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Diagnostics
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Sickle Cell Disease: Recent Advances in Diagnosis and Management
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Sickle Cell Disease: Recent Advances in Diagnosis and Management

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Clinical Laboratory Medicine".

Deadline for manuscript submissions: closed (28 February 2025) | Viewed by 2090

Special Issue Editor

Dr. Christopher L. Edwards

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Guest Editor
Department of Psychology, North Carolina Central University, 1801 Fayetteville St., Durham, NC 27707, USA
Interests: pain; sickle cell disease; rare diseases; psychoneuroendocrinology; chronic pain

Special Issue Information

Dear Colleagues,

This is a dedicated Special Issue that delves into the intricacies of this hereditary blood disorder, focusing on advancements in diagnostic techniques and therapeutic strategies. It comprehensively reviews our current understanding of the disease's pathogenesis, highlights emerging biomarkers for early detection, and explores innovative treatments ranging from genetic interventions to supportive care. The scope encompasses novel diagnostic tools, patient-centered management protocols, and the psychosocial aspects of living with sickle cell disease. Through expert contributions, this Special Issue aims to enhance clinical practice and improve patient outcomes. 

Dr. Christopher L. Edwards
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. Diagnostics is an international peer-reviewed open access semimonthly 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 2600 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

  • sickle cell disease
  • diagnosis
  • management
  • therapeutic strategies
  • genetic interventions
  • supportive care
  • pathogenesis

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Published Papers (2 papers)

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11 pages, 582 KiB  
Article
Operational Feasibility of Point-of-Care Testing for Sickle Cell Disease in Resource-Limited Settings of Tribal Sub-Plan Region of India
by Mahendra Thakor, Janesh Kumar Gautam, Ansuman Panigrahi, Dharmendra Garasiya, Shankar Lal Brhamnia and Suman Sundar Mohanty
Diagnostics 2025, 15(3), 348; https://doi.org/10.3390/diagnostics15030348 - 2 Feb 2025
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Abstract
Background: Sickle cell disease (SCD) individuals in India are mostly identified when they become symptomatic. To provide a timely diagnosis of SCD to participants, healthcare workers should be competent in using the point-of-care test (POCT). In this study, we aimed to evaluate [...] Read more.
Background: Sickle cell disease (SCD) individuals in India are mostly identified when they become symptomatic. To provide a timely diagnosis of SCD to participants, healthcare workers should be competent in using the point-of-care test (POCT). In this study, we aimed to evaluate the competence of healthcare workers to screen infants and adult populations through POCT. Methodology: This study was conducted in pilot mode over 8 months from April to November 2023. A random sampling method was used to select ten auxiliary nursing midwives (ANMs), ten lab technicians (LTs), and five medical officers (MOs). Each selected ANM and LT was supposed to conduct ten tests and MOs to conduct five tests. The POCT used to diagnose sickle cell disease was HemoTypeSC. Results: Among the healthcare workers who participated in the study, 67% belonged to the scheduled tribes. When the ANM and LT competencies were compared for the pre-analytical phase (phase I), ANMs were more competent than the LTs. ANMs were more adept at handling people, whereas the LTs were more competent in conducting the test procedures. When the comparison was made for the analytical phase (phase II), both the ANMs and LTs were found to be equally competent. ANMs followed the standard operating procedure (SOP) more precisely than MOs and LTs. In the post-analytical phase, LTs were found to be more competent than ANMs. The approach used in this study with sub-centers and primary health centers (PHCs) appears to have encouraged the feasibility of the screening program. Conclusions: The results of this study conclude that the healthcare workers in the region are competent to perform the POCT for the diagnosis of sickle cell disease. The POCT may be introduced in the program for the diagnosis of SCD. Full article
(This article belongs to the Special Issue Sickle Cell Disease: Recent Advances in Diagnosis and Management)
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14 pages, 1773 KiB  
Protocol
Protocol for a Multicentric Cohort Study on Neonatal Screening and Early Interventions for Sickle Cell Disease Among High-Prevalence States of India
by Suchitra Surve, Mahendra Thakor, Manisha Madkaikar, Harpreet Kaur, Shrey Desai, Rajasubramanium Shanmugam, Suman Sundar Mohanty, Apoorva Pandey, Anna Salomi Kerketta, Kapil Dave, Kalpita Ganpat Gawit, Lakshmana Bharathi Ramasamy, Oshin Warerkar, Prabhakar Kedar, Ragini Kulkarni, Saritha Nair, Nithin Rajamani and Anita Nadkarni
Diagnostics 2025, 15(6), 730; https://doi.org/10.3390/diagnostics15060730 - 14 Mar 2025
Viewed by 623
Abstract
Background: Sickle cell disease (SCD) is consequently associated with increased rates of infant and childhood morbidity and mortality. Therefore, early detection is a crucial aspect of managing SCD to mitigate complications and improve health outcomes for SCD children. Neonatal screening is the primary [...] Read more.
Background: Sickle cell disease (SCD) is consequently associated with increased rates of infant and childhood morbidity and mortality. Therefore, early detection is a crucial aspect of managing SCD to mitigate complications and improve health outcomes for SCD children. Neonatal screening is the primary method for identifying newborns with SCD, enabling early diagnosis, family screening, and comprehensive medical care. The protocol presented in this paper describes a study aimed at screening newborns for SCD in high-prevalence SCD states of India to understand the magnitude of the problem and the benefits of early comprehensive care along with the genotypic and phenotypic correlation. Methods: A prospective cohort study will be conducted across seven sites in six states of India (Rajasthan, Odisha, Tamil Nadu, Maharashtra, Madhya Pradesh, and Gujarat), having a high prevalence of SCD. The cord blood or heel prick samples of all the live-born babies delivered within the facilities of selected regions will be collected for screening SCD by HPLC (High-Performance Liquid Chromatography). All the sickle cell homozygous (SS) babies will be confirmed at 6 weeks for Sickle genotype along with cascade screening. Further, SS babies will be followed up from six weeks up to five years of life with initiation of folic acid, antibiotic prophylaxis, and hydroxyurea treatment at appropriate times. Results: The protocol aims to lay the groundwork for the smooth implementation of newborn screening programs and effective follow-up strategies. Conclusions: It will pave the way for developing a strategic framework for implementing newborn screening programs for haemoglobinopathies in India. Full article
(This article belongs to the Special Issue Sickle Cell Disease: Recent Advances in Diagnosis and Management)
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