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Alpha-thalassemia (α-thalassemia, α-thalassaemia) is an inherited blood disorder and a form of thalassemia. Thalassemias are a group of inherited blood conditions which result in the impaired production of hemoglobin , the molecule that carries oxygen in the blood. [ 4 ]
A newly developed diagnostic test, called Immunochromatography (IC) Strip Tests, uses monoclonal antibodies to detect Hemoglobin Barts in red blood cells' lysate. This diagnostic test is validated for positive and negative predictive values. It is also cheap and easy, making regular screening for alpha-thalassemia a plausible possibility. [9] [10]
Severity of alpha thalassemia # of faulty alleles Types of alpha thalassemia [49] [50] Symptoms 1 Silent carrier No symptoms 2 Alpha thalassemia trait Minor anemia 3 Hemoglobin H disease Mild to moderate anemia; may lead normal life 4 Hemoglobin Bart’s hydrops fetalis Death usually occurs in utero or at birth
There are three purposes of prenatal diagnosis: (1) to enable timely medical or surgical treatment of a condition before or after birth, (2) to give the parents the chance to abort a fetus with the diagnosed condition, and (3) to give parents the chance to prepare psychologically, socially, financially, and medically for a baby with a health problem or disability, or for the likelihood of a ...
Relatively frequent: sickle cell disease, alpha thalassemia and beta thalassemia: Causes: Inherited disease: Diagnostic method: Blood smear, ferritin test, hemoglobin electrophoresis, DNA sequencing: Differential diagnosis: Iron deficiency anemia: Prevention: Genetic counselling of potential parents, termination of pregnancy: Treatment
In addition to identifying a core list of disorders that infants in the United States should be screened for, the ACMG also established a framework for nominating future conditions, and the structure under which those conditions should be considered. Severe combined immune deficiency (SCID) - added in 2009 [3]
Hemoglobin variants can be discovered through examination, routine laboratory testing, or evaluation of patients with severe anemia. [3] In some countries, all newborns are tested for hemoglobinopathies, thalassemias, and HbS. Isoelectric focusing or high-performance liquid chromatography are used to identify structural abnormalities in hemoglobin.
Patients with β-thalassemia trait should be warned that their condition can be misdiagnosed for the common Iron deficiency anemia. They should eschew empirical use of Iron therapy; yet iron deficiency can develop during pregnancy or from chronic bleeding. [3]