Hemoglobin profile and molecular characteristics of the complex interaction of hemoglobin Doi-Saket [α9(A7) asn > lys, HBA2:c.30C > a], a novel α2α1 hybrid globin variant, with hemoglobin E [β26(B8) Glu > lys, HBB:c.79G > A] and deletional α-thalassemia in a Thai family.

Background: An increasing number of α-hemoglobin (Hb) variants is causing various clinical symptoms; therefore, accurate identification of these Hb variants is important.

Objective: This study aimed to describe the molecular and hematological characteristics of novel Hb Doi-Saket that gives rise to a typical α-thalassemia phenotype in carriers with and without other hemoglobinopathies.

Materials And Methods: Biological samples from a proband and his family members were analyzed.

Analysis of Deletional Hb H Diseases in Samples with Hb A-Hb H and Hb A-Hb Bart's on Capillary Electrophoresis.

The capillary electrophoresis (CE) system allows the quantification of Hb Bart's (γ4) and Hb H (β4) that is used for screening of Hb H disease. However, Hb Bart's hydrops fetalis and Hb H are not always codetected in patients with Hb H disease. In this study, 35 samples were analyzed for the α-thalassemia (α-thal) [- - (Southeast Asian) and - - (Thailand)] deletions and the α-thal [-α (rightward) and -α (leftward)] type deletions using real time-polymerase chain reaction (real time-PCR) with SYBR Green1 and high-resolution melting (HRM) analysis and conventional gap-PCR techniques, respectively.