纯合子α-Spectrin (SPTA1)变异引起新生儿持久性遗传性焦样细胞增多症1例报告及文献复习

IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL
International Medical Case Reports Journal Pub Date : 2025-10-10 eCollection Date: 2025-01-01 DOI:10.2147/IMCRJ.S483359
Jamal Sayed, Alanoud Sulaiman Alabdulhadi, Waheed Abdullah Alzahrani, Faisal Joueidi, Ghaida Ali Alzahrani, Ahmed Gamal Sayed, Gamal T Ebid
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引用次数: 0

摘要

遗传性焦样细胞增多症是一种罕见的遗传性严重溶血性贫血,与红细胞膜紊乱有关。这种紊乱的膜是由于定量和定性α-谱蛋白缺陷,与SPTA1基因的纯合或双杂合突变有关。以红细胞明显的异位、异位和热敏性为特征,常导致严重的溶血性贫血和新生儿黄疸。我们报告的情况下,足月新生儿入院在生命的第一天新生儿重症监护病房显著黄疸和贫血。外周血涂片显示严重贫血伴明显的异角细胞增多和中度椭圆细胞增多,提示遗传性红细胞膜紊乱。全外显子组测序(WES)确实鉴定出SPTA1基因纯合子可能致病性错义变异p. (Leu260Pro),证实了遗传性焦样细胞增多症的诊断。病人在住院期间接受了强化光疗和红细胞输注。在18个月的随访期间,婴儿保持临床稳定,无需进一步输血。然而,在随访期间,与HPP相符的特征往往持续存在,突出了本病例疾病的慢性性质。此外,它强调考虑罕见的遗传性原因溶血性贫血的新生儿呈现早发性黄疸和贫血的重要性。这突出了基因检测在确认spta1相关疾病中的诊断价值。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Homozygous α-Spectrin (SPTA1) Variant Causing Persistent Hereditary Pyropoikilocytosis in a Newborn: A Case Report and Literature Review.

Hereditary pyropoikilocytosis is an inherited, rare form of severe hemolytic anemia that is associated with a disordered erythrocyte membrane. Such a disordered membrane is due to the quantitative and qualitative α-spectrin defects that associate with homozygous or doubly heterozygous mutations in the SPTA1 gene. Characterized by marked poikilocytosis, anisocytosis, and thermal sensitivity of erythrocytes, often leading to severe hemolytic anemia and neonatal jaundice. We report the case of a full-term newborn admitted in the first day of life to the neonatal intensive care unit with significant jaundice and anemia. Peripheral blood smear revealed severe anemia with pronounced anisopoikilocytosis and moderate elliptocytosis, suggestive of a hereditary RBC membrane disorder. The whole exome sequencing (WES) did identify a SPTA1 gene homozygous likely pathogenic missense variant, p. (Leu260Pro) confirming the diagnosis of hereditary pyropoikilocytosis. The patient received intensive phototherapy and a red blood cell transfusion during hospitalization. Over an 18-month follow-up period, the infant remained clinically stable with no further transfusion requirements. However, the features consistent with HPP tended to be persistent during the follow‑up, highlighting the chronic nature of the disorder in this case. Furthermore, it underscores the importance of considering rare hereditary causes of hemolytic anemia in neonates presenting with early-onset jaundice and anemia. It highlights the diagnostic value of genetic testing in confirming SPTA1-related disorders.

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来源期刊
International Medical Case Reports Journal
International Medical Case Reports Journal MEDICINE, GENERAL & INTERNAL-
CiteScore
1.40
自引率
0.00%
发文量
135
审稿时长
16 weeks
期刊介绍: International Medical Case Reports Journal is an international, peer-reviewed, open access, online journal publishing original case reports from all medical specialties. Submissions should not normally exceed 3,000 words or 4 published pages including figures, diagrams and references. As of 1st April 2019, the International Medical Case Reports Journal will no longer consider meta-analyses for publication.
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