Haemoglobin Variants

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Blood transfusions can interfere with haemoglobin variant testing. A patient should wait several months after a transfusion before having testing done. However, in patients with sickle cell disease, the test may be done after a transfusion to determine if enough normal haemoglobin has been given to reduce the risk of damage from sickling of red blood cells.

Since newborn screening programs have started including testing for haemoglobin variants, they have uncovered thousands of children who are carriers. This is due to new technology, not to an increased prevalence of the gene mutations. The health of children is not affected by having single changed gene copies, but the availability of this new information has greatly increased the need for information about haemoglobin variants and their inheritance.

Web Resources
The Sickle Cell Disease Association of America
Sickle Cell Information Center
National Institutes of Health: What is Sickle Cell Anemia?
The Children's Hospital of Oakland, Northern California Comprehensive Thalassemia Center
University of Rochester Medical Center, Division of Genetics Hemoglobinopathies
National Newborn Screening & Genetics Resource Center, Newborn Screening

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