Is there a difference in phenotype between males and females with non-transfusion-dependent thalassemia? A cross-sectional evaluation

Marsella, Maria; Ammirabile, Massimiliano; Matola, Tiziana Di; Pepe, Alessia; Costantini, Silvia; Filosa, Aldo; Ricchi, Paolo

doi:10.1080/10245332.2017.1413789

Cited by 6 publications

(6 citation statements)

References 11 publications

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“…Firstly, the prevalence of anemia was higher in females than males (5.53% vs 0.51%), which is similar to a study by Marsella M et al that adopted a cross-sectional evaluation. [ 26 ] Anemia is caused in most females through the loss of iron during pregnancy and menstruation. Secondly, the proportions of individuals with work-related pressure and social tensions were both higher among females than males (15.39% vs 13.61%, 8.22% vs 7.88%, respectively).…”

Section: Discussionmentioning

confidence: 99%

The risk factors of adverse pregnancy outcome for pre-pregnancy couples in Hunan, China

Xie¹,

Xiang

Wang³

et al. 2020

Medicine

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To identify the prevalence of chronic disease and behavior risk factors of adverse pregnancy outcome for pre-pregnancy couples in Hunan province, China. A retrospective study including cross-sectional datas from the Free Pre-pregnancy Health Check (FPHC) surveillance system of Hunan, China in 2019 was conducted. Microsoft Excel 2010 was used for preliminary data analysis. The fowllowing descriptive analysis, t-tests, and Chi-Squared tests were carried out using SPSS 25.0. Among 419,971 couples, 182,450 (21.72%) individuals were older than 35 years, 257,471(69.48%) couples planned to have a second or additional child and 114,892 (27.36%) individuals had a history of adverse pregnancy outcomes. The mean number of risk factors of adverse pregnancy outcome was higher in males than that in females (2.17 per male vs 1.92 per female). The prevalence/proportions of hypertension, increased psychological pressure, high alanine transaminase or creatinine, smoking, passive smoke exposure, alcohol use, and exposure to environmental risk factors were higher in males than that in females (2.43% vs 1.35%, 0.68% vs 0.54%, 12.80% vs 5.93%, 2.52% vs 1.47%, 27.70% vs 0.24%, 10.94% vs 3.58%, 15.62% vs 1.07%, and 1.46% vs 1.15%, respectively). The proportion of females with an abnormal cervix was 3.35%, and the proportion of males with abnormal wrapping was 1.90%. The prevalence/proportions of anemia and work-related pressure or social tensions were higher in females than that in males (5.53% vs 0.51%, 15.39% vs 13.61%, and 8.22% vs 7.88%, respectively). History of adverse pregnancy outcomes and age olderthan 35 years were important risk factors for pre-pregnancy couples in Hunan province. The mean number of risk factors was higher in males than that in females. Hypertension, increased psychological pressure, high alanine transaminase and creatinine levels, smoking, passive smoke exposure, alcohol use, and exposure to dangerous environmental factors were the major risk factors for males. Anemia, work-related pressure and social tensions were the major risk factors for females.

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Section: Discussionmentioning

confidence: 99%

The risk factors of adverse pregnancy outcome for pre-pregnancy couples in Hunan, China

Xie¹,

Xiang

Wang³

et al. 2020

Medicine

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“…Patients with TI usually do not need regular or frequent blood transfusion; thus, TI is a type of non-transfusion dependent thalassemia (NTDT) [23]. However, TI is not free of complications related to iron accumulation, in which hemostasis and hepcidin regulation are affected [45]. Iron is absorbed at higher rates through the intestinal mucosa in TI, promoting iron loading in different body tissues; if not treated with chelating therapies, iron toxicity develops, leading to the failure of various vital organs and finally death [56].…”

Section: Introductionmentioning

confidence: 99%

“…However, TI is not free of complications related to iron accumulation, in which hemostasis and hepcidin regulation are affected [45]. Iron is absorbed at higher rates through the intestinal mucosa in TI, promoting iron loading in different body tissues; if not treated with chelating therapies, iron toxicity develops, leading to the failure of various vital organs and finally death [56]. To measure iron overload, serum ferritin (SF) is commonly used as it is usually elevated during iron accumulation.…”

