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BETA+ THAL IN CIS WITH Hb C
I tweeted the results of a Hb electrophoresis and asked for an explanation (see graphic).
While we do not have sequencing information, the data are most consistent with presence of Hb C and beta+ thal in cis on the same beta gene allele (HBB).
BETA+ THAL IN CIS WITH Hb C
I tweeted the results of a Hb electrophoresis and asked for an explanation (see graphic).
While we do not have sequencing information, the data are most consistent with presence of Hb C and beta+ thal in cis on the same beta gene allele (HBB).
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Kudos to @DrSamelsonJones for coming up with this possibility.
Considerations:
1. Elevated HbA2 = beta thalassemia
2. Hb C lower than expected for Hb C trait, possibly because its expression is being driven by a thalassemic allele
Kudos to @DrSamelsonJones for coming up with this possibility.
Considerations:
1. Elevated HbA2 = beta thalassemia
2. Hb C lower than expected for Hb C trait, possibly because its expression is being driven by a thalassemic allele
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3. Hb A > 50%, which would not occur if one beta allele was C (say mom's), and the other was beta+-thal (dad's).
I cannot find any similar examples in the literature, though there are a couple reports of B+ thal in cis with the sickle gene (e.g., PMID: 2790205).
3. Hb A > 50%, which would not occur if one beta allele was C (say mom's), and the other was beta+-thal (dad's).
I cannot find any similar examples in the literature, though there are a couple reports of B+ thal in cis with the sickle gene (e.g., PMID: 2790205).
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