Large Intron Inversions in Romanian Patients with Hemophilia A-First Report

被引：2

作者：

Brinza, Melen ^{[1
]}

Grigore, Andra ^{[1
,2
]}

Dragomir, Mihaela ^{[1
]}

Jardan, Dumitru ^{[3
]}

Jardan, Cerasela ^{[1
,2
]}

Balanescu, Paul ^{[4
]}

Tarniceriu, Claudia Cristina ^{[5
,6
]}

Badulescu, Oana Viola ^{[7
]}

Blag, Cristina ^{[8
,9
]}

Tomuleasa, Ciprian ^{[10
,11
]}

Traila, Adina ^{[12
]}

Serban, Margit ^{[13
,14
]}

Coriu, Daniel ^{[1
,2
]}

Santoro, Rita Carlotta

机构：

[1] Fundeni Clin Inst, Dept Hematol & Bone Marrow Transplant, Bucharest 022328, Romania

[2] Carol Davila Univ Med & Pharm, Dept Hematol, Bucharest 020021, Romania

[3] Medlife, Mol Biol Lab, Bucharest 010093, Romania

[4] Carol Davila Univ Med & Pharm, Internal Med Chair, Bucharest 020021, Romania

[5] Grigore T Popa Univ Med & Pharm, Dept Anat, Iasi 700115, Romania

[6] St Spiridon Cty Clin Emergency Hosp, Dept Hematol, Iasi 700111, Romania

[7] Grigore T Popa Univ Med & Pharm, Dept Pathophysiol, Iasi 700115, Romania

[8] Iuliu Hatieganu Univ Med & Pharm, Pediat Discipline, Cluj Napoca 400177, Romania

[9] Emergency Clin Hosp Children, Pediat Clin, Cluj Napoca 400177, Romania

[10] Iuliu Hatieganu Univ Med & Pharm, Dept Hematol, Cluj Napoca 400012, Romania

[11] Ion Chiricuta Clin Canc Ctr, Dept Hematol, Cluj Napoca 400124, Romania

[12] European Hemophilia Treatment Ctr, Med Educ & Rehabil Children & Young Adults, Cristian Serban Med Ctr Evaluat Therapy, Buzias 305100, Romania

[13] Louis Turcanu Emergency Hosp Children, Dept Onco Hematol, Timisoara 300011, Romania

[14] Victor Babes Univ Med & Pharm, Dept Hematol, Timisoara 300041, Romania

来源：

MEDICINA-LITHUANIA | 2023年 / 59卷 / 10期

关键词：

hemophilia A; intron; 22; inversion; 1; Romania; Eastern Europe; FACTOR-VIII GENE; INHIBITOR DEVELOPMENT; RISK-FACTORS; A PATIENTS; POLISH PATIENTS; PREVALENCE; MUTATIONS; HOTSPOT; PCR;

D O I：

10.3390/medicina59101821

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Background and Objectives: Despite the vast heterogeneity in the genetic defects causing hemophilia A (HA), large intron inversions represent a major cause of disease, accounting for almost half of the cases of severe HA worldwide. We investigated the intron 22 and intron 1 inversion status in a cohort of Romanian unrelated patients with severe HA. Moreover, we evaluated the role of these inversions as relative risk factors in inhibitor occurrence. Materials and Methods: Inverse shifting-a polymerase chain reaction method was used to detect the presence of intron 22 and intron 1 inversions in 156 Romanian patients with HA. Results: Intron inversion 22 was found in 41.7% of the patients, while intron 1 inversion was detected in 3.2% of the patients. Overall, large intron inversions represented the molecular defect in 44.9% of the studied patients. Our findings are in accord with previously published reports from Eastern Europe countries and with other international studies. The risk of inhibitor development was higher in patients with inversion 1 compared to the patients with HA without any inversion detected. Conclusions: The current study demonstrates the major causative role of large intron inversions in severe HA in Romanian patients. Moreover, our study confirms the contribution of intron 1 inversion in inhibitor development.

引用

页数：8

共 32 条

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