Relationship between genotype variants and the age of first acute splenic sequestration in patients with sickle cell disease in a tertiary center of Saudi Arabia: A retrospective study

Q4 Medicine

Journal of Applied Hematology Pub Date : 2022-01-01 DOI:10.4103/joah.joah_244_20

Lobna Baitalmal, F. Al kasim, EatidalFathey Ghareeb, Fauzia Azmet, P. Jaganathan

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Abstract

BACKGROUND: Acute splenic sequestration crisis (ASSC) is one of the earliest life-threatening complications of sickle cell disease (SCD). Here, we aimed to identify the relation between the age of the first splenic sequestration episode and SCD variants. Episodes of acute splenic sequestration before 1 year of age are associated with a higher risk of recurrence. METHODS: We carried out a retrospective chart review study from the medical charts of SCD patients ≤12 years admitted to the Department of Pediatric Hematology King Saud Medical City, Riyadh with the first episode of ASSC and no other complications from January 2014 to December 2019. RESULTS: We included 47 patients (46.8% males, 53.2% females) diagnosed with SCD and having experienced their first ASSC in this review. The mean age of the patients at which the first episode of splenic sequestration happened was 3.26 years. The genotype distribution in the population was 74.5% HBSS, 21.3% HBS β0 thalassemia, and 4.3% HBSβ+ thalassemia. The crisis precipitated with fever in 74.5% of patients. Treatment included programmed blood transfusion (46.2%), splenectomy (29.8%). The recurrence rate after the first episode of ASSC was 59.6%. The high rate of recurrence was mainly due to the early age of presentation and poor compliance with suggested treatment. The use of hydroxyurea in 19.1% of patients showed a decrease of recurrence of ASSSC by 66.6% of patients. CONCLUSION: The study concluded that the HBSS variant of SCD had the earliest presentation with the first episode of ASSC but the differences were numerical without any statistical difference. Earlier age of presentation is associated with a higher rate of recurrence, but the difference was numerical not statistically significant. Our study shows hydroxyurea decreased recurrent splenic sequestrations; further research would help in establishing its role

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沙特阿拉伯一家三级中心镰状细胞病患者基因型变异与首次急性脾隔离年龄的关系：一项回顾性研究

背景：急性脾隔离危象（ASSC）是镰状细胞病（SCD）最早危及生命的并发症之一。在这里，我们旨在确定第一次脾隔离发作的年龄与SCD变异之间的关系。1岁前急性脾隔离症发作与复发风险较高有关。方法：我们对2014年1月至2019年12月在利雅得国王沙特医疗城儿科血液科住院的≤12岁的SCD患者的病历进行了回顾性病历回顾性研究，这些患者首次发作ASSC，没有其他并发症。结果：我们纳入了47名被诊断为SCD并经历过首次ASSC的患者（46.8%男性，53.2%女性）。首次发生脾隔离的患者平均年龄为3.26岁。人群中的基因型分布为74.5%HBSS、21.3%HBSβ0地中海贫血和4.3%HBSβ+地中海贫血。74.5%的患者因发烧而出现危机。治疗包括程序性输血（46.2%）、脾切除术（29.8%）。ASSC第一次发作后的复发率为59.6%。复发率高主要是由于患者年龄小，对建议治疗的依从性差。19.1%的患者使用羟基脲后，ASSSC的复发率降低了66.6%。结论：研究得出结论，SCD的HBSS变体最早出现在ASSC的第一次发作，但差异是数值上的，没有任何统计学差异。表现年龄越早，复发率越高，但这种差异在数值上并不显著。我们的研究表明羟基脲减少了复发性脾隔离；进一步的研究将有助于确立其作用

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