Corrigendum: The Spectrum of SPTA1-Associated Hereditary Spherocytosis

Chonat, Satheesh; Risinger, Mary; Sakthivel, Haripriya; Niss, Omar; Rothman, Jennifer A.; Hsieh, Loan; Chou, Stella T.; Kwiatkowski, Janet L.; Khandros, Eugene; Gorman, Matthew F.; Wells, Donald T.; Maghathe, Tamara; Dagaonkar, Neha; Seu, Katie Giger; Zhang, Kejian; Zhang, Wenying; Kalfa, Theodosia A.

doi:10.3389/fphys.2019.01331

Cited by 6 publications

(4 citation statements)

References 1 publication

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“…Other overexpressed genes, such as HBA1 , HBB , HBA2 , RHAG , SLC4A1 , and CA1 , code for proteins involved in the uptake and release of oxygen and carbon dioxide in erythrocytes. Moreover, genes connected to hereditary spherocytosis, SLC4A1 , SPTA1 , SPTB , and EPB42 , which is the most common red blood cell membrane disorder [ 48 ], were overexpressed in the samples of CAD patients. These genes, which code for erythrocyte membrane proteins, were essentially not expressed in controls, whereas their expression in CAD B cells was substantial.…”

Section: Discussionmentioning

confidence: 99%

Gene expression analysis revealed downregulation of complement receptor 1 in clonal B cells in cold agglutinin disease

Małecka,

Østlie,

Trøen

et al. 2023

Clinical and Experimental Immunology

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Cold Agglutinin Disease (CAD) is a rare B-cell lymphoproliferative disorder of the bone marrow, manifested by autoimmune hemolytic anemia caused by binding of monoclonal IgM autoantibodies to the I antigen. Underlying genetic changes have previously been reported, but their impact on gene expression profile has been unknown. Here, we define differentially expressed genes in CAD B cells. To unravel downstream alteration in cellular pathways, gene expression by RNA sequencing was undertaken. Clonal B-cell samples from twelve CAD patients and IgM-expressing memory B cells from four healthy individuals were analyzed. Differential expression analysis and filtering resulted in 93 genes with significant differential expression. Top upregulated genes included SLC4A1, SPTA1, YBX3, TESC, HBD, AHSP, TRAF1, HBA2, RHAG, CA1, SPTB, IL10, UBASH3B, ALAS2, HBA1, CRYM, RGCC, KANK2 and IGHV4-34. They were upregulated at least 8-fold, while complement receptor 1 (CR1/CD35) was downregulated 11-fold in clonal CAD B cells compared to control B cells. Flow cytometry analyses further confirmed reduced CR1 (CD35) protein expression by clonal CAD IgM+ B cells compared to IgM+ memory B cells in controls. CR1 (CD35) is an important negative regulator of B-cell activation and differentiation. Therefore, reduced CR1 (CD35) expression may increase activation, proliferation, and antibody production in CAD-associated clonal B cells.

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Section: Discussionmentioning

confidence: 99%

Gene expression analysis revealed downregulation of complement receptor 1 in clonal B cells in cold agglutinin disease

Małecka,

Østlie,

Trøen

et al. 2023

Clinical and Experimental Immunology

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“…6,10 Severe AR HS typ i cally pres ents as a trans fu sion-depen dent dis ease from early infancy and is most fre quently due to a null SPTA1 var i ant in trans to an SPTA1 allele with the α LEPRA poly mor phism, allowing for a small resid ual expres sion of nor mal α-spectrin, as in the case above. 2,3 Rarely, a sim i lar phe no type of AR HS may be due to a null ANK1 muta tion in trans to a pro moter or mis sense var i ant of ANK1 decreas ing but not oblit er at ing the incor po ra tion of ankyrin into the mem brane skel e ton. 11 With the advent of intra uter ine transfu sions for severe pre na tal ane mia, we now see the most severe HS cases, which used to be embry o nal-lethal dur ing the third trimes ter of preg nancy: these are cases due to biallelic SPTA1 null var i ants or homo zy gous SLC4A1 var i ants, 3,12 which would remain trans fu sion-depen dent even after sple nec tomy.…”

Section: Hereditary Spherocytosis (Hs)mentioning

confidence: 99%

“…2,3 Rarely, a sim i lar phe no type of AR HS may be due to a null ANK1 muta tion in trans to a pro moter or mis sense var i ant of ANK1 decreas ing but not oblit er at ing the incor po ra tion of ankyrin into the mem brane skel e ton. 11 With the advent of intra uter ine transfu sions for severe pre na tal ane mia, we now see the most severe HS cases, which used to be embry o nal-lethal dur ing the third trimes ter of preg nancy: these are cases due to biallelic SPTA1 null var i ants or homo zy gous SLC4A1 var i ants, 3,12 which would remain trans fu sion-depen dent even after sple nec tomy.…”

Section: Hereditary Spherocytosis (Hs)mentioning

confidence: 99%

“…Notable excep tions of sple nec tomy effi cacy are the rare cases due to a com plete defi ciency of α-spectrin or band 3, who require either a life long pro gram of trans fu sions and iron che lation or stem cell transplantion. 3,12 Not all spherocytes are due to HS. The his tory, blood smear, and ektacytometry in non-trans fu sion-depen dent con gen i tal dyserythropoietic ane mia type II (CDA-II) may closely resemble HS (Figure 2).…”

Section: Clinical Man Age Mentmentioning

confidence: 99%

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Diagnosis and clinical management of red cell membrane disorders

Kalfa

2021

Hematology

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Heterogeneous red blood cell (RBC) membrane disorders and hydration defects often present with the common clinical findings of hemolytic anemia, but they may require substantially different management, based on their pathophysiology. An accurate and timely diagnosis is essential to avoid inappropriate interventions and prevent complications. Advances in genetic testing availability within the last decade, combined with extensive foundational knowledge on RBC membrane structure and function, now facilitate the correct diagnosis in patients with a variety of hereditary hemolytic anemias (HHAs). Studies in patient cohorts with well-defined genetic diagnoses have revealed complications such as iron overload in hereditary xerocytosis, which is amenable to monitoring, prevention, and treatment, and demonstrated that splenectomy is not always an effective or safe treatment for any patient with HHA. However, a multitude of variants of unknown clinical significance have been discovered by genetic evaluation, requiring interpretation by thorough phenotypic assessment in clinical and/or research laboratories. Here we discuss genotype-phenotype correlations and corresponding clinical management in patients with RBC membranopathies and propose an algorithm for the laboratory workup of patients presenting with symptoms and signs of hemolytic anemia, with a clinical case that exemplifies such a workup.

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