Is beta thalassemia a hemoglobinopathy?
The hemoglobinopathies encompass all genetic diseases of hemoglobin. They fall into two main groups: thalassemia syndromes and structural hemoglobin variants (abnormal hemoglobins). α- and β-thalassemia are the main types of thalassemia; the main structural hemoglobin variants are HbS, HbE and HbC.
What is the difference between thalassemia and hemoglobinopathy?
Abstract. Hemoglobinopathies are due to changes in the normal amino acid sequence of globin. Thalassemias result from imbalance in the normal coordinated synthesis of the globin subunits that make up the hemoglobin tetramer.
What is beta thalassemia and related hemoglobinopathies?
HBB-related hemoglobinopathies (including beta thalassemia) are a group of conditions that affect the way red blood cells are made. Red blood cells have 2 important building blocks (known as globin) – alpha and beta. The protein in red blood cells that carries oxygen throughout the body is called haemoglobin.
What is hemoglobin fractionation?
The Hemoglobinopathy Evaluation Profile Blood Test, or Hemoglobin Fractionation, aids in the diagnosis of hemoglobinopathy, an inherited blood disorder characterized by the presence of an abnormal form of hemoglobin (known as a variant) or decreased hemoglobin production (known as thalassemia).
Is Alpha thalassemia a hemoglobinopathy?
The main types of thalassemia are alpha-thalassemia and beta thalassemia. The two conditions may overlap because some conditions which cause abnormalities in hemoglobin proteins also affect their production. Some hemoglobin variants do not cause pathology or anemia, and thus are often not classed as hemoglobinopathies.
What is a beta hemoglobinopathy?
Beta hemoglobinopathies are a group of inherited disorders of red blood cells characterized by mild to severe anemia. Individuals with beta hemoglobinopathies have defects in one of the beta-globin chains of hemoglobin,1-4 the oxygen- carrying molecule in the blood.
What is the genotype of beta thalassemia?
Beta thalassemia traits refer to either the β/β+ or the β/β0 genotype. These are clinically mild conditions that result in microcytosis, mild anemia, and an elevated RBC count.
What is a beta Hemoglobinopathy?
What is the most common hemoglobinopathy?
Sickle cell disease, the most common hemoglobinopathy, occurs when at least one HbS variant is present with a second pathogenic beta globin variant; the variants result in abnormal Hb. For more information on pathogenic Hb variants, see the Human Hemoglobin Variants and Thalassemias database.
What is the difference between a hemoglobinopathy and an thalassemia What are the causes of hemoglobinopathies?
They are single-gene disorders and, in most cases, they are inherited as autosomal co-dominant traits. There are two main groups: abnormal structural hemoglobin variants caused by mutations in the hemoglobin genes, and the thalassemias, which are caused by an underproduction of otherwise normal hemoglobin molecules.
Can a beta thalassemia case be reflexed to alpha globin?
Note: If a ferritin is not performed or provided, and if microcytosis is present and no other abnormalities are found (beta thalassemia, a hemoglobin variant that is associated with microcytosis), the case will be reflexed to alpha-globin gene analysis unless otherwise requested not to be performed.
How does hemoglobinopathies and thalassemia affect the body?
Hemoglobinopathies and thalassemias involve problems with hemoglobin, the critical protein in red blood cells (RBC) responsible for transporting oxygen throughout the body. Abnormal hemoglobin, present in sickle cell diseases, or too little hemoglobin, such as may occur in the thalassemias, can cause organ damage and shorten patients’ lifespans.
Is the presence of HB E associated with thalassemia?
The presence of Hb E may be associated with a thalassemic phenotype since the mutated beta chain is synthesized more slowly than normal. Homozygosity, however, is very mild, and most patients are asymptomatic. Homozygotes have a mild anemia with a reduced MCV and an elevated RBC count.
What is the phenotype of beta thalassemia?
Beta thalassemia traits refer to either the β/β+ or the β/β0 genotype. These are clinically mild conditions that result in microcytosis, mild anemia, and an elevated RBC count. The beta thalassemia homozygote or compound heterozygote state results in a more severe phenotype.
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