DNA analysis was used to confirm the Hb EE genotype and to differentiate fr
om the possible genotype of Hb E-beta(0)-thalassemia in two Malay patients.
The first patient was a 13-year-old Malay girl, whose parents were availab
le for family studies. The second patient was a 69-year-old Malay woman wit
h no living family members. The presence of Hb E in both propositi was conf
irmed by: (1) its characteristic electrophoretic mobilities on alkaline/aci
d gels; (2) its chromatographic properties on anion/cation exchangers, and
(3) its mildly insoluble properties. However, differential diagnosis of Hb
EE and Hb E-beta(0)-thalassemia was challenging in these two cases. in the
former, this was because of the possible interactions of the parents' pheno
types; i.e,, the mother had a similar phenotype, In the latter, it was due
to the lack of any living family members for family studies. In this commun
ication, we present the protein and DNA analyses, including data on the use
of the restriction enzyme MnI1, for the definitive diagnosis of the Hb EE
genotype in the propositi of these two Malay families. Copyright (C) 2000 S
. Karger AG, Basel.