What is the basic hemoglobin defect in the Thalassemias?

Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form or inadequate amount of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. The disorder results in large numbers of red blood cells being destroyed, which leads to anemia.

What is hemoglobin Koln?

Hemoglobin Köln is an unstable, high-affinity oxygen carrier that produces a chronic hemolytic condition. The peripheral smear of persons with Hemoglobin Köln trait (1 mutated gene) shows macrocytic hypochromic red blood cells (RBCs), with bite deformities and tear drop cells.

Is sickle cell A haemoglobinopathy?

Sickle cell disease (SCD) is a congenital haemoglobinopathy characterized by a mutation on chromosome 11, resulting in the production of the unstable and relatively insoluble haemoglobin S. Vaso-occlusion and haemolysis are the hallmarks of SCD, resulting in recurrent painful episodes and organ dysfunction.

How many hemoglobinopathies are there?

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. The main structural hemoglobin variants are HbS, HbE and HbC.

What causes hemoglobinopathy?

The term hemoglobinopathy refers to a number of inherited disorders that result from mutations in the globin (alpha, beta, or gamma) genes. These mutations result in either reduced production or altered structure of the hemoglobin (Hb) molecule.

What is unstable hemoglobin?

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 is the difference between a hemoglobinopathy and an thalassemia?

Hemoglobinopathy and thalassemia are genetic disorders caused by aberrant hemoglobin; however, thalassemia is caused by reduced or absent synthesis of globin peptide chains1, while hemoglobinopathy is caused by alteration of the globin peptide chain conformation, which usually does not develop anemia33.

Is thalassemia and sickle cell the same?

While beta thalassemia is caused by a defect in the beta-globin gene, controlling the production of the beta-globin chains of hemoglobin, sickle cell disease is caused by a defect in hemoglobin itself with the presence of abnormal hemoglobin S.

What are the causes of hemoglobinopathies?

How are Haemoglobinopathies diagnosed?

Special haematology tests requested once a haemoglobinopathy is suspected based on family history and/or full blood count. Often these tests are ordered by asking for a “thalassaemia or haemoglobinopathy screen”. Electrophoresis of globin proteins. Different techniques possible from gel or membrane based kits to HPLC.

Can alpha thalassemia marry beta thalassemia?

YES , can get married, if only one partner is carrier there is no problem BUT if both are carrier they should undergo prenatal testing.