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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 ]
If hemoglobin Barts is detected on a newborn screen, the patient is usually referred for further evaluation since detection of hemoglobin Barts can indicate either one alpha globin gene deletion, making the baby a silent alpha thalassemia carrier, two alpha globin gene deletions (alpha thalassemia), or hemoglobin H disease (three alpha globin ...
Alpha thalassemia is caused by deficient production of the alpha globin component of hemoglobin, while beta thalassemia is a deficiency in the beta globin component. [7] The severity of alpha and beta thalassemia depends on how many of the four genes for alpha globin or two genes for beta globin are faulty. [2]
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.
Hemoglobinopathy is the medical term for a group of inherited blood disorders involving the hemoglobin, the major protein of red blood cells. [1] They are generally single-gene disorders and, in most cases, they are inherited as autosomal recessive traits.
Normal levels range from 2.1-3.2%, but in the beta-thalassemia disorder, the levels increase to 3.5-6.0%. Additionally, individuals with beta-thalassemia exhibit a high red cell count and low hemoglobin levels. [3] Individuals that express lower levels of hemoglobin A2, have the a 0-thalassemia trait or homozygous gene for a +-thalassemia. [2]
Alpha Gene Arrangement Functioning α-genes Inheritance Hgb G, % Clinical Presentation uncomplicated G trait, no thalassemia: αG α/α α: 4: Mediterranean: 20-25: No defect alpha thal 2 with trans G trait: α -/αG – or – α/αG – 2: Mediterranean: 35-45: Microcytic alpha thal 2 trait, G trait: α3.7G/α α: 3: African American: 25-35 ...
It is the most common nondeletional alpha-thalassemia mutation associated with hemoglobin H disease. [1] The quantity of hemoglobin in the cells is low because the messenger RNA is unstable and some is degraded prior to protein synthesis. Another reason is that the Constant Spring alpha chain protein is itself unstable.