Low oxygen saturation and severe anemia in compound heterozygous Hb Louisville [β42(CD1)Phe→Leu] and Hb La Desirade [β129(H7)Ala→Val].

Objective: To investigate the cause(s) of a Thai male proband presenting low oxygen saturation by pulse oximetry (SpO) and severe anemia.

Methods: As Hb variant was suspected, Hb typing was determined by high-performance liquid chromatography and capillary electrophoresis, and subsequently Hb variant was identified by DNA sequencing. Complete blood counts were performed using automated blood cell counter and oxygen saturation was measured by pulse oximetry.

Scanning for α-Hemoglobin Variants by High-Resolution Melting Analysis.

Background: Definitive detection of hemoglobin (Hb) variants requires DNA sequencing. High-resolution melting (HRM) analysis of polymerase chain reaction (PCR) amplicons was applied to detect and discriminate among uncommon α-Hb variants found in Thailand.

Methods: Uncommon suspected α-Hb variants observed in Hb typing were identified by sequencing of DNA from whole blood samples.