Hereditary elliptocytosis in a child with an autosomal recessive SPTA1 mutation: a case report from Saudi Arabia.

Q3 Medicine
Fahad Alamr
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Abstract

Hereditary elliptocytosis (HE) is a genetic red blood cell disorder characterized by elliptical-shaped cells. Clinical manifestations range from asymptomatic cases to severe hemolysis and are influenced by underlying gene mutations, including those in spectrin alpha, erythrocytic 1 (SPTA1). This case report examines whether zygosity of the mutation correlates with clinical severity. The case involved a comprehensive diagnostic approach including complete blood count, peripheral blood smear, sodium dodecyl sulfate-polyacrylamide gel electrophoresis, and whole exome sequencing using the CentoXome MOx Solo platform (CENTOGENE, Rostock, Germany). The analysis focused on coding regions and adjacent intronic nucleotides of genes associated with known phenotypes, specifically looking at the correlation between mutation zygosity and clinical severity. The patient, a 10-year-old Saudi male, presented with mild normocytic normochromic anemia and signs of extravascular hemolysis. A significant percentage of elliptocytes was noted on the blood smear. Genetic analysis revealed a homozygous likely pathogenic variant in the SPTA1 gene, specifically NM_003126.2.779T>C (p. Leu260Pro). This mutation is associated with autosomal recessive HE, suggesting a possible correlation between homozygosity and a more pronounced clinical presentation. Identifying a rare homozygous mutation in the SPTA1 gene confirms the diagnosis of autosomal recessive HE in a Saudi Arabian pediatric patient. It suggests a correlation between homozygosity and the severity of anemia and hemolysis.

Abstract Image

常染色体隐性SPTA1突变儿童的遗传性椭圆细胞增多症:沙特阿拉伯1例报告。
遗传性椭圆细胞病(HE)是一种以椭圆形细胞为特征的遗传性红细胞疾病。临床表现范围从无症状病例到严重溶血,并受潜在基因突变的影响,包括谱蛋白α,红细胞1 (SPTA1)的突变。本病例报告探讨突变的合子性是否与临床严重程度相关。该病例采用综合诊断方法,包括全血细胞计数、外周血涂片、十二烷基硫酸钠-聚丙烯酰胺凝胶电泳和使用CentoXome MOx Solo平台(CENTOGENE, Rostock, Germany)的全外显子组测序。分析的重点是与已知表型相关的基因的编码区和邻近的内含子核苷酸,特别关注突变合子性与临床严重程度之间的相关性。患者为一名10岁的沙特男性,表现为轻度正红细胞常色性贫血和血管外溶血症状。血涂片上可见明显比例的椭圆细胞。遗传分析显示在SPTA1基因中有一个纯合的可能致病变异,具体为NM_003126.2.779T>C (p. Leu260Pro)。该突变与常染色体隐性HE相关,提示纯合性与更明显的临床表现之间可能存在相关性。鉴定SPTA1基因的罕见纯合突变证实了沙特阿拉伯儿科患者常染色体隐性HE的诊断。这表明纯合性与贫血和溶血的严重程度有关。
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来源期刊
Journal of Medicine and Life
Journal of Medicine and Life Medicine-Medicine (all)
CiteScore
1.90
自引率
0.00%
发文量
202
期刊介绍: The Journal of Medicine and Life publishes peer-reviewed articles from various fields of medicine and life sciences, including original research, systematic reviews, special reports, case presentations, major medical breakthroughs and letters to the editor. The Journal focuses on current matters that lie at the intersection of biomedical science and clinical practice and strives to present this information to inform health care delivery and improve patient outcomes. Papers addressing topics such as neuroprotection, neurorehabilitation, neuroplasticity, and neuroregeneration are particularly encouraged, as part of the Journal''s continuous interest in neuroscience research. The Editorial Board of the Journal of Medicine and Life is open to consider manuscripts from all levels of research and areas of biological sciences, including fundamental, experimental or clinical research and matters of public health. As part of our pledge to promote an educational and community-building environment, our issues feature sections designated to informing our readers regarding exciting international congresses, teaching courses and relevant institutional-level events.
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