Evidence map›Paper›PMID 36158401›Full record

ArticleCureus2022

Frequency of Intron 22 Inversion in Severe Hemophilia A Patients.

Javeria Ashfaq, Rehana Ahmed, Faryal Tariq, Qurat Ul Abedin, Madiha Abid, Munira Borhany

Abstract read
In one paragraph

Article in Cureus, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Javeria AshfaqClinical Hematology, National Institute of Blood Diseases and Bone Marrow Transplantation, Karachi, PAK.
Rehana AhmedHematology, National Institute of Blood Diseases and Bone Marrow Transplantation, Karachi, PAK.
Faryal TariqClinical Hematology, National Institute of Blood Diseases and Bone Marrow Transplantation, Karachi, PAK.
Qurat Ul AbedinHematology, National Institute of Blood Diseases and Bone Marrow Transplantation, Karachi, PAK.
Madiha AbidHematology, National Institute of Blood Diseases and Bone Marrow Transplantation, Karachi, PAK.
Munira BorhanyHematology, National Institute of Blood Diseases and Bone Marrow Transplantation, Karachi, PAK.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveThe aim of our study was to find the frequency of Intron 22 inversion (Inv22) in severe hemophilia A (HA) patients and to evaluate the association between Inv22 and FVIII inhibitor formation.

methodData analysis was carried out on IBM SPSS Statistics Version 23.00 (IBM Corp, Armonk, NY). Descriptive statistics were applied to measure the frequencies, percentages, and mean ± SD of the clinical and general history of HA patients, including age, family history, inhibitor status, intron22 inversion, and FVIII levels. Chi-square was applied to evaluate the association between Inv22 and F8 inhibitor formation.

resultsA total of 62 HA patients were enrolled in the study with mean±SD age of (14.39±13.2) years. A family history of HA was observed in 36 (58.1%) patients. Out of 62 patients, 28(45.2%) were reported as Inv22 positive while inhibitor status was observed as positive in three (4.83%) patients. However, an insignificant association was observed between the inhibitor and Inv22 positive patients with a p-value=0.443.

conclusionIn our study, Inv22 was found to be the major cause of severe HA in our patients, i.e., 45.1%. However, no significant relation was computed between Inv22 and inhibitor formation.

Indexed as

factor viiihaemophilia ainhibitorintron 22 inversionseverity

Identifiers

PMID36158401
PMCPMC9490293

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