Risultati per thalassemia genetic test

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 thalassemia - diagnosis | nhlbi, nih
Blood and genetic tests Your provider may order the following tests to determine whether you or your child have thalassemia: Complete blood count (CBC) measures the amount of hemoglobin and different types of blood cells (such as red blood cells) in your blood.

 molecular genetics of β-thalassemia: a narrative review : medicine - lww
β-thalassemia is a hereditary hematological disease caused by over 350 mutations in the β-globin gene (HBB). Identifying the genetic variants affecting fetal hemoglobin (HbF) production combined with the α-globin genotype provides some prediction of disease severity for β-thalassemia.

 diagnosis of thalassemia (adults and children) - uptodate
INTRODUCTION. The thalassemias are a group of hemoglobinopathies in which the normal ratio of alpha globin to beta globin production is disrupted due to a genetic variant in one or more alpha or beta globin genes. This abnormal alpha chain to beta chain ratio causes the unpaired chains to precipitate, leading to destruction of red blood cell ...

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 molecular detection of alpha thalassemia: a review of prevalent ...
Molecular genetic testing plays an essential role in the diagnosis of α-thalassemia. Genetic testing conducted during the antenatal period will identify fetuses with ... The main advantage of using Gap-PCR is a quick diagnostic test for α 0 and α + thalassemia. However, this is time-consuming because its conventional method ...

 thalassemia - statpearls - ncbi bookshelf
Thalassemias are a heterogeneous grouping of genetic disorders that result from a decreased synthesis of alpha or beta chains of hemoglobin (Hb). Hemoglobin serves as the oxygen-carrying component of the red blood cells. It consists of two proteins, an alpha, and a beta. If the body does not manufacture enough of one or the other of these two proteins, the red blood cells do not form correctly ...

 the value of single-molecule real-time technology in the ... - nature
To compare single-molecule real-time technology (SMRT) and conventional genetic diagnostic technology of rare types of thalassemia mutations, and to analyze the molecular characteristics and ...

 noninvasive prenatal testing for β-thalassemia by targeted ... - nature
Thirteen families at risk for β-thalassemia were recruited. ... Analysis of rare thalassemia genetic variants based on third ... the test screens for new mutations that inherited in an ...

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