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Ugeskrift For Laeger Oct 2020Sickle cell disease (SCD) is the most common severe hereditary disease worldwide. SCD during pregnancy is associated with increased incidence of perinatal mortality,... (Review)
Review
Sickle cell disease (SCD) is the most common severe hereditary disease worldwide. SCD during pregnancy is associated with increased incidence of perinatal mortality, premature labour, foetal growth restriction, and acute painful crises. Global migration has contributed to a greater geographical spread of individuals with hereditary haemoglobinopathies. This has led to an increased incidence of pregnant women with SCD in Denmark. In this review, we descibe the aetiology, assessment, antenatal care and treatment of pregnant women with SCD.
Topics: Anemia, Sickle Cell; Female; Fetal Growth Retardation; Humans; Incidence; Pregnancy; Pregnancy Complications, Hematologic; Pregnancy Outcome
PubMed: 33118496
DOI: No ID Found -
Molecular Therapy : the Journal of the... May 2024In recent years, a growing number of clinical trials have been initiated to evaluate gene therapy approaches for the treatment of patients with transfusion-dependent... (Review)
Review
In recent years, a growing number of clinical trials have been initiated to evaluate gene therapy approaches for the treatment of patients with transfusion-dependent β-thalassemia and sickle cell disease (SCD). Therapeutic modalities being assessed in these trials utilize different molecular techniques, including lentiviral vectors to add functional copies of the gene encoding the hemoglobin β subunit in defective cells and CRISPR-Cas9, transcription activator-like effector protein nuclease, and zinc finger nuclease gene editing strategies to either directly address the underlying genetic cause of disease or induce fetal hemoglobin production by gene disruption. Here, we review the mechanisms of action of these various gene addition and gene editing approaches and describe the status of clinical trials designed to evaluate the potentially for these approaches to provide one-time functional cures to patients with transfusion-dependent β-thalassemia and SCD.
Topics: Humans; Genetic Therapy; Gene Editing; CRISPR-Cas Systems; Hemoglobinopathies; Genetic Vectors; Clinical Trials as Topic; Anemia, Sickle Cell; beta-Thalassemia; Animals; Lentivirus
PubMed: 38454604
DOI: 10.1016/j.ymthe.2024.03.005 -
Journal of Diabetes Science and... Jan 2020
Topics: Diabetes Mellitus; Glycated Hemoglobin; Hemoglobinopathies; Humans
PubMed: 30897962
DOI: 10.1177/1932296819841698 -
Saudi Medical Journal Feb 2020To investigate the prevalence and significance of different endocrinopathies in children and adolescents with transfusion-dependent thalassemia and sickle-cell anemia.
OBJECTIVES
To investigate the prevalence and significance of different endocrinopathies in children and adolescents with transfusion-dependent thalassemia and sickle-cell anemia.
METHODS
This is a descriptive, retrospective study between January 2010 and July 2018 in King Abdulaziz University Hospital, Jeddah, Saudi Arabia. Data was collected through reviewing electronic hospital medical records then filling out data collection sheets and was interpreted through the IBM SPSS Statistics for Windows version 20.0 (IBM Corp, Armonk, NY, USA). Results: The total sample size was 119 patients, gender equality was almost achieved with 55.5% being male and 45.5% being female. The most common endocrinopathies were identified in the following order of short stature (39.5%), diabetes mellitus (29.4%), hypogonadism (12.6%), osteopenia (12.6%), osteoporosis (9.2%), hypothyroidism (9.2%), hypocortisolism (3.4%), and hypoparathyroidism (2.5%). All of which were statistically significant in their relationship to hemoglobinopathies with the exception of osteopenia and osteoporosis. Hypogonadism and hypocortisolism were found to be statistically significant in their relationship to a positive history of splenectomy at p=0.026 and p=0.012. Short stature was found to be statistically significant in its relationship to the male gender with a p=0.001. Conclusion: Endocrinopathy is a frequent complication of hemoglobinopathies, for which the most common were found to be short stature, diabetes mellitus, and low bone mineral density.
