Microcytic Anemia

Zanetti, Richard; Feldman, Brian L; Porea, Timothy

doi:10.1542/pir.2019-0295

Cited by 3 publications

(6 citation statements)

References 15 publications

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“…α-thalassemia is most likely caused by large deletion mutations in the α-globin gene ( Fig 5A and B ) ( Richardson, 2007 ; DeLoughery, 2014 ; Urrechaga et al, 2015 ; Zanetti et al, 2021 ). Thus, we first used BreakDancer v1.3.6 to screen for common and large deletions in the α-globin gene cluster region in Taiwanese participants.…”

Section: Resultsmentioning

confidence: 99%

“…Searching for deletion mutations in the α-globin gene region in participants with WGS data: BreakDancer and PCR analysis with direct DNA sequencing α-thalassemia is most likely caused by large deletion mutations in the α-globin gene (Fig 5A and B) (Richardson, 2007;DeLoughery, 2014;Urrechaga et al, 2015;Zanetti et al, 2021). Thus, we first used BreakDancer v1.3.6 to screen for common and large deletions in the α-globin gene cluster region in Taiwanese participants.…”

Section: Association Of the Three Variants On Chromosome 16p133 With ...mentioning

confidence: 99%

“…Microcytic anemia is the most common type of anemia in both childhood and adulthood ( Richardson, 2007 ; DeLoughery, 2014 ; Urrechaga et al, 2015 ; Zanetti et al, 2021 ). Microcytic anemia is characterized by the presence of small-sized erythrocytes because of the decreased availability of hemoglobin components, such as globins, iron, and heme; this, in turn, causes a reduction in the hemoglobin content in RBC precursors, subsequently resulting in delayed erythroid differentiation ( DeLoughery, 2014 ; Cappellini et al, 2020 ).…”

Section: Introductionmentioning

confidence: 99%

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Causal links of α-thalassemia indices and cardiometabolic traits and diabetes: MR study

Hsu,

Wu,

Teng

et al. 2023

Life Sci. Alliance

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Our study aimed to investigate if genetic variants around 16p13.3’sHBA1locus, associated with erythrocyte indices and HbA1c levels, predict α-thalassemia-related erythrocyte indices, cardiometabolic traits, and diabetes risk in Taiwanese individuals. We analyzed Taiwan Biobank data, including whole-genome sequencing from 1,493 participants and genotyping arrays from 129,542 individuals. First, we performed regional association analysis using whole-genome sequencing data to identify genetic variants significantly associated with erythrocyte indices, confirming their linkage disequilibrium with the α0thalassemia --SEAdeletion mutation, a common cause of α-thalassemia in Southeast Asian populations. Deletion mutation sequencing further validated these variants’ association with α-thalassemia. Subsequently, we analyzed genotyping array data, revealing associations between specific genetic variants and cardiometabolic traits, including lipid profiles, HbA1c levels, bilirubin levels, and diabetes risk. Using Mendelian randomization, we established causal relationships between α-thalassemia-related erythrocyte indices and cardiometabolic traits, elucidating their role in diabetes susceptibility. Our findings highlight genetic variants around the α-globin genes as surrogate markers for common α-thalassemia mutations in Taiwan, emphasizing the causal links between α-thalassemia-related erythrocyte indices, cardiometabolic traits, and heightened diabetes risk.

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Section: Resultsmentioning

confidence: 99%

Section: Association Of the Three Variants On Chromosome 16p133 With ...mentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Causal links of α-thalassemia indices and cardiometabolic traits and diabetes: MR study

Hsu,

Wu,

Teng

et al. 2023

Life Sci. Alliance

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“…In iron deficiency, hepcidin synthesis is decreased, resulting in an increase in both ferroportin expression and iron availability. 7 Iron deficiency anemia (IDA) affects approximately 2 billion people worldwide. 8 Children between 2 and 5 years of age and post-menarcheal adolescent females are the two pediatric age-groups at highest risk for developing IDA.…”

Section: Nutritional Deficiencies Iron Deficiencymentioning

confidence: 99%

“…9 The prevalence of IDA in post-menarcheal adolescent females may be as high as 15.6%. 7 The most common risk factors for the development of iron deficiency in children include prematurity, nutrient-poor diet, consumption of more than 24 ounces of cow's milk per day, and chronic blood loss. 10 In infants, the introduction of cow's milk within the first year of life is the most important dietary risk factor associated with IDA.…”

Section: Nutritional Deficiencies Iron Deficiencymentioning

confidence: 99%

Anemia and Associated Risk Factors in Pediatric Patients

Martinez-Torres,

Torres,

Davis

et al. 2023

PHMT

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Anemia is the most common hematologic abnormality identified in children and represents a major global health problem. A delay in diagnosis and treatment might place patients with anemia at risk for the development of rare but serious complications, including chronic and irreversible cognitive impairment. Identified risk factors contributing to the development of anemia in children include the presence of nutritional deficiencies, environmental factors, chronic comorbidities, and congenital disorders of hemoglobin or red blood cells. Pediatricians, especially those in the primary care setting, serve a particularly critical role in the identification and care of those children affected by anemia. Prompt recognition of these risk factors is crucial for developing appropriate and timely therapeutic interventions and prevention strategies.

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Anemia

Nelson¹

2023

Caring for the Hospitalized Child: A Handbook of Inpatient Pediatrics

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Microcytic Anemia

Cited by 3 publications

References 15 publications

Causal links of α-thalassemia indices and cardiometabolic traits and diabetes: MR study

Causal links of α-thalassemia indices and cardiometabolic traits and diabetes: MR study

Anemia and Associated Risk Factors in Pediatric Patients

Anemia

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