التفاصيل البيبلوغرافية
| العنوان: |
Compound Heterozygosity for KLF1 Mutations Causing Hemolytic Anemia in Children: A Case Report and Literature Review |
| المؤلفون: |
Linlin Xu, Dina Zhu, Yanxia Zhang, Guanxia Liang, Min Liang, Xiaofeng Wei, Xiaoqing Feng, Xuedong Wu, Xuan Shang |
| المصدر: |
Frontiers in Genetics, Vol 12 (2021) |
| بيانات النشر: |
Frontiers Media S.A., 2021. |
| سنة النشر: |
2021 |
| المجموعة: |
LCC:Genetics |
| مصطلحات موضوعية: |
KLF1, compound heterozygote, hereditary hemolytic anemia, children, chronic non-spherocytic hemolytic anemia, β-thalassemia, Genetics, QH426-470 |
| الوصف: |
BackgroundAnemia is one of the most common diseases affecting children worldwide. Hereditary forms of anemia due to gene mutations are difficult to diagnose because they only rely on clinical manifestations. In regions with high prevalence of thalassemia such as southern China, pediatric patients with a hereditary hemolytic anemia (HHA) phenotype are often diagnosed with β-thalassemia. However, HHA can be caused by other gene defects. Here, a case previously diagnosed with thalassemia in a local hospital was sent to our laboratory for further genetic diagnosis. Preliminary molecular testing did not identify any mutations in globin genes.MethodsAll blood samples were collected after informed consent had been obtain from the proband’s parents. Both clinical and genetic analyses were conducted for the patient and her family members, including clinical data collection and sequencing of the KLF1 gene. Relevant literature was reviewed, including genetically confirmed cases with well-documented clinical summaries.ResultsBased on the detailed clinical data for this case, we diagnosed the patient with severe HHA. Sanger sequencing confirmed that there was a mutation on each KLF1 allele in the proband, which is missense mutation c.892G > C (p.Ala298Pro) inherited from father and frameshift mutation c.525_526insCGGCGCC (p.Gly176Argfs∗179) from the mother, respectively. A summary of the KLF1 mutation spectrum and a clarification of genotype–phenotype correlation were performed through a combined analysis of the case and literature studies.ConclusionThis study corrected the misdiagnosis and identified the etiology in a Chinese patient with HHA. Identification of the disease-causing gene is important for the treatment and care of the patient and prevention of another affected childbirth in her family. In addition, this study provided insight to better distinguish HHA patients with β-thalassemia mutations from those with KLF1 mutations. |
| نوع الوثيقة: |
article |
| وصف الملف: |
electronic resource |
| اللغة: |
English |
| تدمد: |
1664-8021 |
| Relation: |
https://www.frontiersin.org/articles/10.3389/fgene.2021.691461/full; https://doaj.org/toc/1664-8021 |
| DOI: |
10.3389/fgene.2021.691461 |
| URL الوصول: |
https://doaj.org/article/9221c64d9d104f9f850c904620328ade |
| رقم الانضمام: |
edsdoj.9221c64d9d104f9f850c904620328ade |
| قاعدة البيانات: |
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