducted in 13 hematology and hematopathology centers in Saudi Arabia over 2 years. Patients with splenomegaly and/or thrombocytopenia of unknown cause for at least a year were included. Enzyme activity in eligible patients was assessed using a dried blood spot sample.
Results: Out of 390 patients, 87.4% had thrombocytopenia. In comparison, 8.8% had a history of splenectomy, and nearly 67.7% had splenomegaly. Fatigue, bone crises, and abdominal pain were commonly reported among adult patients. Anemia was the most common symptom among pediatric patients, followed by splenomegaly and easy bruising or bleeding. One patient was found to have GD. She was a Saudi toddler with no family history of GD, acid sphingomyelinase deficiency, or other genetic abnormalities. The GD patient's neurological, cardiac, and skeletal examinations were normal.
Conclusion: This screening study paves the way for GD screening in Saudi Arabia. It also emphasizes the importance of early diagnosis, proper care, and positive outcomes for GD. [JBCGenetics 2024; 7(1.000): 003-011] |
| format | Article |
| id | doaj-art-065fa635d3384b6e9a9cd1b3e0ed95b3 |
| institution | OA Journals |
| issn | 1658-807X 1658-8088 |
| language | English |
| publishDate | 2024-02-01 |
| publisher | Discover STM Publishing Ltd |
| record_format | Article |
| series | Journal of Biochemical and Clinical Genetics |
| spelling | doaj-art-065fa635d3384b6e9a9cd1b3e0ed95b32025-08-20T02:10:08ZengDiscover STM Publishing LtdJournal of Biochemical and Clinical Genetics1658-807X1658-80882024-02-017100301110.24911/JBCGenetics.183-1680730821148648Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi ArabiaHussain H. Al Saeed0Fahad Alabbas1Ghaleb Elyamany2Abdulrahman Alshehri3Ahmed M. Al-Suliman4Ohoud F. kashari5Anees Malik6Binyam Usman7Maha Sallam8Insherah Barnawi9Ibrahim S. Ghita10Hassan Masmali11Ayman Alhejazi12Department of Medicine, Qatif Central Hospital, Qatif, Saudi Arabia Department of Pediatrics, Hematology and Oncology Division, Prince Sultan Military Medical City, Riyadh, Saudi Arabia Department of Pathology and Laboratory Medicine, Prince Sultan Military Medical City, Riyadh, Saudi Arabia Department of Hematology and Oncology, Asir Central Hospital, Abha, Saudi Arabia. Medical Department, Prince Saud Bin Jalawy Hospital, Hofuf, Saudi Arabia Department of Hematology, Al Aziziyah children hospital, Jeddah, Saudi Arabia Department of Medicine, Ministry of National Guard Health Affairs, King Saud Bin AbdulAziz University for Health Sciences, King Abdullah International Medical Research Centre, Saudi Arabia Department of Oncology, King Faisal Specialist Hospital, Jeddah, Saudi Arabia Head of hematopathology and coagulopathy unit, King Fahd Hospital, Hofuf, Saudi Arabia Hematology Department, King Fahd Hospital, Medina, Saudi Arabia Department of Adult Hematology, Al Noor Specialist hospital, Mecca, Saudi Arabia Department of Pediatric, Maternity and Children Hospital, Mecca, Saudi Arabia King Saud bin Abdulaziz University for Health Sciences, Division of Adult Hematology, National Guard - Health Affairs, Riyadh, Saudi Arabia.Background: Many uncommon metabolic disorders have a high prevalence in Arab countries due to the high rate of consanguineous marriages. This study aimed to assess the prevalence of Gaucher disease (GD) in patients with splenomegaly and/or thrombocytopenia of unknown cause in Saudi Arabia. Methods: This screening study was conducted in 13 hematology and hematopathology centers in Saudi Arabia over 2 years. Patients with splenomegaly and/or thrombocytopenia of unknown cause for at least a year were included. Enzyme activity in eligible patients was assessed using a dried blood spot sample. Results: Out of 390 patients, 87.4% had thrombocytopenia. In comparison, 8.8% had a history of splenectomy, and nearly 67.7% had splenomegaly. Fatigue, bone crises, and abdominal pain were commonly reported among adult patients. Anemia was the most common symptom among pediatric patients, followed by splenomegaly and easy bruising or bleeding. One patient was found to have GD. She was a Saudi toddler with no family history of GD, acid sphingomyelinase deficiency, or other genetic abnormalities. The GD patient's neurological, cardiac, and skeletal examinations were normal. Conclusion: This screening study paves the way for GD screening in Saudi Arabia. It also emphasizes the importance of early diagnosis, proper care, and positive outcomes for GD. [JBCGenetics 2024; 7(1.000): 003-011]https://www.jbcgenetics.com/?mno=148648gaucher diseasesplenomegalythrombocytopeniasaudi arabia |
| spellingShingle | Hussain H. Al Saeed Fahad Alabbas Ghaleb Elyamany Abdulrahman Alshehri Ahmed M. Al-Suliman Ohoud F. kashari Anees Malik Binyam Usman Maha Sallam Insherah Barnawi Ibrahim S. Ghita Hassan Masmali Ayman Alhejazi Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia Journal of Biochemical and Clinical Genetics gaucher disease splenomegaly thrombocytopenia saudi arabia |
| title | Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia |
| title_full | Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia |
| title_fullStr | Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia |
| title_full_unstemmed | Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia |
| title_short | Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia |
| title_sort | prevalence of gaucher disease in patients with unknown cause of splenomegaly and or thrombocytopenia in saudi arabia |
| topic | gaucher disease splenomegaly thrombocytopenia saudi arabia |
| url | https://www.jbcgenetics.com/?mno=148648 |
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