Pyruvate Kinase Deficiency: An Underdiagnosed Cause of Severe Hemolytic Anemia in Iranian Population: Insights From Whole Exome Sequencing of Four Families and Screening of a Population‐Specific Database
This study provides new insights into the genetic and ethnic diversity of PKD and its prevalence in Iran. It also highlights critical risk factors for PKD in the Iranian population, including clinical and molecular diagnostic challenges, the prevalence of consanguineous marriages, and low public awareness regarding the risks of genetic disorders.
Authors
- Jafar Mehrabi Sisakht (ORCID: https://orcid.org/0000-0001-5557-7614)
- Azita Azarkeivan (ORCID: https://orcid.org/0000-0001-5026-0175)
- Maryam Neishabury (ORCID: https://orcid.org/0000-0002-0315-529X)
- Hossein Najmabadi (ORCID: https://orcid.org/0000-0002-6084-7778)
- Milad Rafat (ORCID: https://orcid.org/0000-0001-6529-0043)
- Yassin Bouraqi
Institutions
- Iranian Legal Medicine Organization (IR)
- High Institute for Education and Research in Transfusion Medicine (IR)
- Hospital Labbafinejad (IR)
- University of Social Welfare and Rehabilitation Sciences (IR)
Publication Details
- Journal
- International Journal of Laboratory Hematology
- Published
- 2025-09-18
- DOI
- https://doi.org/10.1111/ijlh.70003
- Primary Topic
- Erythrocyte Function and Pathophysiology
- Type
- article
- Field-Weighted Citation Impact
- 0.00