What is a hemoglobinopathy evaluation?

What is a hemoglobinopathy evaluation?

A hemoglobinopathy evaluation is a group of tests that determines the presence and relative amounts of abnormal forms of hemoglobin in order to screen for and/or diagnose a hemoglobin disorder.

Which laboratory technique is typically used for the screening and initial identification of Haemoglobinopathies?

One of the following techniques may be used for initial screening: high-performance liquid chromatography (HPLC), thin-layer isoelectric focusing (IEF), or capillary electrophoresis (CE).

How long does a Hemoglobinopathy test take?

A hemoglobinopathy fractionation blood test diagnoses thalassemias and hemoglobin variants. Preparation: No special preparation required. Test Results: 4-6 days. May take longer based on weather, holiday or lab delays.

What is a qualitative globin chain defect?

Qualitative defects caused by the normal synthesis of an abnormal globin chain, often due to single amino acid substitutions in either the alpha or beta globin chains. A common example is the Glu to Val mutation at position six of the beta globin chain in sickle cell disease.

What is a normal Hb count?

The normal range for hemoglobin is: For men, 13.5 to 17.5 grams per deciliter. For women, 12.0 to 15.5 grams per deciliter.

What is HbA2 level?

HbA2, composing of two α chains and two δ chains, is a minor component of the hemoglobin present in normal adult red blood cells, accounting for about 2.5% of the total hemoglobin in healthy individuals. However, HbA2 level is also elevated in some pregnant women.

What is the first step in the evaluation of hemoglobinopathy?

The first step in the evaluation of a suspected hemoglobinopathy is a CBC 3 with peripheral smear evaluation. Polychromasia, spherocytes, schistocytes, sickle cells, Heinz bodies, or basophilic stippling may be present; however, the lack of any of these findings does not rule out hemoglobinopathies or thalassemias.

What is included in universal newborn screening for hemoglobinopathy?

Universal newborn screening panels include testing for sickle cell anemia, the most common hemoglobinopathy; other hemoglobinopathies may not be identified until later in life. Laboratory testing is also used to diagnose and monitor hemoglobinopathies. 1 Bender MA. Sickle cell disease.

How is haemoglobinopathies treated?

Haemoglobinopathies are complex disorders which although often grouped… Rituximab and eculizumab is recommended to be available as a treatment option through routine commissioning for delayed haemolytic transfusion reactions and hyperhaemolysis in patients with…

Why is the identification of hemoglobinopathies and thalassemias important?

Hemoglobinopathy Evaluation – The detection and proper identification of hemoglobinopathies and thalassemias is an important aspect of the evaluation of patients with anemia, microcytosis and erythrocytosis. Please visit our Clinical Education Center to stay informed on any future publications, webinars, or other education opportunities.