Clinical and haematological evaluation of beta thalassaemia intermedia characterised by unusually low Hb F and increased Hb A2: beta thalassaemia intermedia II

A Gurgey, S Kayin, E Kansu, C Altay
1985 Journal of Medical Genetics  
A total of 15 patients from different families with thalassaemia intermedia was studied. Haematological studies showed that the fetal haemoglobin was only slightly raised, being between 2 and 11 5% of the total haemoglobin. Haemoglobin A2 was high in all cases. The family study indicated that homozygosity or compound heterozygosity for ,B thalassaemia was present in five patients, while dominant inheritance was observed in three. In seven patients family studies were not sufficient to predict
more » ... e genotype. Haematological findings in the parents of the homozygous patients were as severe as those seen in common Hb A2 13 thalassaemia traits. The decrease in MCH and MCV was more severe and the Hb A2 higher in homozygous patients than in cases of common a thalassaemia major (p<OO1, p<O-O1, and p<O-001 respectively). The imbalance in in vitro globin synthesis was more severe in classical thalassaemia major than in homozygous patients in this study (p<O0O1). However, the imbalance in a/non-a synthetic ratios showed variation among the homozygous and heterozygous patients in this study (2.1 to 4.0). Haematological severity and Hb F value showed some slight variation among affected ersons of on 27 April 2019 by guest. Protected by copyright.
doi:10.1136/jmg.22.3.213 fatcat:jb22b5n5cnenvbajinkoeqqycy