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Arch Iran Med. 2021;24: 887-896.
doi: 10.34172/aim.2021.133
  Abstract View: 369
  PDF Download: 234

Original Article

The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A

Sarah Azadmehr 1 ORCID logo, Faezeh Rahiminejad 1, Fatemeh Zafarghandi Motlagh 1, Mojdeh Jamali 1, Pardis Ghazizadeh Tehrani 1, Tina Shirzadeh 1, Hamideh Bagherian 1, Morteza Karimipoor 2, Elham Davoudi-Dehaghani 2* ORCID logo, Sirous Zeinali 1,2* ORCID logo

1 Medical Genetics Lab of Dr. Zeinali, Kawsar Human Genetics Research Center, Tehran, Iran
2 Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran
*Corresponding Authors: *Corresponding Author: Elham Davoudi-Dehaghani, PhD; Department of Molecular Medicine, Biotech-c nology Research Center, Pasteur Institute of Iran, Pasteur St., Tehran, Iran. Tel:+98-917-1103682; Fax:+98-21-64112535; Email: , Email: davoodie419419@yahoo.com; *Corresponding Author: Sirous Zeinali, PhD; Medical Genetics Lab of Dr. Zeinali, Kawsar Human Genetics Research Center. No. 41 Majlesi St., Valiasr St., Tehran, Iran. Tel:+98-912-1372040; Fax:+98-21-88939140; Email: , Email: zeinali@gmail.com

Abstract

Background: Hemophilia A (HA) is an X-linked recessive bleeding disorder with a high rate of genetic heterogeneity. The present study was conducted on a large cohort of Iranian HA patients and data obtained from databases.

Methods: A total of 622 Iranian HA patients from 329 unrelated families who had been referred to a medical genetics laboratory in Tehran from 2005 to 2019, were enrolled in this retrospective, observational study. Genetic screening of pathogenic variants of the F8 gene was performed using inverse shifting PCR, direct sequencing, and multiplex ligation-dependent amplification (MLPA). Point mutation frequencies in different exons were analyzed for our samples as well as 6031 HA patients whose data were recorded in a database.

Results: A total of 144 different pathogenic or likely pathogenic variants including 29 novel variants were identified. A strategy to decrease costs of genetic testing of HA was suggested based on this finding.

Conclusion: This study provides comprehensive information on F8 pathogenic/likely pathogenic variants in Iranian HA patients which improves the spectrum of causative mutations and can be helpful to clinicians and medical geneticists in counseling and molecular diagnosis of HA.


Keywords: Genetic test, Hemophilia A, Point mutation, Prenatal diagnosis

Cite this article as: Azadmehr S, Rahiminejad F, Zafarghandi Motlagh F, Jamali M, Ghazizadeh Tehrani P, Shirzadeh T, et al. The spectrum of pathogenic variants in iranian families with hemophilia A. Arch Iran Med. 2021;24(12):887-896. doi: 10.34172/ aim.2021.133
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Submitted: 18 Oct 2020
Revision: 27 Dec 2020
Accepted: 13 Jan 2021
ePublished: 01 Dec 2021
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