Saudi Arabia is known to have high prevalence of hereditary blood disorder similar to neighboring Mediterranean countries, in particular sickle-cell disease and thalassemia. With increasing number of affected individual (Saadallah AA, Rashed MS. J Inherit Metab Dis. 2007;30:482-489), the Ministry of Health (MOH) had implemented a mandatory premarital testing for hemoglobinopathies (sickle-cell disease and thalassemia). Since November 2003, all Saudi couples planning for marriage are required to perform the test (Alhamdan NA, Almazrou YY, Alswaidi FM, Coudhry AJ. Genet Med. 2007;9(6):372-377). Besides its preventive efforts, the MOH had also increased its efforts to improve the health care given to affected hereditary blood disease patients. To that effect, a plan to increase the number of specialized hereditary blood disease centers in different regions is existing. In addition, a Consultation Board, Hereditary Blood Disease Advisory Committee, was formed in January 2008. This committee, under the directorate of MOH, took the responsibility of laying down the foundation for internationally high standard of medical care given in treatment center dealing with patients with hereditary blood disorders. In this report, we will shed some light on such accomplishment.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.3109/03630260903346437 | DOI Listing |
Zh Nevrol Psikhiatr Im S S Korsakova
December 2024
Republican Scientific and Practical Center of Neurology and Neurosurgery, Minsk, Belarus.
Objective: To analyze the results of nocturnal breathing parameters during sleep based on nocturnal pulse oximetry and to study of characteristics of external respiration in genetically confirmed patients with dystrophic myotonia (DM).
Material And Methods: The subjects of the study were patients with genetically confirmed DM types 1 and 2 who were hospitalized in the neurological departments of the Republican Scientific and Practical Center for Neurology and Neurosurgery. The clinical picture of the disease, comorbidities, sleep questionnaires, laboratory tests, overnight pulse oximetry and spirometry were performed and analyzed.
Int J Lab Hematol
December 2024
Department of Hematology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.
Background: δβ-thalassemia/HPFH is an uncommon hemoglobinopathy characterized by decreased or the total absence of production of δ- and β-globin and increased HbF levels. Both these disorders have variable genotype and phenotype, but significant overlap in the clinical and laboratory findings. Given the lack of literature in this regard, the study aimed to estimate the prevalence of the disease and evaluate its clinical, hematological, and molecular profile in India.
View Article and Find Full Text PDFGen Thorac Cardiovasc Surg Cases
December 2024
Department of Thoracic Surgery, Kyoto University Graduate School of Medicine, Kyoto, 606-8507, Japan.
Background: Lung transplantation is a viable lifesaving option for patients with diffuse pulmonary arteriovenous malformations (AVMs). We present a case of diffuse pulmonary AVMs associated with juvenile polyposis and hereditary hemorrhagic telangiectasia (JP-HHT) that was successfully managed by lung transplantation.
Case Presentation: A 19-year-old woman developed severe hypoxemia due to pulmonary AVMs diagnosed at 4 years of age.
Metabolites
December 2024
IVF Unit, Department of Obstetrics and Gynecology, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41110 Larissa, Greece.
Thalassemia is an autosomal recessive hereditary chronic hemolytic anemia characterized by a partial or complete deficiency in the synthesis of alpha- or beta-globin chains, which are essential components of adult hemoglobin. Mutations in the globin genes lead to the production of unstable globin chains that precipitate within cells, causing hemolysis. This shortens the lifespan of mature red blood cells (RBCs) and results in the premature destruction of RBC precursors in the bone marrow.
View Article and Find Full Text PDFBackground Sickle cell disease (SCD) is a hereditary disorder marked by abnormal hemoglobin (HbS), leading to chronic hemolytic anemia, vaso-occlusive crises (VOCs), and multi-organ complications. In India, the prevalence of SCD is highest among tribal populations in states like Madhya Pradesh, Maharashtra, Odisha, and Assam, with the disease burden exacerbated by limited healthcare access, especially in rural regions. This study provides a comprehensive analysis of the demographic profile, clinical features, and treatment patterns of SCD patients at a tertiary healthcare center in Upper Assam, where the prevalence of SCD is high among the tea tribe communities.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!