Results. The hemoglobinopathies encompass all genetic diseases of hemoglobin. They fall into two main groups: thalassemia syndromes and structural hemoglobin variants (abnormal hemoglobins).

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).

What does Haemoglobinopathies mean?

Haemoglobinopathies: an overview. 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 are examples of 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.

What are the abnormal hemoglobins?

Any change in the structure of the globin chains results in the occurrence of hemoglobin abnormalities. The common hemoglobin disorders include sickle cell anemia, thalassemia, and hemolytic anemia. Hemoglobin abnormalities is a global issue wherein 7% of the world’s population are carriers of the defective gene.

What is the most common form of 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.

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 does polycythemia vera mean?

Listen to pronunciation. (PAH-lee-sy-THEE-mee-uh VAYR-uh) A disease in which there are too many red blood cells in the bone marrow and blood, causing the blood to thicken. The number of white blood cells and platelets may also increase.

What is the cause 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.

What is another name for hemoglobinopathy?

What are the symptoms of Hemoglobinopathy?

Hemoglobinopathies are inherited conditions that affect the number or shape of the red blood cells in the body….Early signs of a hemoglobinopathy include:

• Sleeping longer or more often.
• Tiredness.
• Shortness of breath.
• Pain or swelling in the hands or feet.
• Cold hands or feet.
• Pale skin.

What are the symptoms of hemoglobinopathies?