What are the different types of hemoglobinopathies?

What are the different types of hemoglobinopathies?

Types of hemoglobinopathies include the following, with the predominant type of abnormal hemoglobin in parentheses following the disorder.

• sickle cell disease (HbS)
• sickle cell trait (HbAS)
• sickle cell-hemoglobin C (HbSC)
• sickle cell-thalassemia (HbS and HbA)
• thalassemia.
• hemoglobin C disease (HbCC)

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.

What blood disorders are hemoglobinopathies?

Hemoglobinopathy is a group of disorders in which there is abnormal production or structure of the hemoglobin molecule. It is passed down through families (inherited). This group of disorders includes hemoglobin C disease, hemoglobin S-C disease, sickle cell anemia, and thalassemias.

How are hemoglobinopathies diagnosed?

Definite identification of hemoglobinopathies can be achieved by a stepwise algorithmic approach, starting with a detailed clinical history, through hematologic evaluation [complete blood count (CBC)], reticulocyte count, red blood cell (RBC) morphology], protein based analytic methods [Hb electrophoresis or …

What causes haemoglobinopathy?

Haemoglobinopathies are a group of recessively inherited genetic conditions affecting the haemoglobin component of blood. They are caused by a genetic change (mutation) in the haemoglobin [footnote 2] [footnote 3].

What is the treatment for hemoglobinopathies?

Stem-cell transplantation is the preferred treatment for the severe forms of thalassemia. Supportive, rather than curative, treatment consists of periodic blood transfusions for life, combined with iron chelation.

Can hemoglobinopathies be cured?

There is currently no cure for hemoglobinopathies. Children who receive treatment may still experience some of the signs mentioned in Early Signs. It is important to screen for and treat hemoglobinopathies because, if left untreated, babies with a severe form of the condition can die within their first year of life.

What are the causes of hemoglobinopathies?

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.