Topics: Adolescent; Anemia, Sickle Cell; Blood Transfusion; Body Height; Bone Density; Child; Data Analysis; Diabetes Mellitus; Endocrine System Diseases; Female; Hemoglobinopathies; Humans; Male; Prevalence; Retrospective Studies; Saudi Arabia; Thalassemia; Time Factors
PubMed: 32020146
DOI: 10.15537/smj.2020.2.24845 -
British Journal of Haematology Jun 2023Antenatal screening/testing of pregnant women should be carried out according to the guidelines of the National Health Service (NHS) Sickle Cell and Thalassaemia...
Antenatal screening/testing of pregnant women should be carried out according to the guidelines of the National Health Service (NHS) Sickle Cell and Thalassaemia Screening Programme. Newborn screening and, when necessary, follow-up testing and referral, should be carried out according to the guidelines of the NHS Sickle Cell and Thalassaemia Screening Programme. All babies under 1 year of age arriving in the United Kingdom should be offered screening for sickle cell disease (SCD). Preoperative screening for SCD should be carried out in patients from ethnic groups in which there is a significant prevalence of the condition. Emergency screening with a sickle solubility test must always be followed by definitive analysis. Laboratories performing antenatal screening should utilise methods that are capable of detecting significant variants and are capable of quantitating haemoglobins A and F at the cut-off points required by the national antenatal screening programme. The laboratory must ensure a provisional report is available for antenatal patients within three working days from sample receipt.
Topics: Infant, Newborn; Female; Humans; Pregnancy; State Medicine; Hemoglobinopathies; Anemia, Sickle Cell; Neonatal Screening; Thalassemia; Hematology
PubMed: 37271570
DOI: 10.1111/bjh.18794 -
The New England Journal of Medicine May 2024
Topics: Humans; Genetic Therapy; United States; Hematopoietic Stem Cells; Gene Editing; Anemia, Sickle Cell; beta-Thalassemia; Hematopoietic Stem Cell Transplantation; Hemoglobinopathies; Health Services Accessibility
PubMed: 38657269
DOI: 10.1056/NEJMe2403104 -
Hematology/oncology Clinics of North... Dec 2022This overview of reproductive and sexual health care concerns for people with sickle cell disease (SCD) addresses clinical concerns that can be complex and are... (Review)
Review
This overview of reproductive and sexual health care concerns for people with sickle cell disease (SCD) addresses clinical concerns that can be complex and are inherently multidisciplinary. Clinicians must be prepared to initiate reproductive health care discussions, as these intimate concerns may not be volunteered by patients. SCD is associated with delayed onset of puberty, sickle pain during menstruation, disease-specific contraceptive considerations, high-risk pregnancy, priapism, erectile dysfunction, and offspring who inherit a hemoglobinopathy trait from affected parents. Reproductive health considerations are underrecognized, undertreated, and understudied. They need attention in primary care and specialty SCD, urology, and obstetrics and gynecology clinics.
Topics: Humans; Male; Pregnancy; Female; Reproductive Health; Anemia, Sickle Cell; Priapism; Pain
PubMed: 36400542
DOI: 10.1016/j.hoc.2022.07.010 -
Ugeskrift For Laeger Jan 2021The prevalence of people in Denmark descending from areas with a high prevalence of haemoglobinopathies is approximately one tenth and increasing. Since 1995, the Danish... (Review)
Review
The prevalence of people in Denmark descending from areas with a high prevalence of haemoglobinopathies is approximately one tenth and increasing. Since 1995, the Danish Health Authority has recommended haemoglobinopathy screening of pregnant women with ethnic roots outside Northern Europe. Partners of pregnant haemoglobinopathy carriers are also tested. Carrier state in both parents leads to genetic counselling, and prenatal diagnostics of the foetus (chorionic villus biopsy or amniocentesis) is offered, which can lead to abortion and/or preimplantation genetic screening for future pregnancies, as discussed in this review.
