Centro de Investigação em Saúde de Angola (CISA), Caxito, Angola; Hospital Pediátrico David Bernardino (HPDB), Luanda, Angola; Global Health and Tropical Medicine (GHTM), Associate Laboratory in Translation and Innovation Towards Global Health (LA-REAL), Instituto de Higiene e Medicina Tropical (IHMT), Universidade NOVA de Lisboa (UNL), Lisbon, Portugal.
H&TRC - Health & Technology Research Center, ESTeSL - Escola Superior de Tecnologia da Saúde, Instituto Politécnico de Lisboa, Lisbon, Portugal.
Blood Cells Mol Dis. 2024 Mar;105:102822. doi: 10.1016/j.bcmd.2023.102822. Epub 2024 Jan 4.
Sickle Cell Anemia (SCA) is a monogenic disease, although its severity and response to treatment are very heterogeneous.
This study aims to characterize a cohort of Angolan children with SCA and evaluate their response to hydroxyurea (HU) treatment and the potential side effects and toxicity.
The study enrolled 215 patients between 3 and 12 years old before and after the administration of HU, at a fix dose of 20 mg/kg/day for 12 months.
A total of 157 patients started HU medication and 141 of them completed the 12-month treatment. After initiating HU treatment, the frequency of clinical events decreased (transfusions 53.4 %, hospitalizations 47.1 %). The response to HU medication varied among patients, with some experiencing an increase in fetal hemoglobin (HbF) of <5 %. The mean increase in HbF was 11.9 %, ranging from 1.8 % to 31 %. Responders to HU treatment were 57 %, inadequate responders 38.7 % and non-adherent 4.2 %. No clinical side effects related to HU were reported. Hematological toxicities were transient and reversible. Children naïve to HU and with lower HbF reported higher number of hospitalizations caused by malaria infection. During HU treatment, the frequency of malaria episodes did not appear to be affected by HbF levels.
the present study provided a valuable contribution to the understanding of the clinical and laboratory profiles of Angolan children with SCA. These findings support the evidence that the implementation of prophylactic measures and treatment with HU is associated with increased survival in children with SCA.
镰状细胞贫血症（SCA）是一种单基因疾病，但其严重程度和治疗反应差异很大。
本研究旨在描述一组安哥拉儿童 SCA 患者的特征，并评估其对羟基脲（HU）治疗的反应以及潜在的副作用和毒性。
研究纳入了 215 名年龄在 3 至 12 岁之间的患者，在 HU 给药前后各 12 个月，固定剂量为 20mg/kg/天。
共有 157 名患者开始服用 HU 药物，其中 141 名完成了 12 个月的治疗。开始 HU 治疗后，临床事件的频率降低（输血 53.4%，住院 47.1%）。HU 药物治疗的反应在患者之间存在差异，一些患者的胎儿血红蛋白（HbF）增加<5%。HbF 的平均增加量为 11.9%，范围为 1.8%至 31%。对 HU 治疗有反应的患者占 57%，反应不足的患者占 38.7%，不依从的患者占 4.2%。未报告与 HU 相关的临床副作用。血液学毒性是短暂和可逆的。对 HU 无经验且 HbF 较低的儿童因疟疾感染而住院的次数较多。在 HU 治疗期间，疟疾发作的频率似乎不受 HbF 水平的影响。
本研究为了解安哥拉 SCA 儿童的临床和实验室特征提供了有价值的贡献。这些发现支持了实施预防性措施和 HU 治疗与 SCA 儿童生存率提高相关的证据。
