Evidence map›Paper›PMID 37006978›Full record

ArticleIndian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion2023

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

Ritika Sharma, Manu Jamwal, Namrata Singh, Prashant Sharma, Deepak Bansal, Amita Trehan, Pankaj Malhotra, Arihant Jain, Jasmina Ahluwalia, Reena Das and 1 more

Erratum issuedOpen access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.3field-weighted citation impact, top 40% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

11 authors at 1 institution in 1 country.

Ritika SharmaDepartment of Hematology, Postgraduate Institute of Medical Education and Research, 160012 Chandigarh, India.
Manu JamwalDepartment of Hematology, Postgraduate Institute of Medical Education and Research, 160012 Chandigarh, India.
Namrata SinghDepartment of Hematology, Postgraduate Institute of Medical Education and Research, 160012 Chandigarh, India.
Prashant SharmaDepartment of Hematology, Postgraduate Institute of Medical Education and Research, 160012 Chandigarh, India.
Deepak BansalDepartment of Pediatrics (Hematology-Oncology Unit), Postgraduate Institute of Medical Education and Research, 160012 Chandigarh, India.
Amita TrehanDepartment of Pediatrics (Hematology-Oncology Unit), Postgraduate Institute of Medical Education and Research, 160012 Chandigarh, India.
Pankaj MalhotraDepartment of Clinical Hematology and Medical Oncology, Postgraduate Institute of Medical Education and Research, 160012 Chandigarh, India.
Arihant JainDepartment of Clinical Hematology and Medical Oncology, Postgraduate Institute of Medical Education and Research, 160012 Chandigarh, India.
Jasmina AhluwaliaDepartment of Hematology, Postgraduate Institute of Medical Education and Research, 160012 Chandigarh, India.
Reena DasDepartment of Hematology, Postgraduate Institute of Medical Education and Research, 160012 Chandigarh, India.
Narender KumarDepartment of Hematology, Postgraduate Institute of Medical Education and Research, 160012 Chandigarh, India.ORCID 0000-0002-6164-4171
Post Graduate Institute of Medical Education and Research · IN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: The study aimed to explore the molecular defects underlying FXIII deficiency. Materials and Methods: Sixteen unrelated cases were enrolled based on the indication of the urea clot solubility test and Factor XIII-A antigen levels. Cases were further subjected to targeted next-generation sequencing (custom gene panel: Results: Mean age of referral to our center was 27.2 years (8 week-67 years). Consanguinity was found in only one of the 16 cases and 9 cases presented in infancy. The most common symptoms were skin bleeds (69%) and umbilical cord bleed (50%). The clot solubility test was positive in 12, inconclusive in 1, and normal in 3. Mean FXIII-A levels were 15.7 IU/dL (range 0.6 to 49.5 IU/dL). Pathogenic/likely pathogenic variants in Conclusion: Inherited FXIII deficiency with bleeding is associated with genetic defects in predominantly the Supplementary Information: The online version contains supplementary material available at 10.1007/s12288-022-01579-1.

Indexed as

Factor XIII deficiencyInherited coagulopathiesNext-generation sequencingRare bleeding disorderUmbilical cord bleeding

Identifiers

PMID37006978
PMCPMC10064406
OpenAlexW4307758249

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.