title: A new deletion defect leading to alpha-thalassaemia in a large Dutch Caucasian family.
abstract: alpha-thalassaemia is a common inherited haemoglobin disorder that can cause only mild symptoms in carriers and is often either not diagnosed or mistaken for iron deficiency anaemia in the Netherlands. Although considered rare in North-Europeans, we also regularly observe common and rare defects in this population. It is important to be alert for the mild symptoms of these carriers because compound heterozygous and homozygous combinations can result in intermediate, severe or fatal disease in the progeny of healthy carriers. Using a new technical application, a novel alpha degrees -thalassaemia deletion was recently detected in our laboratories in a propositus of a large Dutch Caucasian family. We report the phenotypic and molecular study of this new form of alpha(o)-thalassaemia (called--(OH)alpha-thalassaemia deletion), which was observed in 10 of the 19 individuals studied in the index family. Our results indicate that the frequency of these unsuspected alpha(o)-thalassaemia defects is probably underestimated in the Netherlands.
authors: Department of Paediatrics, Groene Hart Hospital, Gouda, The Netherlands.
authors: J E
authors: JE
authors: Nooitgedagt
authors: C L
authors: CL
authors: Harteveld
authors: J S
authors: JS
authors: Starreveld
authors: F G A
authors: FG
authors: Versteegh
authors: P C
authors: PC
authors: Giordano
mesh_terms: D002648:Child; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006580:Genetic Carrier Screening / Q000379:methods; D005914:Globins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D009426:Netherlands; D010375:Pedigree; D010641:Phenotype; D044465:White People / Q000235:genetics; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*
chemical_list: D005914:Globins