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Children
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Hematologic Diseases in Children: Focus on Genetics and Precision Medicine
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Hematologic Diseases in Children: Focus on Genetics and Precision Medicine

A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Pediatric Hematology & Oncology".

Deadline for manuscript submissions: 10 December 2024 | Viewed by 5044

Special Issue Editor

Dr. Theoni Kanellopoulou

E-Mail Website
Guest Editor
Department of Clinical Hematology-Blood Bank and Hemostasis, Onassis Cardiac Surgery Centre, 176 74 Kallithea, Greece
Interests: hemophilia/thrombosis; laboratory hematology; genetics

Special Issue Information

Dear Colleagues,

Hematologic diseases in children embrace both malignant and non-malignant conditions that are unique to children, or hematologic disorders which are also found in adolescents and adults but require a different, age-related approach.

The role of genetics has been extensively studied in the inherited hematologic disorders as hemoglobinopathies and hemophilia. However, many genetic disorders and syndromes express hematologic manifestations and (epi)genetics also play an important role in malignant hematology. In the era of gene therapy and precision medicine, a better understanding of the genetic background is fundamental.

This Special Issue intended to encourage and improve communication and collaboration between pediatric and adult hematology and promote a multidisciplinary approach with other clinical specialties.

Researchers and physicians are encouraged to share their findings and experience in order to improve knowledge regarding major advances in the diagnosis and treatment of hematologic diseases in children. Contributors are invited to send original research articles, systematic reviews, meta-analyses and case-based reviews.

I look forward to receiving your contributions.

Dr. Theoni Kanellopoulou
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Children is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2400 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • children
  • genetics
  • hematologic diseases
  • hemostasis/thrombosis
  • immunodeficiency
  • laboratory hematology
  • leukemia/lymphoma
  • non-malignant hematology
  • sickle cell disease/thalassemia

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Published Papers (3 papers)

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15 pages, 859 KiB  
Review
Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature
by Danai Veltra, Nikolaos M. Marinakis, Ioannis Kotsios, Polyxeni Delaporta, Kyriaki Kekou, Konstantina Kosma, Joanne Traeger-Synodinos and Christalena Sofocleous
Children 2024, 11(6), 705; https://doi.org/10.3390/children11060705 - 7 Jun 2024
Viewed by 1165
Abstract
Shwachman Diamond Syndrome (SDS) is a multi-system disease characterized by exocrine pancreatic insufficiency with malabsorption, infantile neutropenia and aplastic anemia. Life-threatening complications include progression to acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS), critical deep-tissue infections and asphyxiating thoracic dystrophy. In most patients, [...] Read more.
Shwachman Diamond Syndrome (SDS) is a multi-system disease characterized by exocrine pancreatic insufficiency with malabsorption, infantile neutropenia and aplastic anemia. Life-threatening complications include progression to acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS), critical deep-tissue infections and asphyxiating thoracic dystrophy. In most patients, SDS results from biallelic pathogenic variants in the SBDS gene, different combinations of which contribute to heterogenous clinical presentations. Null variants are not well tolerated, supporting the theory that the loss of SBDS expression is likely lethal in both mice and humans. A novel complex genotype (SBDS:c.[242C>G;258+2T>C];[460-1G>A]/WFS1:c.[2327A>T];[1371G>T]) was detected in a family with recurrent neonatal deaths. A female neonate died three hours after birth with hemolytic anemia, and a male neonate with severe anemia, thrombocytopenia and neutropenia succumbed on day 40 after Staphylococcus epidermidis infection. A subsequent review of the literature focused on fatal complications, complex SBDS genotypes and/or unusual clinical presentations and disclosed rare cases, of which some had unexpected combinations of genetic and clinical findings. The impact of pathogenic variants and associated phenotypes is discussed in the context of data sharing towards expanding scientific expert networks, consolidating knowledge and advancing an understanding of novel underlying genotypes and complex phenotypes, facilitating informed clinical decisions and disease management. Full article
(This article belongs to the Special Issue Hematologic Diseases in Children: Focus on Genetics and Precision Medicine)
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11 pages, 1335 KiB  
Review
The Diverse Genomic Landscape of Diamond–Blackfan Anemia: Two Novel Variants and a Mini-Review
by Iordanis Pelagiadis, Ioannis Kyriakidis, Nikolaos Katzilakis, Chrysoula Kosmeri, Danai Veltra, Christalena Sofocleous, Stavros Glentis, Antonis Kattamis, Alexandros Makis and Eftichia Stiakaki
Children 2023, 10(11), 1812; https://doi.org/10.3390/children10111812 - 15 Nov 2023
Viewed by 2038
Abstract
Diamond–Blackfan anemia (DBA) is a ribosomopathy characterized by bone marrow erythroid hypoplasia, which typically presents with severe anemia within the first months of life. DBA is typically attributed to a heterozygous mutation in a ribosomal protein (RP) gene along with a defect in [...] Read more.
Diamond–Blackfan anemia (DBA) is a ribosomopathy characterized by bone marrow erythroid hypoplasia, which typically presents with severe anemia within the first months of life. DBA is typically attributed to a heterozygous mutation in a ribosomal protein (RP) gene along with a defect in the ribosomal RNA (rRNA) maturation or levels. Besides classic DBA, DBA-like disease has been described with variations in 16 genes (primarily in GATA1, followed by ADA2 alias CECR1, HEATR3, and TSR2). To date, more than a thousand variants have been reported in RP genes. Splice variants represent 6% of identifiable genetic defects in DBA, while their prevalence is 14.3% when focusing on pathogenic and likely pathogenic (P/LP) variants, thus highlighting the impact of such alterations in RP translation and, subsequently, in ribosome levels. We hereby present two cases with novel pathogenic splice variants in RPS17 and RPS26. Associations of DBA-related variants with specific phenotypic features and malignancies and the molecular consequences of pathogenic variations for each DBA-related gene are discussed. The determinants of the spontaneous remission, cancer development, variable expression of the same variants between families, and selectivity of RP defects towards the erythroid lineage remain to be elucidated. Full article
(This article belongs to the Special Issue Hematologic Diseases in Children: Focus on Genetics and Precision Medicine)
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Other

