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The hemoglobinopathies encompass a heterogeneous group of disorders associated with mutations in both the alpha-globin (HBA) and beta-globin (HBB) genes. Sickling disorders are characterized by structural variants resulting from substitution of one or more amino acids in the globin chains of the hemoglobin molecule, while thalassemias are characterized by the absence or reduction in output of one or more globin chains of the hemoglobin molecule.  

Accurate diagnosis based on identification of different structural hemoglobin variants or thalassemia mutations is therefore essential for optimal management of clinically significant hemoglobin disorders.  In California, newborns are screened for sickle cell disease, HbH disease and beta-thalassemia.  The CHRCO Hemoglobinopathy Laboratory serves as the central reference laboratory for the California State Newborn Screening Program to confirm all positive primary screening results.

Most of the common Hb variants, such as Hb S, Hb C, and Hb E can be identified using a combination of chromatographic and electrophoretic methods.   
Automated cation exchange HPLC (CE-HPLC) is a rapid and sensitive technique for the presumptive identification of many abnormal hemoglobin variants and for quantitation of HbA2 and Hb F. It is the method of choice used by the California state newborn screening program to identify hemoglobin disorders.  Electrophoretic methods, including IEF and more recently, capillary IEF (cIEF), are employed by the CHRCO Hemoglobinopathy Reference Laboratory as part of a panel of complementary techniques to resolve or confirm Hb variants.
Definitive diagnosis of a hemoglobin disorder, particularly thalassemia, may require DNA analysis. The strategy used to identify uncommon Hb variants or thalassemia mutations is to first test a panel of mutations common to the population being screened, with further testing for rare mutations based on clinical suspicion, family history and ethnic background.

Alpha globin genotyping using gap-PCR is used to diagnose the most common deletional forms of alpha thalassemia and distinguish HbH disease from alpha thalassemia trait.  Direct DNA sequencing and other molecular methods such as MLPAare required to diagnose hemoglobinopathies that are suspected by laboratory or clinical findings.   

In addition to the basic tests used for detection of hemoglobin disorders, the CHRCO Hemoglobinopathy Reference Laboratory performs more specialized tests, including tests for unstable hemoglobins(heat denaturation), methemoglobin (spectrometry), oxygen carrying capacity (oxygen dissociation curve), and red cell membrane abnormalities.