Co-Existence of Hereditary Pyrimidine 5’-Nucleotidase Deficiency and Heterozygous α-Thalassemia: A Case Presentation
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چکیده
records, she was known to be a carrier of 5PN deficiency. The proposita’s hematological parameters were as follows: Hb: 10.7 g dL—1; Hct: 34%; RBC: 4.35 x 106; MCV: 77 fL; MCH: 24.7 pg; RDW: 16.2%; reticulocytes: 3.97%; ferritin: 30 (normal range=20-81ngr/Ml). Microscopic examination of a stained peripheral blood smear showed severe anisocytosis, microcytosis, and basophilic stippling. Biochemical analysis of hemoglobin using high-performance liquid chromatography (HPLC) showed normal values for hemoglobin A2 (HbA2: 2.4%) and hemoglobin F (HbF: 0.5%). No abnormal hemoglobins were detected.
منابع مشابه
Co-inheritance of α-and β-thalassemia: challenges in prenatal diagnosis of thalassemia
Background: The double heterozygous state of α/β thalassemia may alter the hematological indices and modify the phonotype. In addion, definite characterizaon of co-inheritance of α- and β-thalassemia heterozygous carriers may change the process of genec counseling. Materials and Methods: An Iranian couple with low hematological indices was analyzed for α-globin gene deleons using mulpl...
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