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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;
Mild thalassemia : patients with thalassemia traits do not require medical or follow-up care after the initial diagnosis is made. [2] Patients with β-thalassemia trait should be warned that their condition can be misdiagnosed for the common Iron deficiency anemia.
Microcytic anaemia; Microcytosis is the presence of red cells that are smaller than normal. Normal adult red cell has a diameter of 7.2 µm. Microcytes are common seen in with hypochromia in iron-deficiency anaemia, thalassaemia trait, congenital sideroblastic anaemia and sometimes in anaemia of chronic diseases.
Beta thalassemia trait (also known as beta thalassemia minor) involves heterozygous inheritance of a beta-thalassemia mutation and patients usually have microcytosis with borderline hypochromic anemia and they are usually asymptomatic or have mild symptoms. [8] Beta thalassemia minor can also present as beta thalassemia silent carriers; those ...
The condition is called alpha thalassemia trait; two α genes permit nearly normal production of red blood cells, but a mild microcytic hypochromic anemia is seen. The disease in this form can be mistaken for iron-deficiency anemia and treated inappropriately with iron. [3] [1] Alpha-thalassemia trait can exist in two forms: [1]
Through this mechanism, there is a mild deficiency in normal β mRNA and production of small amounts of anomalous β mRNA. The reduced synthesis of β chain may cause β-thalassemia . Also, this hemoglobin variant has a weak union between α- and β-globin, causing instability when there is a high amount of oxidant. [ 3 ]
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Heterozygous HbD-thalassemia, which causes the symptoms of thalassemia generally with mild anemia. Heterozygous HbS-D, which gives rise to sickle cell anemia, but generally milder and slower symptoms. Homozygous HbD/HbD, which is the rarest form, but is associated with HbD disease.
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