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Syed Ibrahim Bukhari: Transforming the Diagnosis of IBMFC through Genomic in LMICs
Syed Ibrahim Bukhari/LinkedIn
Apr 25, 2026, 09:27

Syed Ibrahim Bukhari: Transforming the Diagnosis of IBMFC through Genomic in LMICs

Syed Ibrahim Bukhari, Clinical Fellow at The Hospital for Sick Children, shared a post on LinkedIn about a recent article he and his colleagues co-authored, published in Expert Review of Hematology, adding:

“Proud to share our recent publication in Expert Review of Hematology

Genetic insights and diagnostic challenges in inherited bone marrow failure syndromes: a comprehensive study from a low middle-income country

Inherited bone marrow failure syndromes (IBMFS) are rare, complex, and frequently misdiagnosed as idiopathic aplastic anemia—especially in resource-limited settings where access to advanced diagnostics remains challenging.

In our pediatric cohort, genomic testing proved transformative:

  • 34% diagnostic yield with confirmed molecular diagnoses
  • Several children had their original diagnosis revised after genetic testing
  • Commonly affected genes included MPL, FANCA, and DNAJC21
  • Findings directly impacted treatment decisions, donor selection for HSCT, and family counseling
  • High rates of VUS highlighted the urgent need for better South Asian representation in global genomic databases

Why this matters:

For children with marrow failure, the correct diagnosis can mean the difference between immunosuppressive therapy, disease-specific treatment, or urgent transplant planning.

Our study reinforces that precision medicine should not be limited by geography.

Grateful to my co-authors, mentors, and all families who made this work possible.”

Title: Genetic insights and diagnostic challenges in inherited bone marrow failure syndromes: a comprehensive study from a low middle-income country

Authors: Syed Ibrahim Bukhari, Fizza Akbar, Salman Kirmani, Zehra Fadoo, Asim Fakhruddin Belgaumi, Sadaf Altaf

Syed Ibrahim Bukhari

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aplastic anemia Asim Fakhruddin Belgaumi DNAJC21 Expert Review of Hematology FANCA Fizza Akbar HSCT LBMFS LMICs MPL Sadaf Altaf Salman Kirmani South Asia Syed Ibrahim Bukhari VUS Zehra Fadoo
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