Usefulness of HPLC methodology for the characterization of combinations of the common beta chain variants Hbs S, C, and O-Arab, and the alpha chain variant Hb G-Philadelphia.

We have analyzed the blood samples from seven members of two families that contained mixtures of different hemoglobin types due to the simultaneous presence of different beta chain variants and the alpha chain variant Hb G-Philadelphia. The methods used were isoelectrofocusing and cation exchange high performance liquid chromatography for the separation of the hemoglobin components, and reversed phase high performance liquid chromatography for that of the various alpha and beta chains; the chromatographic procedures also provided quantitative data. Application of these fast and simple high performance liquid chromatographic methods greatly aided in defining the different hemoglobinopathies that were present in these persons, including an additional alpha-thalassemia-2 heterozygosity or homozygosity.

Newborn screening for sickle cell and other hemoglobinopathies: a Canadian pilot study.

We estimated incidence of HbS disease in Quebec. It is approximately 9 cases per 100,000 births (equivalent to the incidence of the hyperphenylalanemias). Accordingly, we performed a voluntary pilot study in 9 self-identified ethnic groups; 3528 families were counselled about the relevance of newborn screening for hemoglobinopathies; and 2779 cord blood samples were collected (participation rate, 78.