Optimal nutritional status is imperative for growth, development, immune function, and bone health. Patients with thalassemia are known to have poor growth, altered puberty, and immune function as well as reduced bone mineral acquisition. The etiology of these comorbidites is typically ascribed to the toxic effects of transfusion-related iron-overload. Recently, our group and others have observed marked nutritional deficiencies in key fat and water-soluble vitamins as well as important essential minerals. Depressed circulating levels of nutrients have been observed despite seemingly adequate dietary intake. This disconnect between intake and circulating levels suggests that patients with thalassemia may have increased needs for certain nutrients due to either poor nutrient absorption, elevated losses, or increased nutrient turnover. Randomized controlled clinical trials are needed to test the efficacy of nutritional therapies toward improving the overall health in thalassemia, as well as decreasing long-term comorbidities such as reduced bone mass.
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http://dx.doi.org/10.1111/j.1749-6632.2010.05578.x | DOI Listing |
Haematologica
January 2025
Department of Medicine, University of Verona and Azienda Ospedaliera Universitaria Integrata of Verona, Verona, Italy; Veneto Region Referral Center for Iron Disorders and European Reference Network Center for Rare Hematological Diseases "EuroBloodNet".
Not available.
View Article and Find Full Text PDFBr J Haematol
January 2025
Department of Molecular Hematology, Sanquin Research and Landsteiner Laboratory, Amsterdam, the Netherlands.
In this study, we aimed to explore the inflammatory and angiogenic pathways in sickle cell disease (SCD). We used proximity extension assay technology (Olink) to measure 92 plasma proteins involved in inflammation and angiogenesis. Plasma samples were collected from 57 SCD patients (sickle cell anaemia/HbS-β thalassaemia-thalassaemia) in steady-state and 13 healthy ethnicity-matched healthy controls (HCs).
View Article and Find Full Text PDFZhongguo Shi Yan Xue Ye Xue Za Zhi
December 2024
Central Laboratory, Guangxi Key Laboratory of Metabolic Reprogramming and Intelligent Medical Engineering for Chronic Diseases, The Second Affiliated Hospital of Guilin Medical University, Guilin 541199, Guangxi Zhuang Autonomous Region, China.
Objective: To explore the genotypes and frequency distribution of thalassemia in Lingui District, Guilin City, and provide reference for the prevention and control of thalassemia in this area.
Methods: The results of genetic testing for thalassemia in 1 501 suspected cases at the Second Affiliated Hospital of Guilin Medical University were analyzed retrospectively. The deletional mutations of α-thalassemia were detected by gap-PCR, the non-deletional mutations of α-thalassemia and β-thalassemia mutations were detected by PCR-reverse dot blot (PCR-RDB).
Front Pediatr
December 2024
Pediatric Clinic and Rare Diseases, Microcitemico Hospital "A. Cao", University of Cagliari, Cagliari, Italy.
Background: Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome, is a rare genetic disorder, caused by mutations in the ATRX gene. Clinical manifestations include typical facial dysmorphisms, mild-to-severe intellectual disability, hypotonia, genital anomalies, significant gastrointestinal (GI) complications, such as abdominal distension, chronic constipation, feeding difficulties, gastroesophageal reflux, and mild-to-moderate anemia secondary to alpha-thalassemia.
Case Presentation: We report a patient with ATR-X syndrome suffering from gastrointestinal dysmotility and highlight the beneficial effects of pyridostigmine.
Cureus
November 2024
Community Medicine, Baba Raghav Das Medical College, Gorakhpur, IND.
Background Thalassemia is the most common form of hereditary anemia caused by the impaired synthesis of one of the two globin chains in hemoglobin. A decrease in beta-globin chains occurs in beta-thalassemia, resulting in a relative excess of alpha-globin chains. Thalassemia major is the severe form of thalassemia, which requires frequent blood transfusions for survival.
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