PMID- 30816434
OWN - NLM
STAT- MEDLINE
DCOM- 20190801
LR  - 20200309
IS  - 1791-3004 (Electronic)
IS  - 1791-2997 (Print)
IS  - 1791-2997 (Linking)
VI  - 19
IP  - 4
DP  - 2019 Apr
TI  - Novel compound heterozygous mutations in the SPTA1 gene, causing hereditary 
      spherocytosis in a neonate with Coombs‑negative hemolytic jaundice.
PG  - 2801-2807
LID - 10.3892/mmr.2019.9947 [doi]
AB  - 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‑alpha, 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.
FAU - Wang, Xiong
AU  - Wang X
AD  - Department of Laboratory Medicine, Tongji Hospital, Tongji Medical College, 
      Huazhong University of Science and Technology, Wuhan, Hubei 430030, P.R. China.
FAU - Liu, Aiguo
AU  - Liu A
AD  - Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong 
      University of Science and Technology, Wuhan, Hubei 430030, P.R. China.
FAU - Lu, Yanjun
AU  - Lu Y
AD  - Department of Laboratory Medicine, Tongji Hospital, Tongji Medical College, 
      Huazhong University of Science and Technology, Wuhan, Hubei 430030, P.R. China.
FAU - Hu, Qun
AU  - Hu Q
AD  - Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong 
      University of Science and Technology, Wuhan, Hubei 430030, P.R. China.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20190208
PL  - Greece
TA  - Mol Med Rep
JT  - Molecular medicine reports
JID - 101475259
RN  - 0 (Carrier Proteins)
RN  - 0 (Microfilament Proteins)
RN  - 0 (fodrin)
MH  - Adult
MH  - Alleles
MH  - Carrier Proteins/chemistry/*genetics
MH  - Computational Biology/methods
MH  - DNA Mutational Analysis
MH  - Female
MH  - *Heterozygote
MH  - High-Throughput Nucleotide Sequencing
MH  - Humans
MH  - Infant, Newborn
MH  - Jaundice/*diagnosis
MH  - Male
MH  - Microfilament Proteins/chemistry/*genetics
MH  - Models, Molecular
MH  - *Mutation
MH  - Pedigree
MH  - Phenotype
MH  - Spherocytosis, Hereditary/*diagnosis/*genetics
MH  - Structure-Activity Relationship
PMC - PMC6423610
EDAT- 2019/03/01 06:00
MHDA- 2019/08/02 06:00
PMCR- 2019/02/08
CRDT- 2019/03/01 06:00
PHST- 2018/06/29 00:00 [received]
PHST- 2019/02/06 00:00 [accepted]
PHST- 2019/03/01 06:00 [pubmed]
PHST- 2019/08/02 06:00 [medline]
PHST- 2019/03/01 06:00 [entrez]
PHST- 2019/02/08 00:00 [pmc-release]
AID - mmr-19-04-2801 [pii]
AID - 10.3892/mmr.2019.9947 [doi]
PST - ppublish
SO  - Mol Med Rep. 2019 Apr;19(4):2801-2807. doi: 10.3892/mmr.2019.9947. Epub 2019 Feb 
      8.