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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;
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]
Beta-thalassemia; Other names: Microcytemia, beta type [1] Beta thalassemia genetics, the picture shows one example of how beta thalassemia is inherited. The beta globin gene is located on chromosome 11. A child inherits two beta globin genes (one from each parent). Specialty: Hematology: Types: Thalassemia minor, intermediate and major [2] Causes
Mentzer index. The Mentzer index, described in 1973 by William C. Mentzer, [ 1] is the MCV divided by the RBC count. It is said to be helpful in differentiating iron deficiency anemia from beta thalassemia trait. [ 2][ 3] The index is calculated from the results of a complete blood count. If the quotient of the mean corpuscular volume (MCV, in ...
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 ...
In vivo (within the blood vessel), the codocyte is a bell-shaped cell. It assumes a "target" configuration only when processed to obtain a blood film. In the film these cells appear thinner than normal, primarily due to their pallor (by which thickness is judged on microscopy). When the cells are flattened out on a smear, the top of the bell is ...
Management of thalassemia. Treatment of the inherited blood disorder thalassemia depends upon the level of severity. For mild forms of the condition, advice and counseling are often all that are necessary. For more severe forms, treatment may consist in blood transfusion; chelation therapy to reverse iron overload, using drugs such as ...
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 ...