What are unstable hemoglobins?

The unstable hemoglobinopathies are rare inherited hemoglobinopathies in which the solubility of hemoglobin (Hb) is altered, which often leads to Hb precipitates (Heinz bodies), reduced red blood cell (RBC) lifespan, and hemolytic anemia.

What are examples of hemoglobinopathies?

Sickle cell anemia and thalassemia are examples of hemoglobinopathies. ➢ How are hemoglobinopathies inherited? Hemoglobinopathies are inherited as autosomal recessive conditions. Most people have two complete sets of genes, one inherited from each of our parents.

Why is hemoglobin unstable?

The unstable hemoglobin disease result from the presence of a structurally abnormal hemoglobin variant with substitution or deletion of amino acid in the red cell. Characteristic of the unstable hemoglobin disease is the presence of inclusions of precipitated denatured hemoglobin called Heinz bodies in the red cells.

What are the two types of hemoglobinopathies?

Results. 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 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 does hemoglobin S stand for?

Hemoglobin S (Hgb S) is an abnormal type of hemoglobin that you can inherit from your parents. Hgb S causes red blood cells to become stiff and abnormally shaped. Instead of having a normal round, disk shape, these red blood cells become sickle-shaped, or crescent-shaped.

What are the effects of unstable hemoglobinopathies?

The unstable hemoglobinopathies are rare inherited hemoglobinopathies in which the solubility of hemoglobin is altered, often leading to hemoglobin precipitates (Heinz bodies), reduced red blood cell (RBC) lifespan, and hemolytic anemia.

Which is the most unstable haemoglobin in the body?

Consequently, most of the clinically significant unstable haemoglobins involve R globin abnormalities, with haemolytic anaemia presenting in early childhood when HbF has been replaced by HbA as the major haemoglobin of the red cell. The clinical expression of unstable haemoglobin variants is rather variable.

Which is an unstable beta chain of hemoglobin?

Hemoglobin Terre Haute arginine beta 106. A posthumous correction to the original structure of hemoglobin Indianapolis. J Biol Chem 1991; 266:5798. Adams JG 3rd, Boxer LA, Baehner RL, et al. Hemoglobin Indianapolis (beta 112 [G14] arginine). An unstable beta-chain variant producing the phenotype of severe beta-thalassemia.

When to test for unstable hemoglobinopathies ( HB )?

Testing for unstable hemoglobinopathies is useful in cases of unexplained hemolytic anemia or when there is a known familial pathogenic Hb variant. The first step in the evaluation of a suspected unstable hemoglobinopathy is a CBC with peripheral smear and reticulocyte count.

What are unstable hemoglobins? The unstable hemoglobinopathies are rare inherited hemoglobinopathies in which the solubility of hemoglobin (Hb) is altered, which often leads to Hb precipitates (Heinz bodies), reduced red blood cell (RBC) lifespan, and hemolytic anemia. What are examples of hemoglobinopathies? Sickle cell anemia and thalassemia are examples of hemoglobinopathies. ➢ How are hemoglobinopathies…