Cord blood screening for alpha-thalassemia and hemoglobin variants by isoelectric focusing in northern Thai neonates: correlation with genotypes and hematologic parameters.

We describe the screening of newborns for thalassemia and Hb variants by using isoelectric focusing (IEF) in a population from northern Thailand where hemoglobinopathies are highly prevalent. The report focuses on findings of alpha-thalassemia, Hb E, and other hemoglobin variants, and their correlation with genotypes and hematologic parameters. Two-hundred and seven out of 566 newborns (36.

Anemia and hydrops in a fetus with homozygous hemoglobin constant spring.

Hemoglobin Constant Spring (Hb CS) is an unstable hemoglobin (Hb) variant that results from a nucleotide substitution at the termination codon of the alpha2-globin gene. The compound heterozygosity of alpha-thalassemia and Hb CS (--/alphaCSalpha) results in a Hb H/CS disease which is clinically more severe than deletional Hb H disease. Homozygosity of Hb CS (alphaCSalpha/alphaCSalpha) is generally characterized with mild hemolytic anemia, jaundice, and splenomegaly.