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Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families
Published 2017-01-01“…We report the clinical, haematological, and molecular characteristics of four patients from two unrelated Italian families affected by HX, associated with beta-thalassemia trait and heterozygous pyruvate kinase deficiency, respectively. …”
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Beta Talasemi Tanılı Bireye Omaha Sınıflandırma Sistemi ile Verilen Hemşirelik Bakımının İncelenmesi: Olgu Sunumu
Published 2023-04-01Subjects: “…beta-thalassemia…”
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Relationship between cognitive impairment and hippocampal iron overload: A quantitative susceptibility mapping study of a rat model
Published 2025-02-01Subjects: Get full text
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Red Blood Cell Alloimmunization and Autoimmunization in Blood Transfusion-Dependent Sickle Cell Disease and β-Thalassemia Patients in Al-Ahsa Region, Saudi Arabia
Published 2023-01-01“…Alloimmunization rates in patients with SCD and thalassemia were 16.7% and 11.97%, respectively, while autoimmunization rates in patients with SCD and thalassemia were 5.3% and 0.7%, respectively. …”
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THERAPEUTIC GENE EDITING FOR HEMOGLOBINOPATHIES
Published 2024-08-01Subjects: “…Gene editing; gene therapy; Hemoglobinopathies; Thalassemia; Sickle Cell Anemia.…”
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Clinical Study of Mobile Application- (App-) Based Family-Centered Care (FCC) Model Combined with Comprehensive Iron Removal Treatment in Children with Severe Beta Thalassemia
Published 2022-01-01“…Hemoglobinopathy is one of the most prevalent monogenic disorders in the world. Thalassemia is characterized by autosomal recessive deficiencies in hemoglobin production. …”
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Coinheritance of the c.-19 G > C and c.315 + 1 G > A Variants in the β-Globin Gene Leads to Thalassemia Disease: A Report from the North of Iran
Published 2023-01-01“…In the present study, our aim is to introduce the first report of a case with thalassemia intermedia with coinheritance of the c.315 + 1 G > A pathogenic variant and a silent variant (HBB: c.-19 G > C) that was missed during the screening program. …”
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Health-Related Quality of Life, Treatment Satisfaction, Adherence and Persistence in β-Thalassemia and Myelodysplastic Syndrome Patients with Iron Overload Receiving Deferasirox: Results from the EPIC Clinical Trial
Published 2012-01-01“…Compared to age-matched norms, β-thalassemia and MDS patients reported lower SF-36 domain scores at baseline. …”
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69
Multisystem inflammatory syndrome in children with COVID-19 in a multitransfused patient
Published 2024-01-01Subjects: Get full text
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Multivariable Discriminant Analysis for the Differential Diagnosis of Microcytic Anemia
Published 2013-01-01“…Iron deficiency anemia and thalassemia are the most common causes of microcytic anemia. …”
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Detection of Rare Beta Globin Gene Mutation [+22 5UTR(G>A)] in an Infant, Despite Prenatal Screening
Published 2013-01-01“…Background. Beta thalassemia is one of the most common hereditary disorders worldwide. …”
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Comprehensive Hematological and molecular Characterization of hemoglobin Hekinan [α27(B8)Glu→Asp(α1), HBA1:c.84G > T] in a Large Thai cohort
Published 2025-12-01“…These included 104 Hb Hekinan heterozygotes, 10 Hb Hekinan coexisting with α+-thalassemia, 3 Hb Hekinan with non-deletional α-variants, 6 Hb Hekinan with α0-thalassemia, 21 double heterozygote for Hb Hekinan and HbE, 3 Hb Hekinan with β-thalassemia trait, 1 triple heterozygotes (Hb Hekinan/α0-thalassemia/Hb E) and 1 quadruple heterozygote for Hb Hekinan/α+-thalassemia/Hb E/Hb Hope. …”
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Gambaran Status Gizi Anak Talasemia β Mayor di RSUP Dr. M. Djamil Padang
Published 2015-09-01“…The highest insident of upper arm circumference per age is 70%-85% (80%).The conclusion of this research that the nutritional status children with thalassemia beta major is low nutrional.<br />Keywords: nutritional status, thalassemia beta major<br /><br /><br />…”
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Study of the Prevalence of Cytomegalovirus in Children with Malignancy in Southwestern Iran from 2016-2023
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A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome
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Study of Frequency and Characteristics of Red Blood Cell Alloimmunization in Thalassemic Patients: Multicenter Study from Palestine
Published 2019-01-01“…Background. β-Thalassemia is a common inherited hemolytic disorder in Palestine. …”
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Alpha-Hemoglobin-Stabilizing Protein: An Erythroid Molecular Chaperone
Published 2011-01-01“…Reduced AHSP mRNA expression has been associated with clinical variability in some cases of β-thalassemia. It has been shown that αHb variants may also impair AHSP-αHb interactions, leading to pathological conditions that resemble α-thalassemia syndromes. …”
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Prevalence and mortality trends of hemoglobinopathies in Italy: a nationwide study
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Seroprevalence of Hepatitis C, Hepatitis B, Cytomegalovirus, and Human Immunodeficiency Viruses in Multitransfused Thalassemic Children in Upper Egypt
Published 2016-01-01“…Frequent blood transfusions in thalassemia major children expose them to the risk of transfusion-transmitted infections (TTIs). …”
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