The article provides an example from clinical practice concerning the case when homozygotic beta-thalassemia was primarily diagnosed in female patient only in mature age because of lacking of manifesting clinical picture typical for this disease.
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Homozygous Delta-Beta Thalassaemia With Alpha Thalassaemia and Erythrocytosis- a Rare Case Report.
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Department of Hematology, Sandwell and West, Birmingham Hospitals National Health Service Trust, West Bromwich, United Kingdom.
In this report, we describe a case of homozygous delta-beta (δβ) thalassaemia, a rare genetic disorder characterized by severe deficiency in delta (δ) and beta (β)-globin chain production, leading to ineffective erythropoiesis and chronic haemolytic anaemia. The patient, a 26-year-old female with δβ-thalassaemia, experienced a miscarriage. High-performance liquid chromatography revealed 89.
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- Thalassemia is a serious genetic blood disorder that requires frequent blood transfusions, and this report documents a unique case of a fetus diagnosed with both β-thalassemia major and the rare Klinefelter syndrome (48,XXYY).
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Characterization and Clinical Assessment of a Peculiar Case of Hemolytic Anemia.
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Laboratory Medicine Department, University Hospital of Tor Vergata, Viale Oxford, 1-00133 Rome, Italy.
Thalassemic diseases are characterized by a reduced (β) or absent (β) synthesis of the globin chains of hemoglobin (Hb) due to genetic mutations. β-thalassemia was more frequent in the Mediterranean area, but now it is diffused worldwide. Three possible genetic forms can be distinguished: β/β, the most severe (Cooley's disease); β/β of intermediate severity; β/β associated with β-thalassemia intermedia or minor.
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We evaluated the impact of the genotype on clinical and hematochemical features, hepatic and cardiac iron levels, and endocrine, hepatic, and cardiovascular complications in non-transfusion-dependent (NTD) β-thalassemia intermedia (TI) patients. Sixty patients (39.09 ± 11.
View Article and Find Full Text PDFGeneration of human induced pluripotent stem cell line (MUi033-A) from a male with homozygous for Hemoglobin E.
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Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom, Thailand. Electronic address:
Hemoglobin E (HbE), a common variant in Southeast Asian populations, results from a G to A substitution at codon 26 of the HBB gene, causing abnormal Hb and mild β-thalassemia-like symptoms. Here, we derived an induced pluripotent stem cell (iPSC) line, named MUi033-A, from a male homozygous for HbE. The iPSC line demonstrates a normal karyotype and embryonic stem cell-like properties including pluripotency gene expression, and tri-lineage differentiation potential.
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