Living with a Hereditary Anemia—Diagnosis and Clinical Management

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Hematology".

Deadline for manuscript submissions: 28 April 2024 | Viewed by 1836

Special Issue Editors

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Guest Editor
Department of Life Sciences and Biotechnology, Section of Biochemistry and Molecular Biology, Ferrara, Italy
Interests: OMICS analyses; transcriptional regulation of globin genes; gene therapy; induction of fetal hemoglobin, microRNAs, molecular diagnosis
Special Issues, Collections and Topics in MDPI journals

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Guest Editor
Biomedical Research Foundation, Academy of Athens (BRFAA), Basic Research Center, Athens, Greece
Interests: transcriptional regulation; transcription factors, omics analyses; signal transducers and activators of transcription (STATs); hemoglobinopathies

Special Issue Information

Dear Colleagues,

Hereditary anemias are genetically and clinically highly variable diseases (constituted by mild, moderate, or severe forms) and represent a major health problem worldwide, causing childhood mortality and morbidity, especially in developing countries. Even though for many hereditary anemias no definitive cure is available, supportive treatments have significantly contributed to the improvement of the quality of life of affected people (including an increased survival even in the most severe forms of the diseases).

Anemia may be classified as impaired red blood cell (RBC) production or increased RBC destruction (hemolytic anemias). The underlying cause of hereditary anemia may be due to hemoglobinopathies (for instance thalassemias and sickle-cell disease), defects of the red blood cell membrane (for instance hereditary spherocytosis and hereditary elliptocytosis), enzyme deficiencies (for instance glucose-6-phosphate dehydrogenase, the most common cause of acute hemolytic anemia), or inherited bone marrow failure syndromes (such as Fanconi anemia, Diamond–Blackfan anemia, and Shwachman–Diamond syndrome).

The Special Issue will focus on tools available to the scientific community and patients for up-to-date molecular diagnosis and therapeutic approaches for hereditary anemias, including DNA/RNA-based approaches, and cellular and gene therapies. Articles describing clinical and preclinical research will be also considered.

The main topics include, but are not limited to:

  • Hereditary anemias
  • Molecular basis and genetics/epigenetics of hereditary anemias
  • Thalassemia
  • Sickle-cell disease
  • Fanconi anemia
  • Hereditary spherocytosis
  • Diamond–Blackfan anemia
  • Swachman–Diamond syndromes
  • OMICS analyses
  • Defects of red blood cell membrane
  • Erythropoiesis and abnormal erythropoiesis
  • Regulation of iron metabolism
  • MicroRNAs
  • Long non-coding RNAs
  • In vitro experimental model systems
  • In vivo experimental model systems, including transgenic animals
  • Molecular diagnosis
  • Prenatal diagnosis
  • Therapeutic treatments of hereditary anemias
  • Gene therapy
  • Induction of Fetal Hemoglobin
  • Clinical trials

Prof. Dr. Roberto Gambari
Dr. Eleni Katsantoni
Guest Editors

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  • hereditary anemias
  • OMICS analyses
  • non-coding RNAs
  • in vitro experimental model systems
  • molecular diagnosis
  • prenatal diagnosis
  • therapeutic treatments of hereditary anemias
  • gene therapy
  • clinical trials

Published Papers (1 paper)

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13 pages, 676 KiB  
Effect of a Physical Exercise Program on the Inflammatory Response, Cardiac Functions, Functional Capacity, and Quality of Life in Patients with Sickle Cell Disease
by Daniele Andreza Antonelli Rossi, Jonas Alves De Araujo Junior, Gustavo José Luvizutto, Rodrigo Bazan, Péricles Sidnei Salmazo, Gabriel Pinheiro Modolo, João Carlos Hueb, Hélio Rubens de Carvalho Nunes, Newton Key Hokama, Marcos Ferreira Minicucci, Meliza Goi Roscani and Silméia Garcia Zanati Bazan
J. Clin. Med. 2023, 12(12), 3952; - 09 Jun 2023
Cited by 1 | Viewed by 1249
Introduction: The beneficial effects of physical exercise on functional capacity and inflammatory response are well-known in cardiovascular diseases; however, studies on sickle cell disease (SCD) are limited. It was hypothesized that physical exercise may exert a favorable effect on the inflammatory response of [...] Read more.
Introduction: The beneficial effects of physical exercise on functional capacity and inflammatory response are well-known in cardiovascular diseases; however, studies on sickle cell disease (SCD) are limited. It was hypothesized that physical exercise may exert a favorable effect on the inflammatory response of SCD patients, contributing to an improved quality of life. This study aimed to evaluate the effect of a regular physical exercise program on the anti-inflammatory responses in SCD patients. Methods: A non-randomized clinical trial was conducted in adult SCD patients. The patients were divided into two groups: 1—Exercise Group, which received a physical exercise program three times a week for 8 weeks, and; 2—Control Group, with routine physical activities. All patients underwent the following procedures initially and after eight weeks of protocol: clinical evaluation, physical evaluation, laboratory evaluation, quality of life evaluation, and echocardiographic evaluation. Statistical analysis: Comparisons between groups were made using Student’s t-test, Mann–Whitney test, chi-square test, or Fisher’s exact test. Spearman’s correlation coefficient was calculated. The significance level was set at p < 0.05. Results: There was no significant difference in inflammatory response between the Control and Exercise Groups. The Exercise Group showed an improvement in peak VO2 values (p < 0.001), an increase in the distance walked (p < 0.001), an improvement in the limitation domain due to the physical aspects of the 36-Item Short Form Health Survey (SF-36) quality of life questionnaire (p = 0.022), and an increase in physical activity related to leisure (p < 0.001) and walking (p = 0.024) in the International Physical Activity Questionnaire (IPAQ). There was a negative correlation between IL-6 values and distance walked on the treadmill (correlation coefficient −0.444, p = 0.020) and the estimated peak VO2 values (correlation coefficient −0.480; p = 0.013) in SCD patients in both groups. Conclusions: The aerobic exercise program did not change the inflammatory response profile of SCD patients, nor did it show unfavorable effects on the parameters evaluated, and patients with lower functional capacity were those with the highest levels of IL-6. Full article
(This article belongs to the Special Issue Living with a Hereditary Anemia—Diagnosis and Clinical Management)
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