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

2023, Vol: 6, Issue: 2

6 / 2Current Issue Online First Archive Aims and Scope Abstracting & Indexing Most Accessed Articles Most Downloaded Articles Most Cited Articles

Required files to be uploaded

Title Page

Original Article

Online Publishing Date:
06 / 08 / 2024

JBCGenetics. 2024; 6(2):

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 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 two 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 dried blood spot samples.
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 Gaucher disease. She was a Saudi toddler with no family history of Gaucher disease, acid sphingomyelinase deficiency, or other genetic abnormalities. The Gaucher disease patient's neurological, cardiac, and skeletal examinations were normal.
Conclusion: This screening study paves the way for Gaucher disease screening in Saudi Arabia. It also emphasizes the importance of early diagnosis, proper care, and positive outcomes for Gaucher disease.

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

	ARTICLE TOOLS
	Abstract
	PDF Fulltext
	How to cite this article
	Citation Tools
	Related Records
	Articles by Hussain H Al Saeed Articles by Fahad Alabbas Articles by Ghaleb Elyamany Articles by Abdulrahman Alshehri Articles by Ahmed M Al-Suliman Articles by Ohoud F kashari Articles by Anees Malik Articles by Binyam Usman Articles by Maha Sallam Articles by Insherah Barnawi Articles by Ibrahim S Ghita Articles by Hassan Masmali Articles by Ayman Alhejazi
	on Google
	on Google Scholar

How to Cite this Article

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. Online First: 06 Aug, 2024. 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: August 07, 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. Online First: 06 Aug, 2024. 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, [cited August 07, 2024]; Online First: 06 Aug, 2024. 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, Online First: 06 Aug, 2024. 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, Online First: 06 Aug, 2024. 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 Online First: 06 Aug, 2024. 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 Online First: 06 Aug, 2024. Web. 07 Aug 2024 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, Online First: 06 Aug, 2024. doi:10.24911/JBCGenetics.183-1680730821

Most Viewed Articles

Most Accessed Articles

Frontonasal dysplasia: a review
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
JBCGenetics. 2018; 1(2): 66-76
» Abstract » doi: 10.24911/JBCGenetics/183-1530765389

The role of C-terminal tensin-like (Cten) gene in cancer metastasis
Saleh Alghamdi, Sarah Alkwai, Mohammad Ilyas
JBCGenetics. 2018; 1(1): 2-9
» Abstract » doi: 10.24911/JBCGenetics/183-1531548689

Clinical reassessment of post-laboratory variant call format (VCF) files
Lamia Alsubaie, Saeed Alturki, Ali Alothaim, Ahmed Alfares
JBCGenetics. 2018; 1(1): 31-36
» Abstract » doi: 10.24911/JBCGenetics/183-1529928114

Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes
AlAnoud Al-Jarbou, Afnan Al-Turki, Suha Tashkandi, Eissa A. Faqeih
JBCGenetics. 2018; 1(1): 37-39
» Abstract » doi: 10.24911/JBCGenetics/183-1530040885

Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern
Maram Alojair, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, Brahim Tabarki
JBCGenetics. 2018; 1(1): 40-42
» Abstract » doi: 10.24911/JBCGenetics/183-1531469195

Most Downloaded

Top Downloaded Articles

Frontonasal dysplasia: a review
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
JBCGenetics. 2018; 1(2): 66-76
» Abstract » doi: 10.24911/JBCGenetics/183-1530765389

Generation of a mouse model of Primary Hyperoxaluria Type 1 via CRISPR/Cas9 mediated gene editing
Kimberly A Coughlan, Rajanikanth J Maganti, Andrea Frassetto, Christine M DeAntonis, meredith Wolfrom, Anne-Renee Graham, Shawn M Hillier, Steven Fortucci, Hoor Al Jandal, Sue-Jean Hong, Paloma H Giangrande, Paolo GV Martini,
JBCGenetics. 2019; 2(1): 28-39
» Abstract » doi: 10.24911/JBCGenetics/183-1542047633

Syndactyly genes and classification: a mini review
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Safdar Abbas
JBCGenetics. 2018; 1(1): 10-18
» Abstract » doi: 10.24911/JBCGenetics/183-1532177257

Consanguinity, awareness, and genetic disorders among female university students in Riyadh, Saudi Arabia
Hadil Alahdal, Huda Alshanbari, Hana Saud Almazroa, Sarah Majed Alayesh, Alaa Mohammad Alrhaili, Nora Alqubi, Fai Fahad Alzamil, Reem Albassam
JBCGenetics. 2021; 4(1): 27-34
» Abstract » doi: 10.24911/JBCGenetics/183-1601264923

Most Cited Articles

Most Cited Articles

Frontonasal dysplasia: a review
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
JBCGenetics. 2018; 1(2): 66-76
» Abstract » doi: 10.24911/JBCGenetics/183-1530765389
Cited : 4 times [Click to see citing articles]

Genomics in Saudi Arabia Call for Data-Sharing Policy
Ahmed Alfares,
JBCGenetics. 2018; 1(2): 51-52
» Abstract » doi: 10.24911/JBCGenetics/183-1546945268
Cited : 4 times [Click to see citing articles]

Harel-Yoon syndrome: the first case report from Saudi Arabia
Alaa AlAyed, Manar A. Samman, Abdul Ali Peer-Zada, Mohammed Almannai
JBCGenetics. 2020; 3(1): 22-27
» Abstract » doi: 10.24911/JBCGenetics/183-1585816398
Cited : 2 times [Click to see citing articles]

About Journal of Biochemical and Clinical Genetics

The Journal of Biochemical and Clinical Genetics (JBCGenetics) is a peer-reviewed, open access medical journal. Owner: Saudi Society of Medical ... Read more.

For best results, please use Internet Explorer or Google Chrome.

Contact Information

Title Owner: Saudi Society of Medical Genetics

https://ssmg.org.sa/en

Society Email: info@ssmg.org.sa

Editor in Chief: dralfadhelm@jbcgenetics.com

Contact the publisher:

contact@discoverpublish.com
https://discoverpublish.com/

Publisher: Discover STM Publishing Ltd,

82 Leslie's Arch, Old Quarter, Ballincollig, Cork, P31 RY62, Ireland.

Hours: M-F: 8:30am - 5:30pm

Contact Emails:

Journal Editorial Office: contact@jbcgenetics.com

Billing Support: contact@discoverpublish.com

Technical Support:
anastasiia.pavlenco@sofiafields.com
https://sofiafields.com/

POLICIES & JOURNAL LINKS

About Journal of Biochemical and Clinical Genetics

Contact Information

How to cite this article