Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia

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

doi:10.24911/JBCGenetics.183-1680730821

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Original Article
Online Published: 06 Aug 2024

JBCGenetics. 2024; 7(1): 001-009

doi: 10.24911/JBCGenetics.183-1680730821

Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia

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.

Abstract
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.

Key words: Gaucher Disease, splenomegaly, thrombocytopenia, Saudi Arabia.

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Pubmed Style

HHAS, Alabbas F, Elyamany G, Alshehri A, Al-Suliman AM, kashari OF, Malik A, Usman B, Sallam M, Barnawi I, Ghita IS, Masmali H, Alhejazi A. Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia. JBCGenetics. 2024; 7(1): 001-009. doi:10.24911/JBCGenetics.183-1680730821

Web Style

HHAS, Alabbas F, Elyamany G, Alshehri A, Al-Suliman AM, kashari OF, Malik A, Usman B, Sallam M, Barnawi I, Ghita IS, Masmali H, Alhejazi A. Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia. https://www.jbcgenetics.com/?mno=148648 [Access: November 14, 2024]. doi:10.24911/JBCGenetics.183-1680730821

AMA (American Medical Association) Style

HHAS, Alabbas F, Elyamany G, Alshehri A, Al-Suliman AM, kashari OF, Malik A, Usman B, Sallam M, Barnawi I, Ghita IS, Masmali H, Alhejazi A. Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia. JBCGenetics. 2024; 7(1): 001-009. doi:10.24911/JBCGenetics.183-1680730821

Vancouver/ICMJE Style

HHAS, Alabbas F, Elyamany G, Alshehri A, Al-Suliman AM, kashari OF, Malik A, Usman B, Sallam M, Barnawi I, Ghita IS, Masmali H, Alhejazi A. Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia. JBCGenetics. (2024), [cited November 14, 2024]; 7(1): 001-009. doi:10.24911/JBCGenetics.183-1680730821

Harvard Style

, H. H. A. S., Alabbas, . F., Elyamany, . G., Alshehri, . A., Al-Suliman, . A. M., kashari, . O. F., Malik, . A., Usman, . B., Sallam, . M., Barnawi, . I., Ghita, . I. S., Masmali, . H. & Alhejazi, . A. (2024) Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia. JBCGenetics, 7 (1), 001-009. doi:10.24911/JBCGenetics.183-1680730821

Turabian Style

, 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, and Ayman Alhejazi. 2024. Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia. Journal of Biochemical and Clinical Genetics, 7 (1), 001-009. doi:10.24911/JBCGenetics.183-1680730821

Chicago Style

, 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, and 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 7 (2024), 001-009. doi:10.24911/JBCGenetics.183-1680730821

MLA (The Modern Language Association) Style

, 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, and 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 7.1 (2024), 001-009. Print. doi:10.24911/JBCGenetics.183-1680730821

APA (American Psychological Association) Style

, H. H. A. S., Alabbas, . F., Elyamany, . G., Alshehri, . A., Al-Suliman, . A. M., kashari, . O. F., Malik, . A., Usman, . B., Sallam, . M., Barnawi, . I., Ghita, . I. S., Masmali, . H. & Alhejazi, . A. (2024) Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia. Journal of Biochemical and Clinical Genetics, 7 (1), 001-009. doi:10.24911/JBCGenetics.183-1680730821

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