Co-inheritance of haemoglobin A2' and beta-thalassaemia in cis.
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.
Vermeersch
P
P
Department of Laboratory Medicine, Hematology, University Hospitals Leuven, Catholic University of Leuven, Leuven, Belgium.
Philippe
M
M
Goossens
W
W
D000328:Adult; D044383:Black People; D002675:Child, Preschool; D016368:Frameshift Mutation; D006580:Genetic Carrier Screening; D005869:Ghana / Q000208:ethnology; D005914:Globins / Q000235:genetics; D006443:Hemoglobin A2 / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D017086:beta-Thalassemia / Q000235:genetics*
D005914:Globins; D006443:Hemoglobin A2