What Is Haemoglobinopathy Blood Test?

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 is hemoglobinopathy treated?

Supportive, rather than curative, treatment consists of periodic blood transfusions for life, combined with iron chelation. Drugs to treat the symptoms of sickle-cell disease include analgesics, antibiotics, ACE inhibitors and hydroxyurea. Blood transfusions should be given only when strictly indicated.

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 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.

Is G6PD a hemoglobinopathy?

Congenital causes of hemolysis includes enzymopathy like glucose 6 phosphate dehydrogenase (G6PD) deficiency, several hemoglobinopathy like sickle cell anemia (SCA) and thalassemias.

What are examples of hemoglobinopathies?

Sickle cell anemia and thalassemia are examples of hemoglobinopathies.

What is the difference between a Hemoglobinopathy and a thalassemia?

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.

When should Hemoglobinopathy be checked?

An evaluation is usually ordered when results of a complete blood count (CBC) and/or blood smear suggest that you have an abnormal form of hemoglobin. Testing may be ordered when a healthcare practitioner suspects that your signs and symptoms are the result of abnormal hemoglobin production.

Which of the following blood disorders are hemoglobinopathies?

Thalassemia, Sickle Cell Anemia, and Other Inherited Hemoglobin Disorders. Red blood cells carry hemoglobin, a vital protein that delivers oxygen throughout the body. Disorders that affect hemoglobin are known 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 does high Hemoglobin A2 mean?

Hemoglobin A2 may be increased in beta thalassemia or in people who are heterozygous for the beta thalassemia gene. HbA2 exists in small amounts in all adult humans (1.5-3.1% of all hemoglobin molecules) and is approximately normal in people with sickle-cell disease.

Why is HPLC test done?

HPLC is a sensitive and precise method for the identification of Hb A2, Hb F and abnormal haemoglobins. It has become the method of choice for thalassaemia screening because of its speed and reliability.

What are the 3 types of hemoglobin?

The most common are:

  • Hemoglobin S. This type of hemoglobin is present in sickle cell disease.
  • Hemoglobin C. This type of hemoglobin does not carry oxygen well.
  • Hemoglobin E. This type of hemoglobin is found in people of Southeast Asian descent.
  • Hemoglobin D.

What causes Hemoglobinopathy?

Hemoglobinopathies are caused by mutations in globin genes, which encode for the globin proteins of hemoglobin, causing decreased or defective production of hemoglobin, hemolysis, and anemia .

What does hemoglobin electrophoresis test for?

Hemoglobin electrophoresis measures hemoglobin levels and looks for abnormal types of hemoglobin. It’s most often used to help diagnose anemia, sickle cell disease, and other hemoglobin disorders.

What is Hemoglobinopathy in pregnancy?

Hemoglobinopathies represent a unique set of genetic disorders. Formerly, many affected individuals did not survive to childbearing age. Affected women now commonly reach childbearing age and desire pregnancy. Successful pregnancy is possible in many cases with carefully coordinated obstetric and medical management.

Is hemoglobinopathies a disease?

The hemoglobinopathies are a group of disorders passed down through families (inherited) in which there is abnormal production or structure of the hemoglobin molecule. Sickle cell disease (SCD) is one such blood disorder caused by the abnormal hemoglobin that damages and deforms red blood cells.

What are the 4 types of hemoglobin?

Four different hemoglobin species are commonly recognized: oxyhemoglobin (oxy-Hb), deoxyhemoglobin (deoxy-Hb), methemoglobin (met-Hb), and hemichromes, whose structures appear below.

What does no Hemoglobinopathy mean?

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.

Does G6PD affect HbA1c?

Specifically, the newly identified G202A variant in the glucose-6-phosphate dehydrogenase gene (G6PD), which can shorten red blood cell lifespan, and thus lower HbA1c levels regardless of blood glucose level, is associated with substantial reductions in HbA1c in African Americans.

How is CBC test performed?

For a complete blood count, a member of your health care team takes a sample of blood by inserting a needle into a vein in your arm, usually at the bend in your elbow. The blood sample is sent to a lab for analysis. You can return to your usual activities immediately.

What is a HPLC blood test?

The HPLC blood test expanded as a High Performance Liquid Chromatography test, is performed to screen Thalassemias and Hemoglobinopathies. This test is performed by taking the sample mixture and separating it for further diagnosis in a medical laboratory.