Hemolytic erythrocytosis: an amalgamated phenotype from coinherited Chuvash polycythemia and G6PD Kerala-Kalyan with acquired transient stomatocytosis

Jamwal, Manu; Mallik, Nabhajit; Aravindan, Arun Vijayalakshmi; Jain, Arihant; Sharma, Prashant; Malhotra, Pankaj; Das, Reena

doi:10.1007/s00277-020-04295-w

Cited by 2 publications

(5 citation statements)

References 8 publications

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“…Demographic, clinical and hemogram data are summarized in Table 1 . Group A included 33 index cases with erythrocytosis and their five family members (two sets of two brothers each, two father-son duos and the parents of an already diagnosed case of Chuvash polycythemia i.e., homozygous VHL :c.598C > T;p.R200W mutation) [ 15 ]. PCR-RFLP revealed homozygosity for VHL :c.598C > T;p.R200W in 3 (8%) persons and heterozygosity in two individuals (parents of the known case of Chuvash polycythemia) in Group A (Supplementary Figs.…”

Section: Resultsmentioning

confidence: 99%

“…There are only two prior Indian reports in indexed literature that describe patients with DNA-testing confirmed Chuvash polycythemia [ 10 , 15 ]. The first study found this VHL substitution as the commonest homozygous mutation detected in unexplained erythrocytosis (11/18 cases) on Sanger sequencing [ 10 ].…”

Section: Discussionmentioning

confidence: 99%

“…Their higher frequency was likely due to more stringent patient selection criteria since they recruited patients before the WHO reduced the Hb cut-off in 2016 [ 14 ]. The other publication was a detailed case report of one of these 11 patients who had an amalgamated hemolytic + polycythemic phenotype due to the co-inheritance of Chuvash polycythemia with G6PD-deficiency [ 15 ]. Our study adds three more cases of Chuvash polycythemia to the 12 previously reported from India [ 10 , 15 , 21 ].…”

Section: Discussionmentioning

confidence: 99%

“…The other publication was a detailed case report of one of these 11 patients who had an amalgamated hemolytic + polycythemic phenotype due to the co-inheritance of Chuvash polycythemia with G6PD-deficiency [ 15 ]. Our study adds three more cases of Chuvash polycythemia to the 12 previously reported from India [ 10 , 15 , 21 ]. Out of these 15 cases, 14 were males.…”

Section: Discussionmentioning

confidence: 99%

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A Screening Approach for Inherited Erythrocytosis due to the VHL:c.598C > T Mutation (Chuvash Polycythemia)

Duggal

Singh

Sachdev

et al. 2023

Indian J Hematol Blood Transfus

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Genetic work-up of unexplained erythrocytosis that is suspected to be inherited in nature currently requires either laborious exon-by-exon gene panel testing by Sanger sequencing or expensive next-generation sequencing. A high prevalence of Chuvash polycythemia (61%) has been previously reported among north Indian erythrocytosis patients. We assessed PCR-RFLP for VHL c.598C > T mutation as a first-line test in 99 persons with JAK2 V617F-negative, unexplained erythrocytosis. We enrolled two groups: Group A (n = 38) had erythrocytosis patients (n = 33) or their first-degree relatives (n = 5), and, Group B with 61 healthy blood donation volunteers who were deferred after the discovery of unexplained high hemoglobin levels. Detailed history and clinical examination, hemogram, erythropoietin levels and PCR–RFLP for the VHL :c.598C > T;p.R200W mutation were done. In Group A, three (8%) persons aged 9, 13 and 30-years were homozygous for VHL :c.598C > T. Two were heterozygous (parents of a known case of Chuvash polycythemia). None of the Group B subjects had the Chuvash mutation. Erythropoietin levels in group A were low in 5/26 cases (19%) and normal in 18/26 (69%). In Group B, seven (11%) donors had normal values while the remaining 54 (89%) had high erythropoietin levels. Despite a lower frequency (8%) compared to literature, our results suggest that the relatively simpler PCR-RFLP for VHL :c.598C > T mutation may be considered for the initial genetic screening of unexplained, suspected congenital erythrocytosis in regions where Chuvash polycythemia comprises a large proportion of inherited erythrocytosis, after polycythemia vera and common acquired secondary causes are excluded. Supplementary Information The online version contains supplementary material available at 10.1007/s12288-023-01668-9.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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A Screening Approach for Inherited Erythrocytosis due to the VHL:c.598C > T Mutation (Chuvash Polycythemia)

