We report an Asian Indian family in which two daughters have
Hb Sun Prairie, a known unstable alpha 2-globin variant [
codon 130, GCT-->CCT; alpha 2 130(H13)
Ala-->Pro beta 2]. While the homozygous probands have chronic
hemolysis-the same phenotype as previously reported, the heterozygous parents are asymptomatic with
a thalassemia carrier phenotype, distinct from the chronic hemolytic state previously described in a heterozygote. Unlike the earlier cases in which family studies were not available, this family clearly exhibits autosomal recessive inheritance, unusual amongst variants within the same region of helix H.
Globin chain biosynthesis ratios initially suggested a beta-thalassemic
hemoglobinopathy-this was excluded by normal sequence analysis of both
beta-globin genes. This case report further illustrates the complexity of phenotypes in the thalassemic
hemoglobinopathies. It also demonstrates inversion of the alpha/
beta-globin chain biosynthesis ratio, a phenomenon which had been noted in other
alpha-globin variants and can be a confounding factor in the investigation of thalassemic
hemoglobinopathies.