Literature DB >> 31736770

Corrigendum: The Spectrum of SPTA1-Associated Hereditary Spherocytosis.

Satheesh Chonat1,2, Mary Risinger3, Haripriya Sakthivel4, Omar Niss4,5, Jennifer A Rothman6, Loan Hsieh7, Stella T Chou8,9, Janet L Kwiatkowski8,9, Eugene Khandros8,9, Matthew F Gorman10, Donald T Wells11, Tamara Maghathe4, Neha Dagaonkar12, Katie G Seu4, Kejian Zhang13, Wenying Zhang5,14, Theodosia A Kalfa4,5.   

Abstract

[This corrects the article DOI: 10.3389/fphys.2019.00815.].
Copyright © 2019 Chonat, Risinger, Sakthivel, Niss, Rothman, Hsieh, Chou, Kwiatkowski, Khandros, Gorman, Wells, Maghathe, Dagaonkar, Seu, Zhang, Zhang and Kalfa.

Entities:  

Keywords:  SPTA1; hemolytic anemia; hereditary spherocytosis; hydrops fetalis; next generation sequencing; α-spectrin; αLEPRA

Year:  2019        PMID: 31736770      PMCID: PMC6843059          DOI: 10.3389/fphys.2019.01331

Source DB:  PubMed          Journal:  Front Physiol        ISSN: 1664-042X            Impact factor:   4.566


In the original article, there was a mistake in Table 1 as published. The SPTA1 mutation of Allele 2 in Patient 1, is stated as “c.4294T>A (p.L1432*).” The correct mutation should read “c.4295del (p.L1432*).” The corrected Table 1 appears below.
Table 1

Genetic mutations and associated phenotype in HS due to SPTA1 mutations.

PhenotypePatientAllele 1Allele 2Age at time of report and commentsEktacytometryα-spectrin in RBC ghosts (% of control)
GROUP I (patients 1–4) Severe, recessive HS (transfusion-dependent, responding to splenectomy)1c.4339-99C > Tc.4295del (p.L1432*)11 year-old, chronic transfusion requirement with partial response to partial splenectomy, resolved after total splenectomy54%
2c.4339-99C > Tc.5102A > T (p.L1701*)7 year-old, chronic transfusion requirement, improved with partial splenectomy64%
3c.4339-99C > Tc.3267A > T (p.Y1089*)11 year-old, not splenectomized due to family preference, continues to require frequent transfusionsNot evaluable in a transfused sample
4Mutation not identifiedGross deletion of SPTA13.5 year-old, RT-PCR demonstrated significantly decreased α-spectrin expression; hemoglobin has normalized after recent splenectomyNot evaluable in a transfused sample
GROUP II (patients 5–8) Severe to moderately severe, recessive HS5c.4339-99C > Tc.1120C > T (p.R374*)4 year-old, chronic transfusion requirement for first three years with improved pattern since.Sample not provided after age 3, when transfusion-independent
6c.4339-99C > Tc.1351-1G > T7 year-old, occasional transfusion requirement, resolved after splenectomy at 5 years of age59%
7c.4339-99C>Tc.2671C > T (p.R891*)4 year-old, has not been transfused so far, Hgb 7.1-8.9 g/dL, ARC 420-572 x 103/μl.61%
8c.4339-99C > Tc.3257delT8 year-old, transfused once as neonate, Hgb 10.6–11.8 g/dL, ARC 354–535 x 103/μl; now Hgb 15–16 g/dL with normal ARC after splenectomy at 6 years of age (splenectomy performed because of chronic abdominal pain due to co-morbidities)Not performed.
GROUP III (patients 9-11) Life-threatening anemia in utero leading to fatal hydrops fetalis if untreated (transfusion-dependent, not responding to splenectomy)9c.4206delG (fs)c.4180delT (fs) in haplotype with c.6631C > T (p.R2211C)Died at birth. Post-mortem diagnosis from parental studies and DNA extracted from liver tissue saved in paraffin blockN/A
10c.6788+11C > Tc.6788+11C > T11 year-old, born prematurely at EGA of 33 weeks with hydrops fetalis, remained transfusion-dependent even after splenectomy; now doing well after matched sibling transplantNot evaluable in a transfused sample (required chronic transfusions up until bone marrow transplant)26% (performed in CD71+ cells)
11c.6154del (p.Ala2052fs)c.6154del (p.Ala2052fs)2 year-old, severe in-utero anemia requiring five in-utero transfusions. Born with severe neonatal hyperbilirubinemia requiring exchange transfusion. Remains transfusion-dependentNot evaluable in a transfused sample

Of note, all the SPTA1 variants reported here except c.4339-99C > T (αLEPRA) and c.2671C > T; p.R891

(Bogardus et al., .

Genetic mutations and associated phenotype in HS due to SPTA1 mutations. Of note, all the SPTA1 variants reported here except c.4339-99C > T (αLEPRA) and c.2671C > T; p.R891 (Bogardus et al., . The authors apologize for this error and state that this does not change the scientific conclusions of the article in any way. The original article has been updated.
  1 in total

1.  Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus.

Authors:  Hannah Bogardus; Vincent P Schulz; Yelena Maksimova; Barbara A Miller; Peining Li; Bernard G Forget; Patrick G Gallagher
Journal:  Haematologica       Date:  2014-06-03       Impact factor: 9.941

  1 in total
  1 in total

1.  Diagnosis and clinical management of red cell membrane disorders.

Authors:  Theodosia A Kalfa
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2021-12-10
  1 in total

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