关键词:地中海贫血;HbH 病;突变;家系;基因诊断 Hemoglobin H disease with a rare α-thalassemia gene mutation (--SEA/α*92A>Gα): pedigree analysis and genetic diagnosis YAN Shanhuo1, LAO Kegan1, FU Kepeng1, GONG Feifei1, WEN Xiaojun2, ZHOU Wanjun2 1Qingzhou Maternal and Child Healthcare...
One adult patient having an unknown peak of 15.2% in the 1st minute (RT = 0.39 minutes) was diagnosed as HbH disease [Fig-3c]. A study of haemoglobinopathies and haemoglobin variants using high performance liquid chromatography (HPLC) in a teaching hospital of Odisha The subject with the -...
Objectives: To determine the molecular basis in a Greek child suspected of having HbH disease and β-thalassemia trait.Methods: Standard hematology, Hb electrophoresis, and HPLC. Multiplex ligation-dependent probe amplification (MLPA), direct sequencing, and breakpoint characterization by NimbleGen fine...
Conclusions: HbJ Bangkok, HbE, HbG Taipei Hb, and α-thalassemia HbH disease cause varying degrees of interference with the analysis of HbA1c using IE-HPLC. In these patients, we suggest using methods free from such interference for the analysis of HbA1c and other indicators to monitor blood ...
globin-HA and (iii) transduce the 10xHis-XaSITE-TAT-α-globin-HA deliberately in vitro, into K-562 proerythroid cells and ex vivo, into RBCs derived from HBH patients, in order to alter the disease’s phenotype, by reducing the formation of the harmful β4-tetramers into patients’ ...