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β thalassemia intermedia is caused by a β + /β o or β + /β + genotype. In this form, some hemoglobin A is produced; β thalassemia minor is caused by a β/β o or β/β + genotype. Only one of the two β globin alleles contains a mutation, so β chain production is not terribly compromised and patients may be relatively asymptomatic.
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
Thalassemia [3] (β-thalassemia Minor (i.e. Trait) & Major, and α-thalassemia, only when 3 gene loci defective: (--/-α)) Severe megaloblastic anemia; Hemolytic anemia; Sickle-cell anemia; Pyrimidine 5' nucleotidase deficiency [4] Alcoholism [5] Myelodysplastic syndromes; Sideroblastic anemia [6] Congenital dyserythropoietic anemia [7] Primary ...
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.
Beta thalassemia minor results in a mild microcytic anemia that is often asymptomatic or may cause fatigue and or pale skin. Beta thalassemia major occurs when a person inherits two abnormal alleles. This can be either two β+ alleles, two β0 alleles, or one of each. Beta thalassemia major is a severe medical condition.
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]
Hemoglobin E/β-thalassemia is a severe disease, and it still has no universal cure. However, the mutation is amenable to genome editing at high efficiency in preclinical studies. [ 6 ] It affects more than a million people in the world. [ 7 ]
Anisopoikilocytosis is a medical condition illustrated by a variance in size (anisocytosis) and shape (poikilocytosis) of a red blood cell.The underlying cause can be attributed to various anemias, most often; beta thalassemia major, a form of microcytic anemia. [1]
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