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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 ...
3–5% (lifetime prevalence) [ 4] Generalized anxiety disorder ( GAD) is a mental and behavioral disorder, [ 5] specifically an anxiety disorder characterized by excessive, uncontrollable and often irrational worry about events or activities. [ 6] Worry often interferes with daily functioning, and individuals with GAD are often overly concerned ...
Anxiety disorder. Anxiety disorders are a group of mental disorders characterized by significant and uncontrollable feelings of anxiety and fear [ 2] such that a person's social, occupational, and personal functions are significantly impaired. [ 2] Anxiety may cause physical and cognitive symptoms, such as restlessness, irritability, easy ...
ATR-16 syndrome is caused by a deletion of part of chromosome 16, from p13.3 (a band on the short end of the chromosome) to the end of the chromosome. These can either be due to a balanced translocation or a de novo deletion. [1] The genes affected include hemoglobin, alpha 1 (HBA1) and hemoglobin, alpha 2 (HBA2). [2]
Hemoglobin E ( HbE) is an abnormal hemoglobin with a single point mutation in the β chain. At position 26 there is a change in the amino acid, from glutamic acid to lysine (E26K). Hemoglobin E is very common among people of Southeast Asian, Northeast Indian, Sri Lankan and Bangladeshi descent. [ 1][ 2]