Research & Literature

The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.

Sasarman F, Thiffault I, Weraarpachai W, et al.

Human molecular genetics 2015; (24(10)):2841-7 doi:10.1093/hmg/ddv044.

The supportive care needs of parents caring for a child with a rare disease: A scoping review.

Pelentsov LJ, Laws TA, Esterman AJ

Disability and health journal 2015; (8(4)):475-91.

Functional Analysis of GLRX5 Mutants Reveals Distinct Functionalities of GLRX5 Protein.

Liu G, Wang Y, Anderson GJ, et al.

Journal of cellular biochemistry 2016; (117(1)):207-17 doi:10.1002/jcb.25267.

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.

Schmitz-Abe K, Ciesielski SJ, Schmidt PJ, et al.

Blood 2015; (126(25)):2734-8 doi:10.1182/blood-2015-09-659854.

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.

Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction.

Hull S, Malik AN, Arno G, et al.

JAMA ophthalmology 2016; (134(9)):1049-53 doi:10.1001/jamaophthalmol.2015.5833.

The supportive care needs of parents with a child with a rare disease: results of an online survey.

Pelentsov LJ, Fielder AL, Laws TA, Esterman AJ

BMC family practice 2016; (17()):88 doi:10.1186/s12875-016-0488-x.

Characterization of Human and Yeast Mitochondrial Glycine Carriers with Implications for Heme Biosynthesis and Anemia.

Lunetti P, Damiano F, De Benedetto G, et al.

The Journal of biological chemistry 2016; (291(38)):19746-59 doi:10.1074/jbc.M116.736876.

Perceived Benefits and Factors that Influence the Ability to Establish and Maintain Patient Support Groups in Rare Diseases: A Scoping Review.

Delisle VC, Gumuchian ST, Rice DB, et al.

The patient 2017; (10(3)):283-293 doi:10.1007/s40271-016-0213-9.

Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease.

Alfadhel M, Nashabat M, Abu Ali Q, Hundallah K

Neurosciences (Riyadh, Saudi Arabia) 2017; (22(1)):4-13 doi:10.17712/nsj.2017.1.20160542.

Post-mortem study of the association between cardiac iron and fibrosis in transfusion dependent anaemia.

Kirk P, Sheppard M, Carpenter JP, et al.

Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance 2017; (19(1)):36 doi:10.1186/s12968-017-0349-3.

Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays.

Zurynski Y, Deverell M, Dalkeith T, et al.

Orphanet journal of rare diseases 2017; (12(1)):68 doi:10.1186/s13023-017-0622-4.

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Monies D, Abouelhoda M, AlSayed M, et al.

Human genetics 2017; (136(8)):921-939 doi:10.1007/s00439-017-1821-8.

Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation.

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

Blood cells, molecules & diseases 2017; (66()):11-18 doi:10.1016/j.bcmd.2017.07.003.

SIFD as a novel cause of severe fetal hydrops and neonatal anaemia with iron loading and marked extramedullary haemopoiesis.

Barton C, Kausar S, Kerr D, et al.

Journal of clinical pathology 2018; (71(3)):275-278 doi:10.1136/jclinpath-2017-204698.

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.

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.

Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias.

Shefer Averbuch N, Steinberg-Shemer O, Dgany O, et al.

European journal of haematology 2018; (101(3)):297-304 doi:10.1111/ejh.13097.

Congenital sideroblastic anemia: Advances in gene mutations and pathophysiology.

Long Z, Li H, Du Y, Han B

Gene 2018; (668()):182-189 doi:10.1016/j.gene.2018.05.074.

Rare anemias due to genetic iron metabolism defects.

Brissot P, Bernard DG, Brissot E, et al.

Mutation research. Reviews in mutation research 2018; (777()):52-63 doi:10.1016/j.mrrev.2018.06.003.

Alone in a Crowd? Parents of Children with Rare Diseases' Experiences of Navigating the Healthcare System.

Baumbusch J, Mayer S, Sloan-Yip I

Journal of genetic counseling 2018; doi:10.1007/s10897-018-0294-9.

Pathophysiology and classification of iron overload diseases; update 2018.

Brissot P, Troadec MB, Loréal O, Brissot E

Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine 2019; (26(1)):80-88 doi:10.1016/j.tracli.2018.08.006.

GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia.

Daher R, Mansouri A, Martelli A, et al.

Molecular genetics and metabolism 2019; (128(3)):342-351 doi:10.1016/j.ymgme.2018.12.012.

Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias.

Peoc'h K, Nicolas G, Schmitt C, et al.

Molecular genetics and metabolism 2019; (128(3)):190-197 doi:10.1016/j.ymgme.2019.01.015.

Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency.

Kumaki E, Tanaka K, Imai K, et al.

International journal of hematology 2019; (109(4)):382-389 doi:10.1007/s12185-019-02614-0.

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.

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.

Reticulocyte Hemoglobin Equivalent (Ret-He) Combined with Red Blood Cell Distribution Width Has a Differentially Diagnostic Value for Thalassemias.

Lian Y, Shi J, Nie N, et al.

Hemoglobin 2019; (43(4-5)):229-235 doi:10.1080/03630269.2019.1655440.

[Clinical features and gene mutation spectrum in children with sideroblastic anemia].

An WB, An WB, Liu C, et al.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2019; (21(10)):1016-1021.

Novel biallelic TRNT1 mutations lead to atypical SIFD and multiple immune defects.

Yang L, Xue X, Zeng T, et al.

Genes & diseases 2020; (7(1)):128-137 doi:10.1016/j.gendis.2020.01.005.

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.

Understanding Sideroblastic Anemia: An Overview of Genetics, Epidemiology, Pathophysiology and Current Therapeutic Options.

Abu-Zeinah G, DeSancho MT

Journal of blood medicine 2020; (11()):305-318 doi:10.2147/JBM.S232644.

A Novel ALAS2 Missense Mutation in Two Brothers With Iron Overload and Associated Alterations in Serum Hepcidin/Erythroferrone Levels.

Lira Zidanes A, Marchi G, Busti F, et al.

Frontiers in physiology 2020; (11()):581386 doi:10.3389/fphys.2020.581386.

SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.

Heeney MM, Berhe S, Campagna DR, et al.

Human mutation 2021; (42(11)):1367-1383 doi:10.1002/humu.24267.

A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay.

Odom J, Amin H, Gijavanekar C, et al.

American journal of medical genetics. Part A 2022; (188(1)):259-268 doi:10.1002/ajmg.a.62482.

COVID-19 associated respiratory failure complicating a pericardial effusion in a patient with sideroblastic anemia.

Sayad E, Hammoud M, Khreis D, et al.

Respiratory medicine case reports 2021; (34()):101543 doi:10.1016/j.rmcr.2021.101543.

Common needs in uncommon conditions: a qualitative study to explore the need for care in pediatric patients with rare diseases.

Smits RM, Vissers E, Te Pas R, et al.

Orphanet journal of rare diseases 2022; (17(1)):153 doi:10.1186/s13023-022-02305-w.

Healthcare access, satisfaction, and health-related quality of life among children and adults with rare diseases.

Bogart K, Hemmesch A, Barnes E, et al.

Orphanet journal of rare diseases 2022; (17(1)):196 doi:10.1186/s13023-022-02343-4.

The diagnostic odyssey: insights from parents of children living with an undiagnosed condition.

Bauskis A, Strange C, Molster C, Fisher C

Orphanet journal of rare diseases 2022; (17(1)):233 doi:10.1186/s13023-022-02358-x.

When Ring Sideroblasts on Bone Marrow Smears Are Inconsistent with the Diagnosis of Myelodysplastic Neoplasms.

Girard S, Genevieve F, Rault E, et al.

Diagnostics (Basel, Switzerland) 2022; (12(7)) doi:10.3390/diagnostics12071752.

Quality of life of Brazilian families who have children with Rubinstein-Taybi syndrome: An exploratory cross-sectional study.

Vale AR, de Avó LRDS, Pilotto RF, et al.

American journal of medical genetics. Part A 2022; (188(11)):3294-3305 doi:10.1002/ajmg.a.62914.

Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review.

Maccora I, Ramanan AV, Wiseman D, et al.

Journal of clinical immunology 2023; (43(1)):1-30 doi:10.1007/s10875-022-01343-0.

A Rare Autoinflammatory Disorder in a Pediatric Patient with Favorable Response to Etanercept: Sideroblastic Anemia with B Cell Immunodeficiency, Periodic Fevers, and Developmental Delay Syndrome.

Kisla Ekinci RM, Zararsiz A, Demir GU, Anlas O

Pediatric allergy, immunology, and pulmonology 2022; (35(3)):129-132 doi:10.1089/ped.2022.0090.

Causes and Pathophysiology of Acquired Sideroblastic Anemia.

Rodriguez-Sevilla JJ, Calvo X, Arenillas L

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

Iron Metabolism in the Disorders of Heme Biosynthesis.

Ricci A, Di Betto G, Bergamini E, et al.

Metabolites 2022; (12(9)) doi:10.3390/metabo12090819.

Children with a rare congenital genetic disorder: a systematic review of parent experiences.

von der Lippe C, Neteland I, Feragen KB

Orphanet journal of rare diseases 2022; (17(1)):375 doi:10.1186/s13023-022-02525-0.

Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD).

Li Y, Deng M, Han T, et al.

Journal of clinical immunology 2023; (43(4)):780-793 doi:10.1007/s10875-023-01441-7.

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.

Three siblings with variable degrees of neuromuscular involvement and congenital sideroblastic anemia: A peculiar phenotype and a surprise genotypic explanation.

Salam MAE, Salama K, Selim YMM, et al.

Annals of human genetics 2023; (87(4)):166-173 doi:10.1111/ahg.12505.

[Measures for optimal access to psychosocial care of children with rare diseases and their families].

Witt S, Kristensen K, Wiegand-Grefe S, Quitmann J

Innere Medizin (Heidelberg, Germany) 2023; (64(5)):494-499 doi:10.1007/s00108-023-01496-z.

How parents of children with ataxia-telangiectasia use dynamic coping to navigate cyclical uncertainty.

Schiller J, Towne MC, Epstein R, et al.

Journal of genetic counseling 2024; (33(2)):301-313 doi:10.1002/jgc4.1727.

Comprehensive Genomic Analysis Identifies a Diverse Landscape of Sideroblastic and Nonsideroblastic Iron-Related Anemias with Novel and Pathogenic Variants in an Iron-Deficient Endemic Setting.

Sharma P, Bhatia P, Singh M, et al.

The Journal of molecular diagnostics : JMD 2024; (26(5)):430-444 doi:10.1016/j.jmoldx.2024.01.011.

Zinc-Containing Over-The-Counter Product Causing Sideroblastic Anemia and Neutropenia.

Stagg MP, Miatech J, Majid B, Polala R

Cureus 2024; (16(5)):e59796 doi:10.7759/cureus.59796.

Non-syndromic congenital sideroblastic anaemia; phenotype, and genotype of 15 Indian patients.

Dongerdiye R, Kedar PS, Saptarshi A, et al.

Annals of hematology 2024; (103(10)):3987-3998 doi:10.1007/s00277-024-05969-5.

A novel and apparent de novo ALAS2 missense variant associated with congenital sideroblastic anemia.

Cai J, Liu T, Huang Y, et al.

Frontiers in pediatrics 2024; (12()):1411676 doi:10.3389/fped.2024.1411676.

Improving Social Media-Based Support Groups for the Rare Disease Community: Interview Study With Patients and Parents of Children with Rare and Undiagnosed Diseases.

Doyle TA, Vershaw SL, Conboy E, Halverson CME

JMIR human factors 2024; (11()):e57833 doi:10.2196/57833.

Case report: A novel 11-bp deletion in exon 11 causing a frameshift in the C-terminal of the ALAS2 gene leading to X-linked sideroblastic anemia-a family study.

Al Kindi S, Al-Mamari A, Al-Zadjali S, et al.

Frontiers in medicine 2024; (11()):1452873 doi:10.3389/fmed.2024.1452873.

Sideroblastic anemia in children: challenges in diagnosis and management in three cases.

Rekaya S, Ben Fraj I, Hamdi R, et al.

Annals of hematology 2025; (104(4)):2537-2543 doi:10.1007/s00277-025-06266-5.

The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation.

Jové-Solavera D, Rámila M, Ferrer-Cortés X, et al.

Scientific reports 2025; (15(1)):11843 doi:10.1038/s41598-025-95590-x.

A Rare Cause of Primary Microcephaly: 4 New Variants in CDK5RAP2 Gene and Review of the Literature.

Erdogan M, Unal A, Dogan ME, et al.

American journal of medical genetics. Part A 2025; (197(9)):e64072 doi:10.1002/ajmg.a.64072.

Infant With a Severe Form of GLRX5-Related Atypical Hyperglycinemia Exhibiting Novel Cardiac and Neurologic Disease Manifestations at Autopsy.

Ferreira EO, Del Bigio MR, Morin J, Frosk P

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2025; (28(5)):390-394 doi:10.1177/10935266251335065.

Vitamin B6 Deficiency May Not Always Present As Microcytic Hypochromic Anemia.

Nakao S, Nakaseko C, Ishii T, et al.

Cureus 2025; (17(6)):e86768 doi:10.7759/cureus.86768.

Autosomal recessive frameshift variant broadens HECW2-related disease spectrum.

Dehghanzad R, Eshaghkhani Y, Saberi M, et al.

European journal of medical genetics 2025; (77()):105036 doi:10.1016/j.ejmg.2025.105036.

[The 511th case: severe anemia with increased ringed sideroblasts].

Liu ZW, Chen M, Han B

Zhonghua nei ke za zhi 2025; (64(9)):906-910 doi:10.3760/cma.j.cn112138-20250616-00348.

"I don't grieve as much as I used to": A qualitative study on parents of children with rare and undiagnosed conditions navigating grief in the context of uncertainty.

Hoffmann TM, Friedrich B, Lewis C

Journal of genetic counseling 2025; (34(6)):e70149 doi:10.1002/jgc4.70149.

Rare and resilient: Longer-term experiences of families after genetic evaluation in the neonatal intensive care unit.

Abouhala S, Del Rosario MC, Holm IA, Wojcik MH

Genetics in medicine open 2026; (4()):103490 doi:10.1016/j.gimo.2025.103490.

Prognostic Factors for Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fevers, and Developmental Delay Due to TRNT1 Gene Mutations: A Case Report and Systematic Review.

Su TH, Lee NC, Wang LC, et al.

Journal of clinical immunology 2026; (46(1)).

A case report of congenital sideroblastic anemia caused by a novel ALAS2 mutation in conjunction with thalassemia.

Chen ZX, Yang LY, Wang LT, et al.

Annals of hematology 2026; (105(5)).

A diagnostic pitfall in iron-refractory microcytic hypochromic anemia with acquired ring sideroblasts initially treated as iron deficiency anemia-a case report.

Liu X, Ma J, Song A, et al.

Frontiers in medicine 2026; (13()):1838995 doi:10.3389/fmed.2026.1838995.

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.