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PubMed This is a summary of 21 peer-reviewed journal articles Updated
Pediatric Hematology

Building Your Expert Care Team

At a Glance

Children with autosomal recessive congenital sideroblastic anemia benefit from a coordinated team led by a pediatric hematologist, with genetics, transfusion, iron-monitoring, and organ specialists involved as needed. Bringing complete records makes second opinions more useful.

Because Autosomal Recessive Congenital Sideroblastic Anemia (ARCSA) is an ultra-rare condition, your child’s care requires more than a standard pediatrician or local hematologist. You are building a “team of experts” who must work together to balance lifesaving transfusions with the complex management of iron overload [1][2].

Finding a Home Base

Most local hospitals may never have seen a case of ARCSA. While local hospitals can often provide excellent routine transfusions, it is highly recommended to seek a “home base” at a major academic medical center with a dedicated Pediatric Rare Anemia Program or an Inherited Bone Marrow Failure Center [1][3]. These centers have the specialized laboratory equipment and imaging technology—like T2 MRI*—required to monitor your child safely and coordinate complex decisions [4][5].

The Core Care Team

Your child’s team will likely be led by a Pediatric Hematologist who specializes in red blood cell disorders [2]. As you navigate the diagnosis, you will also need:

  • Primary Care Pediatrician: To manage routine childhood illnesses, vaccinations, and overall growth.
  • Medical Geneticist/Genetic Counselor: To explain the specific gene mutation and help with testing for siblings or other family members, as well as discuss reproductive options for the future [6][7].
  • Transfusion Medicine & Pharmacy: To ensure blood products are appropriately matched and chelation medications are dosed safely.
  • Transplant Hematologist: To evaluate whether a hematopoietic stem cell transplant (HSCT) is an appropriate option and to begin the search for a donor [3][8].
  • Specialized Radiologist: An expert who can accurately interpret quantitative iron MRIs of the liver and heart [4][9].
  • Social Work & Child Life: Psychosocial support is critical. Social workers assist with school accommodations and insurance, while Child Life specialists help children cope with needle pokes and MRI anxiety.

As your child grows, or if iron levels rise, you may add:

  • Endocrinologist: To monitor growth, puberty, and bone health, which can be affected by iron buildup [10][11].
  • Cardiologist: To monitor heart function using echocardiograms and cardiac T2* MRIs [9][12].
  • Other Specialists: Depending on the specific gene involved (such as TRNT1 or PUS1), you may need an immunologist, audiologist (for hearing), or neurologist [13][14][15].

Preparing for a Second Opinion

When visiting a specialist for a second opinion, you are your child’s most important record-keeper. Bringing the actual “raw data” allows a new expert to see what the previous doctors saw [4][16].

The Essential Evidence Kit

  • Physical Slides/Images: Ask your current hospital’s pathology department for the original bone marrow aspirate slides (or high-resolution digital scans), especially the ones showing the Prussian blue (Perls) stain [17][18].
  • Genetic Lab Reports: Do not just bring a summary. Bring the full, multi-page report from the genetic laboratory, including the specific variant nomenclature (the “code” for the mutation) and any parental carrier testing results [19][16].
  • Imaging Data: Request a CD or digital link containing the actual DICOM files (the raw images) of any liver or heart MRIs, not just the typed radiologist’s report, which may require a formal medical records release [4][5].
  • Transfusion & Iron Logs: A simple spreadsheet showing your child’s hemoglobin levels, ferritin trends, and the date/volume of every transfusion they have received [20][21].

Having this “evidence kit” ready ensures that your time with a specialist is spent discussing a treatment plan rather than waiting for missing paperwork [1]. Although it is a lot to manage, being organized is one of the most powerful ways you can advocate for your child’s health.