Topics: Amniocentesis; Denmark; Europe; Female; Hemoglobinopathies; Humans; Pregnancy; Prenatal Diagnosis
PubMed: 33491643
DOI: No ID Found -
Radiographics : a Review Publication of... 2022Sickle cell disorder (SCD) refers to a spectrum of hematologic disorders that cause a characteristic clinical syndrome affecting the entire body. It is the most... (Review)
Review
Sickle cell disorder (SCD) refers to a spectrum of hematologic disorders that cause a characteristic clinical syndrome affecting the entire body. It is the most prevalent monogenetic hemoglobinopathy worldwide, with a wide range of focal and systemic expressions. Hemoglobin gene mutation leads to the formation of abnormal sickle-shaped red blood cells, which cause vascular occlusion and result in tissue and organ ischemia and infarction. Recurrent episodes of acute illness lead to progressive multisystem organ damage and dysfunction. Vaso-occlusion, hemolysis, and infection as a result of functional asplenia are at the core of the disease manifestations. Imaging plays an essential role in the diagnosis and management of SCD-related complications in the abdomen and pelvis. A thorough understanding of the key imaging findings of SCD complications involving hepatobiliary, gastrointestinal, genitourinary, and musculoskeletal systems is crucial to timely recognition and accurate diagnosis. The authors aim to familiarize the radiologist with the SCD spectrum, focusing on the detection and evaluation of manifestations that may appear at imaging of the abdomen and pelvis. The topics the authors address include the pathophysiology of the disease, the placement of SCD among hemoglobinopathies, the clinical presentation of SCD, the role of imaging in the evaluation and diagnosis of patients with SCD who present with abdominal and pelvic manifestations in addition to extraperitoneal manifestations detectable at abdominal or pelvic imaging, imaging features associated with common and uncommon sequelae of SCD in abdominal and pelvic imaging studies, and a brief overview of management and treatment of patients with SCD. RSNA, 2022.
Topics: Abdomen; Anemia, Sickle Cell; Hematologic Diseases; Humans; Pelvis; Vascular Diseases
PubMed: 35559660
DOI: 10.1148/rg.210154 -
Journal of Nepal Health Research Council Apr 2020Sickle cell and thalassemia are the inherited disorders of globin chain synthesis, and are the most common monogenic disease worldwide. This study aims to find the...
BACKGROUND
Sickle cell and thalassemia are the inherited disorders of globin chain synthesis, and are the most common monogenic disease worldwide. This study aims to find the distribution of hemoglobinopathies (sickle cell and thalassemia) cases in Nepal using laboratory based data.
METHODS
A retrospective study was carried out at five different sites of Nepal Government that uses capillary electrophoresis for screening of hemoglobin disorders from January 2019 to March 2019. All the cases diagnosed positive for hemoglobinopathy till December 2018 were collected from laboratory record at each sites, and analyzed using Statistical Package for Social Sciences (SPSS version 20.0).
RESULTS
Out of total 4018 patients tested during the period in all five different sites, 1470 were diagnosed positive for hemoglobinopathy. Sickling disorder was the most predominant hemoglobinopathy followed by ?-thalassemia. Province 5, province 6 and province 7 were mostly affected by sickling disorder while the other provinces by ?-thalassemia.
CONCLUSIONS
Sickle cell is the commonest cause of hemoglobinopathy followed by B thallesmias in Nepalese population. Sickle cell is more concentrated towards western part of Nepal and especially in Tharu ethnic population. In contrast, the distribution of ?-thalassemia is found throughout the country and among all ethnic groups of population.
Topics: Female; Hemoglobinopathies; Humans; Male; Medical Records; Nepal; Retrospective Studies
PubMed: 32335593
DOI: 10.33314/jnhrc.v18i1.2303