The Sub-Phenotypes of Sickle Cell Disease in Kuwait
Affiliations
Affiliations
- Department of Pediatrics, Faculty of Medicine , Kuwait University , Safat , Kuwait.
- Pediatric Hematology Unit , Mubarak Al-Kabeer Hospital , Jabriya , Kuwait.
- Department of Pathology, Faculty of Medicine , Kuwait University , Jabriya , Kuwait.
Abstract
Kuwaiti patients with sickle cell disease generally have a mild phenotype, but exhibit considerable heterogeneity, in spite of high Hb F levels. We have carried out a cross-sectional study of patients with sickle cell disease in the five major hospitals in Kuwait. Details of their hemoglobin (Hb) genotypes, clinical presentations and complications are presented. The study was over a span of 3 years and involved 396 patients, made up of 351 (88.6%) Kuwaitis and 45 (11.4%) expatriates. They were aged <1 to 73 years. Hb SS (βS/βS) was the most common (in 246 patients, i.e. 62.1%) followed by Hb S (HBB: c.20A>T)-β-thalassemia (Hb S-β-thal) in 138 (34.8%) and 11 (2.8%) Hb S/Hb D-Punjab (HBB: c.364G>C). Hb F ranged from 1.0 to 55.0%, with a mean of 21.2 ± 9.8%. The most common presentation was vaso-occlusive crises (VOCs), with 230 (54.8%) having had at least one prior to the study with 54 (13.2%) and 74 (18.9%) having between 2-3 and >3 VOCs, respectively. Hydroxyurea (HU) was prescribed to 157 (39.6%) patients. The most common complication was gallstones in 131 (33.1%), followed by acute splenic sequestration in 26.8% and avascular necrosis of the femoral head in 21.2% patients, respectively. Stroke, priapism and leg ulcers were rare. Gallstones, splenic sequestration and osteonecrosis were significantly more common in patients aged >16 years. Patients with Hb S-β-thal were similar to those with Hb SS in their clinical profiles. The phenotypic expression of sickle cell disease in Kuwaitis is unique in many respects. The role(s) of Hb F and other genetic modifiers require further elucidation.
Keywords: High Hb F levels; Kuwait; sickle cell disease.
Similar articles
Limitations of Hb F as a phenotypic modifier in sickle cell disease: study of Kuwaiti Arab patients.
Adekile AD.Hemoglobin. 2011;35(5-6):607-17. doi: 10.3109/03630269.2011.617230. Epub 2011 Oct 14.PMID: 21999156
Bender MA, Carlberg K.2003 Sep 15 [updated 2022 Nov 17]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023.PMID: 20301551 Free Books & Documents. Review.
Hb S (HBB: c.20A>T) and α- and β-Thalassemia Coinheritance in Iranian Patients.
Azarkeivan A, Cohan N, Niazkar HR, Azizi A, Rad F.Hemoglobin. 2020 Mar;44(2):109-112. doi: 10.1080/03630269.2020.1757462. Epub 2020 May 6.PMID: 32370567
Does elevated hemoglobin F modulate the phenotype in Hb SD-Los Angeles?
Adekile A, Mullah-Ali A, Akar NA.Acta Haematol. 2010;123(3):135-9. doi: 10.1159/000276998. Epub 2010 Jan 21.PMID: 20110664
Sickle hemoglobin (HbS) allele and sickle cell disease: a HuGE review.
Ashley-Koch A, Yang Q, Olney RS.Am J Epidemiol. 2000 May 1;151(9):839-45. doi: 10.1093/oxfordjournals.aje.a010288.PMID: 10791557 Review.
Cited by
Asbeutah AM, Zahra AM, Al-Abboh H, AlMajran AA, Adekile A.Health Sci Rep. 2023 Mar 27;6(3):e1159. doi: 10.1002/hsr2.1159. eCollection 2023 Mar.PMID: 36992713 Free PMC article.
Ata F, Rahhal A, Malkawi L, Iqbal P, Khamees I, Alhiyari M, Yousaf Z, Qasim H, Alshurafa A, Sardar S, Javed S, Fernyhough L, Yassin M.Pharmgenomics Pers Med. 2023 Feb 21;16:133-144. doi: 10.2147/PGPM.S391394. eCollection 2023.PMID: 36851992 Free PMC article. Review.
Pediatric Sickle Cell Disease and Stroke: A Literature Review.
Parikh T, Goti A, Yashi K, Gopalakrishnan Ravikumar NP, Parmar N, Dankhara N, Satodiya V.Cureus. 2023 Jan 20;15(1):e34003. doi: 10.7759/cureus.34003. eCollection 2023 Jan.PMID: 36811060 Free PMC article. Review.
Epidemiology of Stroke in Sickle Cell Disease.
Kirkham FJ, Lagunju IA.J Clin Med. 2021 Sep 18;10(18):4232. doi: 10.3390/jcm10184232.PMID: 34575342 Free PMC article. Review.
Kuikel S, Rauniyar R, Kharel S, Bist A, Giri S, Thapaliya S, Paudel S.Neurol Res Int. 2021 Jun 3;2021:9961610. doi: 10.1155/2021/9961610. eCollection 2021.PMID: 34150339 Free PMC article. Review
References
https://pubmed.ncbi.nlm.nih.gov/