Detection of hemoglobin H disease by long molecule sequencing.

Abstract excerpt

BACKGROUND: Hemoglobin H (Hb H) disease is a moderate-to-severe form of α-thalassemia (α-thal), and parts of patients may require intermittent transfusion therapy, especially during intercurrent illness. However, rare Hb H diseases remain undetected using routine methods being outside of the testing scope. In this study, we present an approach to detecting Hb H disease by long molecule sequencing (LMS). METHODS:...

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• alpha-Thalassemia
• Bayes Theorem
• beta-Thalassemia
• Genotype
• Hemoglobin H
• Hemoglobinopathies