婴儿早期镰状细胞病1例报告

IF 1.7 Q2 PEDIATRICS Pediatric health, medicine and therapeutics Pub Date : 2022-01-01 DOI:10.2147/PHMT.S388147
Seke G Y Muzazu, Masuzyo Chirwa, Shalom Khatanga-Chihana, Masiliso Munyinda, Michelo Simuyandi
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引用次数: 1

摘要

镰状细胞病(SCD)是指一组遗传性疾病,导致血红蛋白运载缺陷的红细胞。本文讨论了婴儿期早期SCD的非典型表现。尽管目前的文献表明胎儿血红蛋白在生命的最初几个月起保护作用,但我们报告了2个月大时诊断为SCD,症状严重需要住院治疗。因此,对于临床医生来说,提高他们的临床指标,怀疑患有严重贫血的儿童,即使他们小于6个月大,没有表现出典型的指炎或疼痛综合征,也是很重要的。在发展中国家扩大和持续开展新生儿SCD筛查项目,可以帮助临床医生和家长制定早期治疗、适当预防和改善SCD并发症管理的计划。
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Sickle Cell Disease in Early Infancy: A Case Report.

Sickle cell disease (SCD) refers to a group of hereditary disorders that result in faulty hemoglobin carriage by the red blood cells. This paper discusses an atypical presentation of SCD in early infancy. Despite current literature suggesting protection by fetal hemoglobin in the first few months of life, we report a diagnosis of SCD at 2 months of age with severe symptoms requiring hospitalization. It is therefore important for clinicians to raise their clinical index of suspicion of SCD in children presenting with severe anemia even though they are less than 6 months old and do not present with classic dactylitis or pain syndromes. Expansion and sustained newborn screening programs for SCD in developing countries could help clinicians and parents plan for early treatment, appropriate prophylaxis, and improved management of SCD complications.

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