Common questions in this guide

Why does my child with ARCSA need a specialized care team?
Autosomal recessive congenital sideroblastic anemia is very rare and may require regular transfusions along with monitoring for iron overload. A coordinated team brings together pediatric blood-disorder care, genetics, transfusion support, imaging, and organ monitoring.
Which specialists are usually involved in ARCSA care?
A pediatric hematologist usually coordinates care with the primary pediatrician, a medical geneticist or genetic counselor, transfusion and pharmacy specialists, and psychosocial support staff. Depending on iron levels, age, genetic findings, or treatment plans, the team may also include transplant, imaging, hormone, heart, immune, hearing, or nervous-system specialists.
How can I choose a medical center for my child's ARCSA care?
Look for a major academic medical center with a pediatric rare anemia program or an inherited bone marrow failure center. Ask whether it can coordinate transfusions, iron-overload monitoring, quantitative T2* MRI of the liver and heart, genetics, and transplant consultation.
What records should I bring to an ARCSA second opinion?
Bring original or digital bone marrow slides, including Perls stain images when available; full genetic laboratory reports with the exact variant and family testing; actual liver and heart MRI files, often called DICOM files; and a transfusion and iron log. Include hemoglobin levels, ferritin results, and the date and volume of each transfusion.
Why are T2* MRIs important for a child with ARCSA?
Quantitative T2* MRI helps specialists measure iron in the liver and heart and monitor possible iron-related organ damage. The results can help guide iron-removing medicine and decisions about heart or liver follow-up.
Should my child meet a transplant team before a transplant is recommended?
An early consultation with a pediatric transplant hematologist can explain whether hematopoietic stem cell transplant may be an option and how donor searches work. It is an information-gathering step and does not mean that a transplant is definitely needed.

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References

References (21)
  1. 1

    Clinical characterization and hematopoietic stem cell transplant outcomes for congenital sideroblastic anemia caused by a novel pathogenic variant in SLC25A38.

    Uminski K, Houston DS, Hartley JN, et al.

    Pediatric blood & cancer 2020; (67(10)):e28623 doi:10.1002/pbc.28623.

    PMID: 32790119
  2. 2

    Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing.

    Cazzola M, Malcovati L

    Hematology. American Society of Hematology. Education Program 2015; (2015()):19-25 doi:10.1182/asheducation-2015.1.19.

    PMID: 26637696
  3. 3

    Graft failure after reduced-intensity stem cell transplantation for congenital sideroblastic anemia.

    Imataki O, Uchida S, Uemura M, Kadowaki N

    Pediatric hematology and oncology 2019; (36(1)):46-51 doi:10.1080/08880018.2019.1578844.

    PMID: 30912988
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    Role of liver magnetic resonance imaging in hyperferritinaemia and the diagnosis of iron overload.

    Ruefer A, Bapst C, Benz R, et al.

    Swiss medical weekly 2017; (147()):w14550.

    PMID: 29120023
  5. 5

    Cardiac and hepatic siderosis in myelodysplastic syndrome, thalassemia and diverse causes of transfusion-dependent anemia: the TIMES study.

    Ho PJ, Hiwase D, Ramakrishna R, et al.

    HemaSphere 2019; (3(3)):e224 doi:10.1097/HS9.0000000000000224.

    PMID: 31723837
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    Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing.

    Mehri M, Zarin M, Ardalani F, et al.

    Blood cells, molecules & diseases 2018; (71()):39-44 doi:10.1016/j.bcmd.2018.02.002.

    PMID: 29499877
  7. 7

    Identification of 2 novel noncoding variants in patients with Diamond-Blackfan anemia syndrome by whole genome sequencing.

    Wen T, Boyden SE, Hocutt CM, et al.

    Blood advances 2025; (9(10)):2443-2452 doi:10.1182/bloodadvances.2024015347.

    PMID: 40029997
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    Allogenic Hematopoietic Stem Cell Transplant in Iranian Patients With Congenital Sideroblastic Anemia: A Single-Center Experience.

    Shamsian BS, Jafari MR, Abolghasemi H, et al.

    Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation 2023; (21(1)):70-75 doi:10.6002/ect.2022.0081.