Section: Introductionmentioning

confidence: 99%

Relationship between liver iron concentration determined by R2-MRI, serum ferritin, and liver enzymes in patients with thalassemia intermedia

et al. 2018

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BackgroundIron overload is a risk factor affecting all patients with thalassemia intermedia (TI). We aimed to determine whether there is a relationship of serum ferritin (SF) and alanine aminotransferase (ALT) with liver iron concentration (LIC) determined by R2 magnetic resonance imaging (R2-MRI), to estimate the most relevant degree of iron overload and best time to chelate in patients with TI.MethodsIn this cross-sectional study, 119 patients with TI (mean age years) were randomly selected and compared with 120 patients who had a diagnosis of thalassemia major (TM). Correlations of LIC, as determined by R2-MRI, with SF and ALT levels, were assessed in all participants. A P-value <0.05 was considered statistically significant.ResultsSF and LIC levels were lower in patients with TI than in those with TM; only ferritin values were significant. We found a statistically significant relationship between SF and LIC, with cut-off estimates of SF in patients with TI who had splenectomy and those who entered puberty spontaneously (916 and 940 ng/mL, respectively) with LIC >5 mg Fe/g dry weight (P<0.0001). A significant relationship was also found for patients with TI who had elevated ALT level (63.5 U/L), of 3.15 times the upper normal laboratory limit, using a cut-off for LIC ≥5 mg Fe/g dry weight.ConclusionWe determined the cut-off values for ALT and SF indicating the best time to start iron chelation therapy in patients with TI, and found significant correlations among iron overload, SF, and ALT.

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“…36 Epidemiological studies suggested that there are no major differences in the prevalence of common complications among male and female thalassemia patients. 47 Nevertheless, male patients exhibit more cardiac morbidity and reduced survival, 48 and are more prone to bone disease. 49 Thus, male Th3/+ mice offer a physiologically relevant model to explore the roles of lipidome and intestinal microbiome in the development of iron overload-related cardiomyopathy in thalassemia.…”

Section: Discussionmentioning

confidence: 99%

“…The metabolic phenotype of male Th3/+ mice may be related to iron‐induced impaired insulin biosynthesis and secretion from pancreatic beta cells 46 but also to insulin resistance, which are common in thalassemia 36 . Epidemiological studies suggested that there are no major differences in the prevalence of common complications among male and female thalassemia patients 47 . Nevertheless, male patients exhibit more cardiac morbidity and reduced survival, 48 and are more prone to bone disease 49 .…”

Section: Discussionmentioning

confidence: 99%

Perturbations in lipid metabolism and gut microbiota composition precede cardiac dysfunction in a mouse model of thalassemia

Liu,

Fillebeen,

Forest

et al. 2023

The FASEB Journal

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Cardiomyopathy is a major complication of thalassemia, yet the precise underlying molecular mechanisms remain unclear. We examined whether altered lipid metabolism is an early driving factor in the development of cardiomyopathy using the Th3/+ mouse model of thalassemia. At age 20 weeks, male and female Th3/+ mice manifested anemia and iron overload; however, only males displayed metabolic defects and altered cardiac function. Untargeted lipidomics indicated that the circulating levels of 35 lipid species were significantly altered in Th3/+ mice compared to wild‐type controls: triglycerides (TGs) with saturated fatty acids (FAs; TG42:0 and TG44:0) were elevated, while TGs with unsaturated FAs (TG(18:2_20:5_18:2 and TG54:8)) were reduced. Similarly, phosphatidylcholines (PCs) with long chain FAs (palmitic (16:0) or oleic (18:1)) were increased, while PCs with polyunsaturated FAs decreased. Circulating PC(16:0_14:0), GlcCer(d18:1/24:0) correlated significantly with iron overload and cardiac hypertrophy. 16S rRNA gene profiling revealed alterations in the intestinal microbiota of Th3/+ mice. Differentially abundant bacterial genera correlated with PC(39:6), PC(18:1_22:6), GlcCer(d18:1/24:1) and CE(14:0). These results provide new knowledge on perturbations in lipid metabolism and the gut microbiota of Th3/+ mice and identify specific factors which may represent early biomarkers or therapeutic targets to prevent development of cardiomyopathy in β‐thalassemia.

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Is there a difference in phenotype between males and females with non-transfusion-dependent thalassemia? A cross-sectional evaluation

Cited by 6 publications

References 11 publications

The risk factors of adverse pregnancy outcome for pre-pregnancy couples in Hunan, China

The risk factors of adverse pregnancy outcome for pre-pregnancy couples in Hunan, China

Relationship between liver iron concentration determined by R2-MRI, serum ferritin, and liver enzymes in patients with thalassemia intermedia

Perturbations in lipid metabolism and gut microbiota composition precede cardiac dysfunction in a mouse model of thalassemia

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