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Co-inheritance of haemoglobin A2' and beta-thalassaemia in cis
P Vermeersch1, M Philippe, W Goossens
1Department of Laboratory Medicine, Hematology, University Hospitals Leuven, Catholic University of Leuven, Leuven, Belgium.
Abstract:
HbA2' is a haematologically silent delta chain variant that elutes in the S-region on high performance liquid chromatography. The major clinical significance of HbA2' is that failure to detect it might lead to failure to recognize beta-thalassaemia minor. Co-inheritance of HbA2' and beta-thalassaemia in cis has been described only once in a family from Suriname. We describe a new case of co-inheritance in cis of HbA2' and beta-thalassaemia in a family from Ghanaian origin with a HbA2' of more than 3%. Molecular investigation revealed the same mutations as in the family from Suriname, suggesting a common origin of both families.
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