Hb Electrophoresis- HPLC, EDTA Whole Blood

Hb Electrophoresis is useful to screen and diagnose hemoglobinopathies (hemoglobin abnormalities). Thalassemias and other hemoglobinopathies are a group of genetic disorders which result from mutation or deletion of one of the globin genes of hemoglobin. Thalassemias are due to the defective or absent production of one or more of the globin chains. Deficient a chain production lead to a thalassemia and decrease in ¯ globin production causes ¯ thalassemia. The hemoglobinopathies are structurally abnormal hemoglobins which occur due to an alteration in the amino acid sequence of the globin chains. These hereditary hemoglobinopathies are the most frequent genetic disorders which affect approximately 4.5% of the total world population. Hb Electrophoresis is advised when there are symptoms of unexplained anemia or abnormal results on a complete blood picture (CBP). There are several laboratory methods to evaluate the different types of hemoglobins in a person like Hemoglobin solubility test which is used to screen hemoglobin S, the major hemoglobin in sickle cell disease, Hemoglobin electrophoresis, Hemoglobin isoelectric focusing (Hb IEF) and high performance liquid chromatography (HPLC). Based on the physical and chemical properties of the different hemoglobin molecules, these methods evaluate and diagnose different hemoglobinopathies. Hb Electrophoresis either alone or in combination with the above methods, helps to diagnose various hemoglobinopathies. Detecting the relative amounts of any variant can aid in the diagnosis of a hemoglobinopathy. Hb Electrophoresis is used in combination with a complete blood picture (CBP), blood smear, reticulocyte count, iron studies (serum iron, TIBC, transferrin) or genetic testing to establish a confirmed diagnosis.

1. Why are newborns screened for hemoglobinopathies?

Newborn screening is done to identify congenital disorders including hemoglobinopathies within days of birth, which can be treated or conservatively managed. This avoids or minimizes life-threatening health problems and lifelong disabilities.

2. Do all hemolytic anemia need Hb electrophoresis?

Not necessarily. It depends on the medical and family history as well as results of other laboratory tests.

3. What are the common hemoglobinopathies?

Thalassemia, sickle cell anemia are the most common hemoglobinopathies. Others include haemoglobin C, punjab, iran etc.

4. What is important when Hb electrophoresis is done?

A detailed history which includes age, gender, ethnicity, place of origin, family history, medical history which includes any previous blood transfusions, helps in the diagnosis.