Chronic and severe haemolytic anaemia caused by co-inheritance of beta-thalassaemia and triplicated alpha-globin genes.

摘要

A 25-year-old man presented with chronic haemolytic anaemia. The blood count showed Hb 78 g/1, MCV 91-5 fl, MCH 24-1 pg, WBC 15-6 x 10~9/l, platelets 671 x 10~9/L reticu-locytes 428 x 10~9/l (13-5%) and nucleated red cells 54 x 10~9/l. The blood film showed marked anisocytosis and poikilocytosis, basophilic stippling, fragments, polychromasia and circulating erythroblasts. The blood bilirubin level was persistently elevated: total bilirubin 80-110mumol/1, indirect bilirubin 68-92mumo/1 (normal 1-16 umol/1). The patient had been identified in infancy as having moderate-severe anaemia. He had maintained a Hb of 70-80 g/1 without transfusion. Haemoglobin analysis by using an automated high performance liquid chromatography system showed increased Hb A_2 (5-6%) and Hb F (5-7%). Molecular analysis confirmed the genotype of heterozygosity for IVS-I-5 (G -> C) beta~+ mutation and triplicated a-globin genes (aa/aaa`(anti3-7)).