In Patients with Minor Beta-Thalassemia, Cognitive Performance Is Related to Length of Education, But not to Minor Beta-Thalassemia or Hemoglobin Levels [PDF]
Objective: Thalassemia is one of the most frequent monogenic disorders, leading to impairment in the maturation and survival of red blood cells. The question examined here is whether, and if so, to what extent, people with beta-thalassemia might also be ...
Mohammad Ahmadpanah +5 more
doaj +1 more source
Genetic and Clinical Characteristics of Thalassemia Trait and Construction of LASSO-Based Model for Its Differentiating From Iron Deficiency Anemia in Northern China. [PDF]
This study revealed a β‐thalassemia‐trait‐dominated genetic spectrum in Northern‐Chinese patients with microcytic hypochromic anemia, with _αSEA/αα, HBB:c.316_197C>T and HBB:c.124_127delTTCT being the most prevalent α‐ and β‐globin genotypes. Using LASSO regression, we constructed a nomogram based on four routine complete‐blood‐count parameters (RBC ...
Yu WJ +6 more
europepmc +2 more sources
Renal tubular dysfunction with nephrocalcinosis in a patient with beta thalassemia minor
Thalassemia is a hereditary anemia resulting from defect in hemoglobin production. Beta thalassemia is due to impaired production of beta globin chains, leading to a relative excess of alpha globin chains.
Prabahar Murugesan +4 more
doaj +1 more source
Difficulties in diagnosing thalassemia minor
Here we outline a practical approach to the detection of thalassemias in some clinical settings. Any patient with a low mean corpuscular volume (MCV) with or without anemia or a neonatal screening result indicating possible presence of thalassemia minor ...
Karaman, Serap, Apak, Hilmi
core +2 more sources
Insulin-like growth factor-1 levels in children with Beta-thalassemia minor [PDF]
Objective: Growth retardation in children with b-thalassemia major is multifactorial. Some etiologies described for this condition are hemochromatosis, disturbed growth hormone (GH) / insulin growth factor-1 (IGF-1) axis, undernutrition and ...
Mehran Karimi +2 more
doaj +1 more source
Aplikasi Screening Thalassemia Minor Menggunakan Metode C4.5 Berbasis Laravel [PDF]
Thalassemia adalah kelainan darah yang dapat diwariskan yang menyebabkan anemia dan rapuhnya sel darah merah. Thalassemia minor merupakan salah satu jenis thalassemia dimana penderita merupakan pembawa sifat thalassemia dan hanya mengalami anemia ringan.
SOHPUTRO, Nicolas
core
The aim of the present research is to study different protein fractions in sera of children and adolescent with β –thalassemia major and minor and to compare the results with that of healthy control.One hundred fifty children and adolescents were ...
Ali M. Malik +3 more
doaj +3 more sources
Genotypic-Phenotypic Correlations in Non-HbE β-Thalassemia Intermedia: A Geographic Systematic Review. [PDF]
β‐Thalassemia intermedia exhibits distinct region‐specific molecular patterns shaped by three interacting genetic axes: β‐globin mutation severity, HbF‐inducing modifiers, and α‐globin gene dosage. Mediterranean populations are predominantly mutation‐driven, Middle Eastern populations rely on HbF compensation, and Asian populations are governed by ...
Fernando K, Perera S, Premawardhena A.
europepmc +2 more sources
Phenotypic and Genotypic Analysis of Two Rare Cases of ‐‐SEA/‐α4.3HbH Disease [PDF]
We report two unrelated adult patients with rare deletional HbH disease (genotype ‐‐SEA/‐α4.3). This novel 4.3 kb deletion covering the HBA1 gene is accompanied by X‐Y‐Z segment recombination, which was identified by CycloneSEQ long‐read nanopore sequencing.
Yang W +7 more
europepmc +2 more sources

