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Alpha-thalassemia mental retardation syndrome (ATRX), also called alpha-thalassemia X-linked intellectual disability syndrome, nondeletion type or ATR-X syndrome, [ 1] is an X-linked recessive condition associated with a mutation in the ATRX gene. [ 2] Males with this condition tend to be moderately intellectually disabled and have physical ...
β thalassemia major (Mediterranean anemia or Cooley anemia) is caused by a β o /β o genotype. No functional β chains are produced, and thus no hemoglobin A can be assembled. This is the most severe form of β-thalassemia; β thalassemia intermedia is caused by a β + /β o or β + /β + genotype. In this form, some hemoglobin A is produced;
Hemoglobinopathy is the medical term for a group of inherited blood disorders involving the hemoglobin, the protein of red blood cells. [ 1] They are single-gene disorders and, in most cases, they are inherited as autosomal co-dominant traits. [ 2]
Hemoglobin H disease is a genetic disorder resulting in absent or impaired production of the α-globin protein, a normal component of the hemoglobin. The disease occurs when the α-globin gene expression is reduced to less than 30% of the normal expression. [ 2] In a healthy individual there are four copies of the gene which encode the alpha ...
Treatment. Blood transfusion, possible splenectomy [ 1][ 4] Alpha-thalassemia ( α-thalassemia, α-thalassaemia) is a form of thalassemia involving the genes HBA1 [ 5] and HBA2. [ 6] Thalassemias are a group of inherited blood conditions which result in the impaired production of hemoglobin, the molecule that carries oxygen in the blood. [ 7]
Though only definitively diagnosable by genetic sequence testing, including a G band analysis, ATR-16 syndrome may be diagnosed from its constellation of symptoms. It must be distinguished from ATR-X syndrome, a very similar disease caused by a mutation on the X chromosome, and cases of alpha-thalassemia that co-occur with intellectual disabilities with no underlying genetic relationship.
Adult Attention Deficit Hyperactivity Disorder is the persistence of attention deficit hyperactivity disorder (ADHD) into adulthood. It is a neurodevelopmental disorder, meaning impairing symptoms must have been present in childhood, except for when ADHD occurs after traumatic brain injury. [ 1][ 2][ 3] Specifically, multiple symptoms must be ...
The DSM-5 allows for diagnosis of the predominantly inattentive presentations of ADHD (ICD-10 code F90.0) if the individual presents six or more (five for adults) of the following symptoms of inattention for at least six months to a point that is disruptive and inappropriate for developmental level: