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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 (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. [ 5 ]
Alpha-thalassemia mental retardation syndrome; Other names: ATR-X syndrome: Child of 8 yrs with the characteristic facial features of ATR-X syndrome. Note the upswept frontal hair line, hypertelorism, epicanthic folds, flat nasal bridge, small triangular upturned nose, tented upper lip, everted lower lip and hypotonic facies.
In 2018 an unborn child with hydrops fetalis, a potentially fatal complication of alpha thalassemia, was successfully transfused in utero with her mother's stem cells. [90] HSCT is a dangerous procedure with many possible complications; it is reserved for patients with life-threatening diseases.
Hemoglobinopathy is the medical term for a group of inherited blood disorders involving the hemoglobin, the protein of red blood cells. [1] They are generally single-gene disorders and, in most cases, they are inherited as autosomal recessive traits.
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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.
Inherited mutations of the ATRX gene are associated with an X-linked mental retardation syndrome most often accompanied by alpha-thalassemia syndrome.These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes.