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Hb Penang [β78(EF2)Leu→Pro, HBB: c.236T>C]: a Novel β-Globin Variant
Catherine H-W Hsu1, Jonathan Langdown1, Roderick Lynn1
1a Department of Haematology , Addenbrooke's Hospital , Cambridge , Cambridgeshire , UK.
Hemoglobin
|October 18, 2018
Summary
A novel hemoglobin variant, Hb Penang, was identified in a healthy Southeast Asian woman during prenatal screening. This discovery utilized capillary electrophoresis and further advanced characterization techniques.
Area of Science:
- Hematology
- Genetics
- Molecular Biology
Background:
- Prenatal screening is crucial for identifying genetic blood disorders.
- Hemoglobin variants can arise from mutations in the beta-globin gene (HBB).
Observation:
- A novel beta-globin (HBB) gene variant, HBB: c.236T>C, was detected via capillary electrophoresis (CE) in a 38-year-old asymptomatic female of Southeast Asian descent.
- The variant involves a CTG>CCG substitution at codon 78 of the beta chain.
Findings:
- The novel variant was named Hb Penang, after the proband's Malaysian city of origin.
- Characterization involved high-performance liquid chromatography (HPLC), reversed-phase HPLC, Sanger sequencing, isopropanol stability testing, and isoelectric focusing (IEF).
Implications:
- This finding expands the known spectrum of hemoglobinopathies.
- Early detection through prenatal screening allows for informed reproductive choices and potential future management strategies.
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