What question did this study set out to answer?

To investigate the role of a novel frameshift deletion in the SLC25A38 gene associated with mitochondrial dysfunction in a child with sideroblastic anemia.

February 22, 2026Annals of Hematology0 citationsOpen Access

Frameshift Deletion in SLC25A38 and Mitochondrial Dysfunction in Sideroblastic Anemia

A novel frameshift deletion in SLC25A38 and its role in mitochondrial dysfunction: A case study of sideroblastic anemia in a child from Iran

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Authors

EHElaheh Hasani MNMaryam Naghinejad MKMoein Kohkalani

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Overview

Case study reveals a pathogenic deletion in SLC25A38 affecting mitochondrial function in a child, suggesting new diagnostic insights.

Key Points

To investigate the role of a novel frameshift deletion in the SLC25A38 gene associated with mitochondrial dysfunction in a child with sideroblastic anemia.
Conducted clinical and genetic evaluation of a family with a child diagnosed with pyridoxine-refractory sideroblastic anemia.
Performed whole exome sequencing on the patient to identify genetic variations.
Utilized Sanger sequencing on the patient’s parents and additional family members for segregation analysis.
Conducted molecular docking studies to examine the protein structure of SLC25A38 pre- and post-variant.
Identified a pathogenic c.482_485del (p. Ile161ThrfsTer4) variant in the SLC25A38 gene present as homozygotes in the proband and heterozygotes in the parents.
Observed decreased binding and stability of the mutant SLC25A38 protein compared to the wild type.
Reclassified the SLC25A38 variant from likely pathogenic to pathogenic, aiding in clinical decision-making.

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Cite This Study

Hasani et al. (2026) studied this question.

synapsesocial.com/papers/699a9cc6482488d673cd2751 https://doi.org/10.1007/s00277-026-06899-0

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February 22, 2026Annals of Hematology0 citationsOpen Access

Frameshift Deletion in SLC25A38 and Mitochondrial Dysfunction in Sideroblastic Anemia

A novel frameshift deletion in SLC25A38 and its role in mitochondrial dysfunction: A case study of sideroblastic anemia in a child from Iran

View Full Paper

Authors

EHElaheh Hasani MNMaryam Naghinejad MKMoein Kohkalani

Discussion

Member takes

Overview

Case study reveals a pathogenic deletion in SLC25A38 affecting mitochondrial function in a child, suggesting new diagnostic insights.

Key Points

To investigate the role of a novel frameshift deletion in the SLC25A38 gene associated with mitochondrial dysfunction in a child with sideroblastic anemia.
Conducted clinical and genetic evaluation of a family with a child diagnosed with pyridoxine-refractory sideroblastic anemia.
Performed whole exome sequencing on the patient to identify genetic variations.
Utilized Sanger sequencing on the patient’s parents and additional family members for segregation analysis.
Conducted molecular docking studies to examine the protein structure of SLC25A38 pre- and post-variant.
Identified a pathogenic c.482_485del (p. Ile161ThrfsTer4) variant in the SLC25A38 gene present as homozygotes in the proband and heterozygotes in the parents.
Observed decreased binding and stability of the mutant SLC25A38 protein compared to the wild type.
Reclassified the SLC25A38 variant from likely pathogenic to pathogenic, aiding in clinical decision-making.

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Helpful

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View Full Paper

Cite This Study

Hasani et al. (2026) studied this question.

synapsesocial.com/papers/699a9cc6482488d673cd2751 https://doi.org/10.1007/s00277-026-06899-0

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View Full Paper