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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]
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 ]
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 ...
Thalassemia subtypes of clinical significance are alpha thalassemia and beta thalassemia. A third subtype, delta thalassemia, affects production of HBA2 and is generally asymptomatic. [26] The severity of alpha thalassemia depends on how many of the four genes that code for alpha globin are faulty.
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]
Alpha-thalassemia (α-thalassemia) is defined by a lack of α-globin chain production in hemoglobin, and those who carry a mutation impacting the α-globin chain on only one chromosome are considered to have a “silent” α-thalassemia whereas, if the mutation is on both then it is considered an α-thalassemia trait.
Carrier testing can help guide the decisions of couples who are at high risk, e.g.: Both of Jewish descent – Several disorders including Tay–Sachs disease. The organization Dor Yeshorim offers testing in many countries. [citation needed] Both Cypriot – Thalassemia. Testing is fully subsidized and mandated in both jurisdictions on Cyprus.
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