Results 1 to 10 of about 14,684 (152)
Vnitřní lékařství, 2018 This article summarize molecular-genetic basis of hemoglobinopathies, their classification and phenotypic manifestations. The description of individual subgroups is supplemented with a case reports of patients diagnosed in the Czech population. This paper provides an overview of 14 types of α-thalassemic mutations, 34 β-thalassemic alleles, 4 δβ ...
Karel, Indrák +6 more
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Assessment and Benchmarking of Model Informed Approaches in Drug Development for Hemoglobinopathies: A Review of Scientific Advices From January 2000 to December 2024. [PDF]
CPT Pharmacometrics Syst PharmacolABSTRACT Despite the fact that modeling and simulation are now recognized as promising innovative methodologies, their use in the context of development of drugs for sickle cell disease and Thalassemia has not yet been reviewed. Considering the challenges of conducting clinical trials for hemoglobinopathies, our work aims at exploring the current ...
Govere GS, Dogné JM, Musuamba F.
europepmc +2 more sources
Hemoglobinopathy SD presenting as Hemoglobinopathy SS
Medicina (Ribeirão Preto), 2017 This case report shows the interaction of hemoglobin (Hb) S with Hb D. in a child previously diagnosed with sickle cell anemia based on the Hb electrophoretic migration pattern in alkaline pH. The sickling phenomenon was confirmed with 2% sodium metabisulfite.
Sonia Maria Lissa +4 more
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, 2021 Hereditary hemoglobin disorders with thalassemia and sickle-cell anemia are the most common monogenic diseases in the world. It is estimated that about 1-5% of the global population is the carriers of a genetic thalassemia mutation. Hemoglobinopathies are among the most common hereditary blood diseases also in Turkey and are an important health problem
Arpacı, Abdullah +2 more
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Diagnostic Limitations of Hemoglobin A1c in the Setting of Compound Hemoglobinopathy: A Case Report of Sickle Cell Disease, Alpha Thalassemia, and Occult Diabetes. [PDF]
CureusToperzer K, Moon A.
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Newborn Screening for Hemoglobinopathies and Thalassemias: Brief History, Recent Activities, and Global Status-2026. [PDF]
Int J Neonatal ScreenTherrell BL.
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miRNA-Mediated Regulation of γ-Globin to β-Globin Switching: Therapeutic Potential in β-Hemoglobinopathies. [PDF]
Int J Mol SciAlotaibi D +11 more
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