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7 pages, 1417 KiB  
Case Report
Case of Congenital Hemolytic Anemia with ATP11C and ANK1 Variants
by Wei Xu, Mengmeng Ma, Sai Zhao, Yufang Yuan and Zhaofang Tian
Children 2023, 10(10), 1600; https://doi.org/10.3390/children10101600 - 25 Sep 2023
Viewed by 1129
Abstract
A male infant of Han descent, with a G1P1 mother and gestational age of 40+4 weeks, was born via cesarean section owing to his mother having pregnancy complications, including premature rupture of membranes, chorioamnionitis, and gestational diabetes. On the [...] Read more.
A male infant of Han descent, with a G1P1 mother and gestational age of 40+4 weeks, was born via cesarean section owing to his mother having pregnancy complications, including premature rupture of membranes, chorioamnionitis, and gestational diabetes. On the first day after birth, routine blood examination showed that his total red blood cells count was 2.32 × 1012/L, hemoglobin count was 77 g/L, and C-reactive protein count was 48.99 mg/L. After receiving an anti-infection treatment for 10 days and two blood transfusions (100 mL in total), he was discharged from a neonatal intensive care unit (NICU). Accessory examinations showed that reticulocytes in the peripheral blood were significantly increased, the morphology of red blood cells was normal, and all hemolysis-related examinations were normal; bone marrow examinations showed that the proliferation of the red blood cell system was low and serum ferritin and vitamin B12 levels were elevated. Because of the unexplained hemolysis, a whole-exome sequencing examination was performed. The results showed a hemizygous variant of the ATP11C gene (c.3136a>t/p ile 1046phe) and a frame-shift variant of the ANK1 gene (c.937del/pala313 leufs*19). After a six-month follow-up, the serum ferritin and vitamin B12 levels had gradually decreased to normal levels, and hemoglobin and reticulocyte values were 97 g/L and 7.17%, respectively, in the peripheral blood. No splenomegaly was found in physical examination. Full article
(This article belongs to the Special Issue Hematologic Diseases in Children: Focus on Genetics and Precision Medicine)
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