Hemoglobinopathy Reference Unit
Hemoglobinopathies are inherited disorders of the hemoglobin chain which may result in anemia. There are 2 types: structural hemoglobinopathies and thalassemias.
Hemoglobinopathies are a result of an amino acid substitution which results in a defective hemoglobin. In the Philippines, the most common type is the Hemoglobin E Disease. Thalassemia on the other hand is a decrease in the production of globin chains which may lead to varying degrees of anemia. Alpha and beta thalassemias are seen in our country. A baby may inherit both diseases if one of the parents has thalassemia and the other with hemoglobinopathy.
Why newborn screen for hemoglobinopathies?
Screening is being done to identify the disease early so that we can persuade parents to reconsider having more children if the baby has been diagnosed with the disease. Treatment can be started early especially in those with sickle cell disease or Hb S. There is no cure and treatment is lifetime, so prevention is the best option.
How do we diagnose the disease?
Newborn screening for hemoglobinopathies uses 2 machines: High Performance Liquid Chromatography (HPLC) for the initial screen and Capillary Electrophoresis (CE) for confirmation. Hemoglobinopathies are best diagnosed using at least 2 machines or methods. DNA analysis which is mandatory in most cases may be done at IHG-NIH, UP Manila.
What are the common clinical manifestations of hemoglobinopathies and thalassemias?
There is a wide spectrum of the disease depending on the type of mutation and degree of gene deletion. Traits or heterozygotes are usually asymptomatic or will have slight anemia while the homozygotes or the disease may result in a lifetime transfusion, iron overload or even fetal death in some alpha thalassemias.
How do we treat hemoglobinopathies and thalassemias?
Traits don’t need treatment. Intermedia type may require occasional transfusion as well as iron chelation. Thalassemia major requires frequent red cell transfusion and iron chelation to sustain life.
How much is the cost of confirmatory testing?
Charge of confirmatory testing for hemoglobinopahies is
Php 3,000, under the scope of the EXPANDED NEWBORN SCREENING PROGRAM which is now available in the Philippines.