Evidence map›Paper›PMID 38312175›Full record

ArticleIndian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion2024

Mutation detection and inhibitor analysis of 43 children with severe hemophilia A in a single center: three novel mutations.

Chunchen Yang, Ziqiang Yu, Wei Zhang, Lijuan Cao, Zhenni Ma, Xia Bai, Changgeng Ruan

Open 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, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.3field-weighted citation impact, top 36% 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

0 citing papers in PubMed, 1 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 2 institutions in 1 country.

Chunchen YangJiangsu Institute of Hematology, National Clinical Research Center for Hematologic Disease, NHC Key Laboratory of Thrombosis and Hemostasis, The First Affiliated Hospital of Soochow University, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Protection, Soochow University, 188 Shizi Street, Suzhou, China.
Ziqiang YuJiangsu Institute of Hematology, National Clinical Research Center for Hematologic Disease, NHC Key Laboratory of Thrombosis and Hemostasis, The First Affiliated Hospital of Soochow University, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Protection, Soochow University, 188 Shizi Street, Suzhou, China.ORCID 0000-0002-3020-419X
Wei ZhangJiangsu Institute of Hematology, National Clinical Research Center for Hematologic Disease, NHC Key Laboratory of Thrombosis and Hemostasis, The First Affiliated Hospital of Soochow University, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Protection, Soochow University, 188 Shizi Street, Suzhou, China.
Lijuan CaoJiangsu Institute of Hematology, National Clinical Research Center for Hematologic Disease, NHC Key Laboratory of Thrombosis and Hemostasis, The First Affiliated Hospital of Soochow University, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Protection, Soochow University, 188 Shizi Street, Suzhou, China.
Zhenni MaJiangsu Institute of Hematology, National Clinical Research Center for Hematologic Disease, NHC Key Laboratory of Thrombosis and Hemostasis, The First Affiliated Hospital of Soochow University, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Protection, Soochow University, 188 Shizi Street, Suzhou, China.
Xia BaiJiangsu Institute of Hematology, National Clinical Research Center for Hematologic Disease, NHC Key Laboratory of Thrombosis and Hemostasis, The First Affiliated Hospital of Soochow University, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Protection, Soochow University, 188 Shizi Street, Suzhou, China.
Changgeng RuanJiangsu Institute of Hematology, National Clinical Research Center for Hematologic Disease, NHC Key Laboratory of Thrombosis and Hemostasis, The First Affiliated Hospital of Soochow University, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Protection, Soochow University, 188 Shizi Street, Suzhou, China.
Soochow University · CNFudan University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

To investigate the risk factors of FVIII inhibitors development in severe hemophilia A (HA) patients who were received on-demand therapy and were infused with plasma cryoprecipitate and multiple FVIII concentrates alternately. We collected clinical information from 43 severe HA children who were treated with plasma cryoprecipitate and multiple FVIII concentrates. The F8 mutation was detected by long-distance PCR for inversion and detected by all exons and their flanking sequencing for other mutations. The inhibitor detection was performed by Nijmegen-modified Bethesda assay. The impact of novel amino substitutions on FVIII protein was predicted by SIFT and PolyPhen-2. The 3D analysis of missense mutations was performed using Swiss-PdbViewer. FVIII inhibitors were detected in nine cases (20.9%). All of the inhibitor positive cases had high risk F8 gene mutations. In most of the positive cases (7/9), inhibitors were developed during the first 10 EDs, which was significantly higher than that in the 10-50 EDs group and 50 EDs group (

Indexed as

F8 geneHemophilia AInhibitorSevere

Identifiers

PMID38312175
PMCPMC10830985
OpenAlexW4385201005

What OpenQuestion holds

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Registered trials

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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.