    PMID: 36757170
  9. 9

    Early detection of ventricular dysfunction by tissue Doppler echocardiography related to cardiac iron overload in patients with thalassemia.

    Silvilairat S, Charoenkwan P, Saekho S, et al.

    The international journal of cardiovascular imaging 2021; (37(1)):91-98 doi:10.1007/s10554-020-01949-8.

    PMID: 32728990
  10. 10

    IARS2-related disease manifesting as sideroblastic anemia and hypoparathyroidism: A case report.

    Gong Y, Lan XP, Guo S

    Frontiers in pediatrics 2022; (10()):1080664 doi:10.3389/fped.2022.1080664.

    PMID: 36704128
  11. 11

    Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort.

    Fouquet C, Le Rouzic MA, Leblanc T, et al.

    British journal of haematology 2019; (187(4)):530-542 doi:10.1111/bjh.16100.

    PMID: 31338833
  12. 12

    Relationship between T2* magnetic resonance imaging-derived liver and heart iron content and serum ferritin levels in transfusion-dependent thalassemic children.

    Suthar K, Goyal VK, Sharma P, et al.

    Asian journal of transfusion science 2018; (12(1)):69-74 doi:10.4103/ajts.AJTS_3_17.

    PMID: 29563679
  13. 13

    Expanding the spectrum of Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) syndrome: a case report with new clinical insights and novel genetic variant.

    Delle Cave F, Taietti I, Agostini A, et al.

    Frontiers in immunology 2026; (17()):1876025 doi:10.3389/fimmu.2026.1876025.

    PMID: 42688123
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    Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.

    Giannelou A, Wang H, Zhou Q, et al.

    Annals of the rheumatic diseases 2018; (77(4)):612-619 doi:10.1136/annrheumdis-2017-212401.

    PMID: 29358286
  15. 15

    A Case of Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA Syndrome) and Long QT Interval in a 10-Year-Old Saudi Child.

    Abbas AA, Monagel DA, Althubaiti SJ

    Saudi journal of medicine & medical sciences 2026; (14(1)):96-99 doi:10.4103/sjmms.sjmms_716_25.

    PMID: 41675948
  16. 16

    A novel homozygous C15ORF41 variant (c.251T > A; p.Val84Glu) causing congenital dyserythropoietic anemia type Ib in an Indian patient: molecular and structural evidence.

    Kamble P, Dongerdiye R, More T, et al.

    Molecular biology reports 2026; (53(1)).

    PMID: 42397456
  17. 17

    Causes and Pathophysiology of Acquired Sideroblastic Anemia.

    Rodriguez-Sevilla JJ, Calvo X, Arenillas L

    Genes 2022; (13(9)) doi:10.3390/genes13091562.

    PMID: 36140729
  18. 18

    Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Congenital Anemias.

    Steinberg-Shemer O, Tamary H

    Molecular diagnosis & therapy 2020; (24(4)):397-407 doi:10.1007/s40291-020-00478-3.

    PMID: 32557003
  19. 19

    Congenital-onset MLASA2 from a novel YARS2 variant: A literature review.

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    Journal of neuromuscular diseases 2026; (13(4)):802-807 doi:10.1177/22143602251369227.

    PMID: 40808490
  20. 20

    Management of Iron Overload in Infants and Toddlers With Diamond-Blackfan Anemia Syndrome: A French-Italian Study.

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  21. 21

    Genetically Confirmed Dual Hematologic Disorder: A Case of β-Thalassemia with Frameshift Mutation and Type 3 von Willebrand Disease in a Pediatric Patient.

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This page is for informational purposes only and does not constitute medical advice. Your child's pediatric hematologist and care team should tailor referrals, monitoring, transfusions, chelation, and transplant discussions to your child's needs.

Guide contents Anemia, sideroblastic, pyridoxine-responsive, autosomal recessive
Research & Literature
04 Treating ARCSA 06 Monitoring and Long-Term Life with ARCSA