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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.
Patients with beta thalassemia minor are usually asymptomatic and are often monitored without treatment. [8] Beta thalassemia minor may coexist with other conditions such as chronic hepatitis B , chronic hepatitis C , non-alcoholic fatty liver disease and alcoholic liver disease that, when combined or co-existing, may cause a person to have ...
Patients with thalassemia gradually accumulate high levels of iron (Fe) in their bodies. This build-up of iron may be due to the disease itself, from irregular hemoglobin not properly incorporating adequate iron into its structure, or it may be due to the many blood transfusions received by the patient.
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]
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 fL) divided by the ...
Sickle cell beta thalassemia. Other names. Sickle cell-β thalassemia. Specialty. Hematology. Sickle cell-beta thalassemia is an inherited blood disorder. The disease may range in severity from being relatively benign and like sickle cell trait to being similar to sickle cell disease. [1][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 ...
Hemoglobin A2. Hemoglobin A2 (HbA2) is a normal variant of hemoglobin A that consists of two alpha and two delta chains (α 2 δ 2) and is found at low levels in normal human blood. Hemoglobin A2 may be increased in beta thalassemia or in people who are heterozygous for the beta thalassemia gene.
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