Molecular basis of rare congenital bleeding disorders

被引：20

作者：

Dorgalaleh, Akbar

Bahraini, Mehran

Shams, Mahmood

Parhizkari, Fereshteh

Dabbagh, Ali

Naderi, Tohid

Fallah, Aysan

Fazeli, Alieh

Ahmadi, Seyed Esmaeil

Samii, Amir

Daneshi, Maryam

Heydari, Farshad

Tabibian, Shadi

Tavasoli, Behnaz

Noroozi-Aghideh, Ali

Tabatabaei, Tahere

Gholami, Mohammad Saeed

机构：

[1] Hamin Tis Research Institute, Tehran

[2] Azadi Pathobiology Laboratory, Tehran

[3] Cellular and Molecular Biology Research Center, Health Research Institute, Babol University of Medical Sciences, I.R., Babol

[4] Iranian Blood Transfusion Organization, Tehran

[5] Department of Anesthesiology, School of Medicine Anesthesiology Research Center, Shahid Modarres Hospital, Shahid Beheshti University of Medical Sciences, Tehran

[6] Department of Laboratory Hematology and Blood Bank, School of Allied Medicine, Shahid Beheshti University of Medical Sciences, Tehran

[7] Department of Hematology and Blood Banking, School of Allied Medicine, Iran University of Medical Sciences, Tehran

[8] Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran

[9] Toos Medical Laboratory, Tehran

[10] Department of Medical Laboratory Sciences, Faculty of Medical Sciences, Islamic Azad University, Arak Branch, Arak

[11] Iranian Comprehensive Hemophilia Care Center, Tehran

[12] Department of Hematology, School of Allied Medicine, AJA University of Medical Sciences, Tehran

[13] Torbat Jam Faculty of Medical Sciences, Torbat jam

[14] Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine and Shiraz Regional Educational Blood Transfusion Center, Fars, Shiraz

来源：

BLOOD REVIEWS | 2023年 / 59卷

关键词：

Rare bleeding disorders; Mutation; Bleeding; Molecular; Factor deficiency; Variant; FACTOR-XI DEFICIENCY; COAGULATION-FACTOR-XIII; COMBINED FACTOR-V; HUMAN PROTHROMBIN GENE; FIBRINOGEN A-ALPHA; B-SUBUNIT; CLINICAL-MANIFESTATIONS; FACTOR-VIII; FUNCTIONAL-CHARACTERIZATION; ACTIVATION PEPTIDE;

D O I：

10.1016/j.blre.2022.101029

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Rare bleeding disorders (RBDs), including factor (F) I, FII, FV, FVII, combined FV and FVIII (CF5F8), FXI, FXIII and vitamin-K dependent coagulation factors (VKCF) deficiencies, are a heterogeneous group of hemorrhagic disorder with a variable bleeding tendency. RBDs are due to mutation in underlying coagulation factors genes, except for CF5F8 and VKCF deficiencies. FVII deficiency is the most common RBD with >330 variants in the F7 gene, while only 63 variants have been identified in the F2 gene. Most detected variants in the affected genes are missense (>50% of all RBDs), while large deletions are the rarest, having been reported in FVII, FX, FXI and FXIII deficiencies. Most were located in the catalytic and activated domains of FXI, FX, FXIII and prothrombin deficiencies. Understanding the proper molecular basis of RBDs not only can help achieve a timely and costeffective diagnosis, but also can help to phenotype properties of the disorders.

引用

页数：17

共 144 条

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