Article
An Unusual Compound Heterozygosity for Hb O-Arab (HBB: c.364G>A) and Hb D-Los Angeles (HBB: c.364G>C).
Hemoglobin - 1 Jan 2020
van Gammeren Adriaan J, Pelkmans Leonie, Endschot Corné C W van, Roelofsen-de Beer Roseri J A C, Harteveld Cornelis L
Abstract excerpt
We report a newborn with a compound heterozygosity for Hb O-Arab (HBB: 364G>A) and Hb D-Los Angeles (HBB: 364G>C). To the best of our knowledge, the combination of these two hemoglobin (Hb) variants has not been identified and reported before. The variants of the proband and parents were identified by high-performance liquid chromatography (HPLC) and capillary electrophoresis (CE). DNA analysis was performed to...
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