نتایج جستجو برای: hemoglobinopathy
تعداد نتایج: 519 فیلتر نتایج به سال:
The relevance of this case lies in the extensive diagnostic workup that can be avoided with proper laboratory evaluation of relatively unsophisticated tests.
BACKGROUND In patients with sickle cell trait or disease, reduced life expectancy and a tendency for complications are believed to negatively affect likelihood of survival after open heart surgery. The aim of this study was to review retrospectively the perioperative results of patients undergoing cardiac surgery at our institution. METHODS AND RESULTS Between January 1995 and December 2006, ...
We report a case of a pregnant woman with a complex hemoglobinopathy who developed a symptomatic anemia at 28 weeks of gestation and was treated with multiple transfusions of type-specific packed red blood cells. Shortly thereafter, she developed a fever and joint pains, along with laboratory values consistent with hemolysis. Timing suggested a delayed transfusion reaction. An extensive evaluat...
The presence of hypersplenism and or respond to intravenous particulate functional asplenia occurring concomiantigen, retains the splenic reservoir tantly in a child with sickle cell anemia function to pool platelets. This reserprompted a study of the splenic platevoir function is lost in the older patient let reservoir in this hemoglobinopathy. in whom the spleen has become autoThe young child...
A high-quality hemoglobinopathy diagnosis is based on the results of a number of tests including assays for molecular identification of causative mutations. We describe the current diagnostic strategy for the identification of β-thalassemias and hemoglobin (Hb) variants at the International Reference Laboratory for Haemoglobinopathies, Research Centre for Genetic Engineering and Biotechnology (...
The strategy for screening of thalassemia and Hb E by a combination of osmotic fragility (OF) test and dichlorophenol indophenol precipitation (DCIP) test was validated with 436 unrelated Thai subjects. Hemoglobin (Hb) typing, Hb A2 quantitation, PCR and DNA sequence analysis were used as confirmatory methods for diagnosis of thalassemia and hemoglobinopathy. The sensitivity and specificity of ...
A 67-year-old womanwith pulmonary embolism was suspected to have /J-thalassemia based on microcytosis, hemolysis and a negative red cell stability test. The DNAsequencing analysis of /3-globin gene, however, revealed the deletion of three nucleotides within codon 127-128, leading to substitution of glutamine and alanine residues at 127 and 128 by proline, namely Hb Gunma. This mutant is charact...
Extramedullary hematopoiesis (EMH) represents tumor-like proliferation of hemopoietic tissue which complicates chronic hemoglobinopathy. Intracranial EMH is an extremely rare occurrence. Magnetic resonance imaging (MRI) offers a precise diagnosis. It is essential to distinguish EMH from other extradural central nervous system tumors, because treatment and prognosis are totally different. Herein...
Renal medullary carcinoma (RMC) is a rare, highly aggressive tumor recognized as an independent pathological entity. African-descent adolescents and young adults with sickle cell hemoglobinopathy are the most affected groups. This rare subtype of renal cell carcinoma has its own morphogenetic and pathological characteristics. The major clinical manifestations include gross hematuria, abdominal ...
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