Showing 61 - 80 results of 113 for search '"thalassemia"', query time: 0.05s Refine Results
  1. 61

    Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families by Elisa Fermo, Cristina Vercellati, Anna Paola Marcello, Anna Zaninoni, Richard van Wijk, Nadia Mirra, Cristina Curcio, Agostino Cortelezzi, Alberto Zanella, Wilma Barcellini, Paola Bianchi

    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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    Red Blood Cell Alloimmunization and Autoimmunization in Blood Transfusion-Dependent Sickle Cell Disease and β-Thalassemia Patients in Al-Ahsa Region, Saudi Arabia by Fahd A. Kuriri, Abdulrahman Ahmed, Fehaid Alanazi, Fahad Alhumud, Mohammed Ageeli Hakami, Osama Atiatalla Babiker Ahmed

    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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  5. 65

    THERAPEUTIC GENE EDITING FOR HEMOGLOBINOPATHIES by Ugo Testa, Giuseppe Leone, Maria Domenica Cappellini

    Published 2024-08-01
    Subjects: “…Gene editing; gene therapy; Hemoglobinopathies; Thalassemia; Sickle Cell Anemia.…”
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  6. 66

    Clinical Study of Mobile Application- (App-) Based Family-Centered Care (FCC) Model Combined with Comprehensive Iron Removal Treatment in Children with Severe Beta Thalassemia by Yuke Chen, Xiuping Huang, Qingmei Lu, Jian Lu, Xiaoxiao Huang, Yanni Luo, Fengxing Huang

    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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  7. 67

    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 by Hossein Jalali, Mahan Mahdavi, Mohammad Eslamijouybari, Mohammad Reza Mahdavi

    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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    Multivariable Discriminant Analysis for the Differential Diagnosis of Microcytic Anemia by Eloísa Urrechaga, Urko Aguirre, Silvia Izquierdo

    Published 2013-01-01
    “…Iron deficiency anemia and thalassemia are the most common causes of microcytic anemia. …”
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  11. 71

    Detection of Rare Beta Globin Gene Mutation [+22 5UTR(G>A)] in an Infant, Despite Prenatal Screening by Mohammad Reza Mahdavi, Hosein Karami, Mohammad Taghi Akbari, Hosein Jalali, Payam Roshan

    Published 2013-01-01
    “…Background. Beta thalassemia is one of the most common hereditary disorders worldwide. …”
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  12. 72

    Comprehensive Hematological and molecular Characterization of hemoglobin Hekinan [α27(B8)Glu→Asp(α1), HBA1:c.84G > T] in a Large Thai cohort by Amornchai Suksusut, Jidapa Jaitheang, Manussavee Prapphal, Pranee Sutcharitchan, Ponlapat Rojnuckarin, Noppacharn Uaprasert

    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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  13. 73

    Gambaran Status Gizi Anak Talasemia β Mayor di RSUP Dr. M. Djamil Padang by Dona Mirsa Putri, Fadil Oenzil, Efrida

    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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    Alpha-Hemoglobin-Stabilizing Protein: An Erythroid Molecular Chaperone by Maria Emília Favero, Fernando Ferreira Costa

    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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    Seroprevalence of Hepatitis C, Hepatitis B, Cytomegalovirus, and Human Immunodeficiency Viruses in Multitransfused Thalassemic Children in Upper Egypt by Ramadan A. Mahmoud, Abdel-Azeem M. El-Mazary, Ashraf Khodeary

    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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