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Indian Journal of Hematology & Blood Transfusion logoLink to Indian Journal of Hematology & Blood Transfusion
. 2023 Mar 6;39(3):519–521. doi: 10.1007/s12288-023-01629-2

Correction to: Genetic Spectrum in F13A1 Detected by Next-Generation Sequencing Among North Indian Patients with FXIII Deficiency

Ritika Sharma 1, Manu Jamwal 1, Namrata Singh 1, Prashant Sharma 1, Deepak Bansal 2, Amita Trehan 2, Pankaj Malhotra 3, Arihant Jain 3, Jasmina Ahluwalia 1, Reena Das 1, Narender Kumar 1,✉
PMCID: PMC10247909  PMID: 37304469

Correction to: Indian Journal of Hematology and Blood Transfusion https://doi.org/10.1007/s12288-022-01579-1

In the original publication of the article, the columns HGVSc (NM_000129.3) and HGVSp (NP_000120.2) of Table 1 were inadvertently removed from the PDF version of the article.

Table 1.

Details of clinical features, laboratory features, and molecular spectrum of FXIII deficiency

Cases Age/Sex AOP BAT Score Clinical Phenotype UCS FXIII-A (IU/dL) Genotype Depth (X) Variant Type Exon/Int HGVSc (NM_000129.3) HGVSp (NP_000120.2) Variant Classification Domain rs ID [Reference]
Case 1 50/M 10 Yrs 12 SB + JS + TEB + HT  + ve 2.1 Homo 193 Deletion 4 c.521delG p.Ser174Ilefs*34 Pathogenic β sandwich domain rs774669729 [8, 11]
Case 2* 2/F 1st week of birth 5 SB + UCB  + ve 3.8 Homo 48 Deletion 6 c.742delA p.Met248Trpfs*2 Pathogenic Core domain Novel
Case 3* 2/M 1st week of birth 4 UCB + PB  + ve ND Homo 53 Nonsense 8 c.1112G > A p.Trp371* Pathogenic Core domain Novel
Case 4 28/M 1.5 months 6 SB + UCB + IMH N 6.6 Homo 53 Nonsense 9 c.1127G > A p.Trp376* Pathogenic Core domain [11]
Case 5* 35/M 20 Yrs 5 SB + JS  + ve ND Homo 56 Nonsense 9 c.1127G > A p.Trp376* Pathogenic Core domain [11]
Case 6 7/F 6th day of birth 6 SB + OB + UCB  + ve ND Homo 78 Nonsense 9 c.1127G > A p.Trp376* Pathogenic Core domain [11]
Case 7 7/M 9th day of birth 9 SB + HT + UCB  + ve 0.7 Homo 56 Missense 10 c.1226G > A p.Arg409Gln Likely Pathogenic Core domain rs532879106 [5, 10, 11, 19]
Case 8 4/F 11th day of birth 14 SB + UCB  + ve 0.6 Homo 44 Deletion 11 c.1405_1408delCAAA p.Gln469Leufs*6 Pathogenic Core domain [6]
Case 9 51/M 1st week of birth 11 GI-MA + GU + UCB + ICB  + ve 6.1 Homo 125 Splice site 14 c.2045G > A p.Arg682His Likely Pathogenic β barrel-2 domain rs121913064 [5, 7–11]
Case 10 21/F 2 Yrs 4 PB for 9 days  + ve ND C. Het 27 Splice site 14 c.2045G > A p.Arg682His Pathogenic β barrel-2 domain rs121913064 [5, 7–11]
27 Splice site Int 13 c.1909-1G > C Pathogenic Pathogenic Novel
Case 11# 8/M 2nd day of birth 16 IMH + SB + HU + IA/R + UCB  + ve 0.9 C. Het 33 Missense 15 c.2134A > C p.Ser712Arg Likely Pathogenic β barrel-2 domain Novel
98 Missense 5 c.631G > C p.Gly211Arg Likely Pathogenic Core domain rs1205172031 [7]
Case 12 2 months/M 2 months 5 EP Inc 37.3 Het 32 Missense 8 c.998C > T p.Ala333Val VUS Core domain rs759294043
Case 13 67/F 42 Yrs 2 SB + JB + MN N 49.5 No pathogenic variant was found
Case 14 24/F 13 Yrs 3 GI-MA + MN N 22.5
Case 15 70/M 67 Yrs 2 SB + GI-MA  + ve 40.1
Case 16 32/F 30 Yrs 1 RA + SB  + ve ND

AOP Age of Presentation, BAT ISTH Bleeding Assessment Tool, EP epistaxis, F female; FXIII-A Antigen Assay Normal range (50–150 IU/dL), GI-MA Gastrointestinal malaena, GU Genitourinary bleed, HU Hematuria, HT Hematoma, IA/R Intraabdominal/Retroperitoneal, ICB Intracranial Bleed, Inc Inconclusive, IMH Intramuscular hematoma, Int Intron, JS Joint Swelling, M Male, MN Menorrhagia, N Normal, ND Not Done, OB Oral Bleed, PB Prolonged wound bleeding, RA Recurrent Abortions, SB Skin Bleed, TEB Tooth extraction bleed, UCB Umbilical cord bleed, VUS Variant of Uncertain Significance, + ve Positive, *- Positive family history, #- consanguineous family. In all solved cases, pathogenic/likely pathogenic variants were identified in F13A1 gene.

The correct Table 1 is given below:

The original article has been corrected.

Footnotes

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Contributor Information

Ritika Sharma, Email: ritikasanwal04@gmail.com.

Manu Jamwal, Email: manujamwal25@gmail.com.

Namrata Singh, Email: namrata.singh2212@gmail.com.

Prashant Sharma, Email: prashant.sh@gmail.com.

Deepak Bansal, Email: deepakbansaldr@gmail.com.

Amita Trehan, Email: trehanamita@hotmail.com.

Pankaj Malhotra, Email: malhotrapankaj@yahoo.com.

Arihant Jain, Email: drarihantjain86@gmail.com.

Jasmina Ahluwalia, Email: jasminapgi@gmail.com.

Reena Das, Email: reenadaspgi@hotmail.com, Email: das.reena@pgimer.edu.in.

Narender Kumar, Email: narenderkalson@gmail.com.


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