Institutional members access full text with Ovid®

Share this article on:

Sickle Cell Disease Subphenotypes in Patients From Southwestern Province of Saudi Arabia

Alsultan, Abdulrahman MD; Aleem, Aamer MBBS; Ghabbour, Hazem MSc; AlGahtani, Farjah H. MBBS; Al-Shehri, Ali MBBS; Osman, Mohamed Elfaki MBBS; Kurban, Kadijah MBBS; Alsultan, Mohammed S. PhD; Bahakim, Hasan MD; Al-Momen, AbdelKareem M. MBBS

Journal of Pediatric Hematology/Oncology: March 2012 - Volume 34 - Issue 2 - p 79–84
doi: 10.1097/MPH.0b013e3182422844
Original Articles

Sickle cell disease (SCD) is common in the Eastern and Southwestern (SW) Provinces of Saudi Arabia. We studied 159 patients with SCD to better characterize its phenotype in the SW Province, where patients usually have a HBB haplotype of African origin. All cases had history and examination, chart review, and laboratory testing. Blood tests were obtained during steady state and included: complete blood count, reticulocytes, hemoglobin electrophoresis, lactate dehydrogenase, and G6PD level. HBB haplotype and presence of α-thalassemia were also determined. Frequency of various SCD complications was as follows: painful episodes of variable severity occurred in majority of patients (98%), osteonecrosis (14%), acute chest syndrome (22%), splenic sequestration (23%), gallstones (34%), stroke (7.5%), priapism (2.6%), serious infections (11.5%), and persistent splenomegaly (11%) beyond 5 years of age. No patient had leg ulcer. History of asthma and high steady state white blood cells count were associated with increased risk of acute chest syndrome. Coinheritance of α-thalassemia was associated with a lower frequency of gallstones. Higher fetal hemoglobin level was associated with persistent splenomegaly but not with other complications. Splenic sequestration was more common among males and was associated with lower steady state hemoglobin. SCD phenotype in the SW Province is variable and comparable with African Americans except for the rarity of priapism and the absence of leg ulcers. Fetal hemoglobin level was not associated with SCD vaso-occlusive complications. New genetic modifiers and environmental factors might modulate the phenotype of SCD in Saudi Arabia.

*Sickle Cell Disease Research Center, College of Medicine, King Saud University

§College of Pharmacy

Department of Pediatrics

Department of Medicine, College of Medicine, King Saud University and King Khalid University Hospital, Riyadh, Saudi Arabia

The authors declare no conflict of interest.

Reprints: Abdulrahman Alsultan, MD, Department of Pediatrics, College of Medicine, King Saud University, PO Box 261691, Riyadh 11342, Saudi Arabia (e-mail:

Received November 25, 2010

Accepted October 18, 2011

Copyright © 2012 Wolters Kluwer Health, Inc. All rights reserved.