Duggal

Singh

Sachdev

et al. 2023

Indian J Hematol Blood Transfus

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“…IL6 [1383], CSF3 [1384], SOCS3 [1385], CCL3 [1386], CCL5 [1387], VCAM1 [1388], CCL2 [1387], CXCL12 [1389], KLF10 [1390], FRZB (frizzled related protein) [1391], DUSP1 [1392], IL1B [1393], CCL11 [1394], LMNA (lamin A/C) [1395], WIF1 [1396], IL1RN [1397], IFNG (interferon gamma) [1398], CX3CL1 [1399], BMP2 [1400], CDKN1A [1401], BMP4 [1402], ICAM1 [1403], CD34 [1404], IL33 [1405], FASLG (Fas ligand) [1406], KDM6B [1407], TNF (tumor necrosis factor) [1408], GDF15 [1409], IL2 [1410], INPP4B [1411], FABP4 [1412], CYP2C19 [1413], CXCR4 [1414], DKK2 [1415], PLCB4 [1416], ANXA1 [1417], DUSP6 [1418], CORIN (corin, serine peptidase) [1419], F8 [1420], DDIT4 [1421], IL1R2 [1422], S100A4 [1417], CTSL (cathepsin L) [1423], PTX3 [1424], EFNB1 [1425], MCF2L [1426], FZD4 [1427], CCL26 [1428], PHGDH (phosphoglycerate dehydrogenase) [1429] and FDPS (farnesyl diphosphate synthase) [1430] have been identified as predictive biomarkers of osteoporosis. IL6 [1431], SOCS2 [1432], SOCS3 [1432], DUSP1 [1433], MLF1 [1434], EPHA2 [1435], CD34 [1436], IL33 [1437], GDF15 [1438], IL2 [1439], CD177 [1440], G6PD [1441], NFE2 [1442], PTX3 [1443], IDH1 [1444], MPO (myeloperoxidase) [1445] and KLK1 [1446] might be associated with the pathogenesis of polycythemia. The abnormal expression of IL33 [1447] and TNF (tumor necrosis factor) [1448] contributes to the pneumothorax.…”

Section: Discussionmentioning

confidence: 99%

Identification of key genes and biological pathways in chronic obstructive pulmonary disease using bioinformatics and next generation sequencing data analysis

Vastrad,

Vastrad

2024

Preprint

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Identification of accurate biomarkers is still particularly urgent for improving the poor survival of chronic obstructive pulmonary disease (COPD) patients. In this investigation, we aimed to identity the potential biomarkers in COPD via bioinformatics and next generation sequencing (NGS) data analysis. In this investigation, the differentially expressed genes (DEGs) in COPD were identified using NGS dataset (GSE239897) from Gene Expression Omnibus (GEO) database. Subsequently, gene ontology (GO) and pathway enrichment analysis was conducted to evaluate the underlying molecular mechanisms involved in progression of COPD. Protein-protein interaction (PPI), modules, miRNA-hub gene regulatory network and TF-hub gene regulatory network analysis were performed to determine the hub genes, miRNAs and TFs. The receiver operating characteristic (ROC) analysis was performed to determine the diagnostic value of hub genes. A total of 956 overlapping DEGs (478 up regulated and 478 down regulated genes) were identified in the NGS dataset. DEGs were mainly associated with GO functional terms and pathways in cellular response to stimulus. response to stimulus, immune system and neutrophil degranulation. There were 10 hub genes (MYC, LMNA, VCAM1, MAPK6, DDX3X, SHMT2, PHGDH, S100A9, FKBP5 and RPS6KA2) identified by PPI, modules, miRNA-hub gene regulatory network and TF-hub gene regulatory network analysis. In conclusion, the DEGs, relative GO terms, pathways and hub genes identified in the present investigation might aid in understanding of the molecular mechanisms underlying COPD progression and provide potential molecular targets and biomarkers for COPD.

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Hemolytic erythrocytosis: an amalgamated phenotype from coinherited Chuvash polycythemia and G6PD Kerala-Kalyan with acquired transient stomatocytosis

Cited by 2 publications

References 8 publications

A Screening Approach for Inherited Erythrocytosis due to the VHL:c.598C > T Mutation (Chuvash Polycythemia)

A Screening Approach for Inherited Erythrocytosis due to the VHL:c.598C > T Mutation (Chuvash Polycythemia)

Identification of key genes and biological pathways in chronic obstructive pulmonary disease using bioinformatics and next generation sequencing data analysis

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