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Article Open Access

Novel compound heterozygous mutations in the SPTA1 gene, causing hereditary spherocytosis in a neonate with Coombs‑negative hemolytic jaundice

  • Authors:
    • Xiong Wang
    • Aiguo Liu
    • Yanjun Lu
    • Qun Hu
  • View Affiliations / Copyright

    Affiliations: Department of Laboratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, P.R. China, Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, P.R. China
    Copyright: © Wang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 2801-2807
    |
    Published online on: February 8, 2019
       https://doi.org/10.3892/mmr.2019.9947
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Abstract

Hereditary spherocytosis (HS) is a common heterogeneous type of inherited hemolytic anemia characterized by jaundice and splenomegaly. Diagnosis of HS in neonates is considered unreliable, and is generally based on positive family history, spherocytes in peripheral smears, increased osmotic fragility, and jaundice. In the present study, routine laboratory tests, next‑generation sequencing, and Sanger sequencing were applied to diagnose a neonatal patient with Coombs‑negative hemolytic jaundice. The neonate had no family history of HS; however, spherocytes were observed in peripheral smears, and the patient exhibited Coombs‑negative and severe hemolytic jaundice, normal mean corpuscular hemoglobin concentration (MCHC) and mean corpuscular volume (MCV), normal glucose‑6‑phosphate dehydrogenase activity, negative thalassemia genetic mutation screening results, and negative autoimmune antibody tests. Novel compound heterozygous mutations in the spectrin‑α, erythrocytic 1 (SPTA1) gene (c.3897‑1G>C and c.5029G>A) were identified. The SPTA1 c.3897‑1G>C mutation in intron 27‑1, which disrupted the consensus splice site, was inherited from his asymptomatic mother, and the SPTA1 c.5029G>A (p.Gly1677Arg) mutation in trans with the SPTA1 c.3897‑1G>C mutation was inherited from his asymptomatic father. Sanger sequencing of mRNA reverse transcribed into cDNA identified a deletion of the first 10 nucleotides of exon 28, confirming the splicing mutation. In conclusion, the present study reports a rare case of autosomal‑recessive HS with a severe clinical phenotype, but normal MCHC and MCV.
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Copy and paste a formatted citation
Spandidos Publications style
Wang X, Liu A, Lu Y and Hu Q: Novel compound heterozygous mutations in the SPTA1 gene, causing hereditary spherocytosis in a neonate with Coombs‑negative hemolytic jaundice. Mol Med Rep 19: 2801-2807, 2019.
APA
Wang, X., Liu, A., Lu, Y., & Hu, Q. (2019). Novel compound heterozygous mutations in the SPTA1 gene, causing hereditary spherocytosis in a neonate with Coombs‑negative hemolytic jaundice. Molecular Medicine Reports, 19, 2801-2807. https://doi.org/10.3892/mmr.2019.9947
MLA
Wang, X., Liu, A., Lu, Y., Hu, Q."Novel compound heterozygous mutations in the SPTA1 gene, causing hereditary spherocytosis in a neonate with Coombs‑negative hemolytic jaundice". Molecular Medicine Reports 19.4 (2019): 2801-2807.
Chicago
Wang, X., Liu, A., Lu, Y., Hu, Q."Novel compound heterozygous mutations in the SPTA1 gene, causing hereditary spherocytosis in a neonate with Coombs‑negative hemolytic jaundice". Molecular Medicine Reports 19, no. 4 (2019): 2801-2807. https://doi.org/10.3892/mmr.2019.9947
Copy and paste a formatted citation
x
Spandidos Publications style
Wang X, Liu A, Lu Y and Hu Q: Novel compound heterozygous mutations in the SPTA1 gene, causing hereditary spherocytosis in a neonate with Coombs‑negative hemolytic jaundice. Mol Med Rep 19: 2801-2807, 2019.
APA
Wang, X., Liu, A., Lu, Y., & Hu, Q. (2019). Novel compound heterozygous mutations in the SPTA1 gene, causing hereditary spherocytosis in a neonate with Coombs‑negative hemolytic jaundice. Molecular Medicine Reports, 19, 2801-2807. https://doi.org/10.3892/mmr.2019.9947
MLA
Wang, X., Liu, A., Lu, Y., Hu, Q."Novel compound heterozygous mutations in the SPTA1 gene, causing hereditary spherocytosis in a neonate with Coombs‑negative hemolytic jaundice". Molecular Medicine Reports 19.4 (2019): 2801-2807.
Chicago
Wang, X., Liu, A., Lu, Y., Hu, Q."Novel compound heterozygous mutations in the SPTA1 gene, causing hereditary spherocytosis in a neonate with Coombs‑negative hemolytic jaundice". Molecular Medicine Reports 19, no. 4 (2019): 2801-2807. https://doi.org/10.3892/mmr.2019.9947
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