Comparison of haemoglobin H inclusion bodies with embryonic zeta globin in screening for alpha thalassaemia.
OBJECTIVE
To compare the haemoglobin (Hb) H inclusion test with immunocytochemical detection of embryonic zeta chains in screening for alpha thalassaemia.


METHODS
Blood samples from 115 patients with relevant clinical history and hypochromic microcytic indexes were screened using the HbH inclusion test and the Variant Hemoglobin Testing System (BioRad, Hercules, CA, USA).


RESULTS
The HbH inclusion test was positive in 61 of 115 cases, three of whom had HbH disease confirmed by electrophoresis. The remaining 58 had alpha thalassaemia 1. All three HbH cases and 56 of 58 cases of alpha thalassaemia 1 expressed embryonic zeta chains, giving a specificity of 96.7%. Fifty four of 115 cases had a negative HbH inclusion test, of whom 50 had beta thalassaemia trait and three had iron deficiency. No diagnosis was reached for the remaining patient.


CONCLUSIONS
The immunocytochemical test is as sensitive as the HbH inclusion test in screening for alpha thalassaemia. The presence of zeta chains is highly specific for alpha thalassaemia 1 incorporating the (--/SEA) deletion. The specificity and simplicity of the immunocytochemical test make it the test of choice in screening for alpha thalassaemia.
D001483:Base Sequence; D004587:Electrophoresis, Agar Gel; D004912:Erythrocytes / Q000648:ultrastructure*; D005455:Fluorescent Antibody Technique; D005914:Globins / Q000032:analysis*; D006447:Hemoglobin H / Q000032:analysis*; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology*; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D017085:alpha-Thalassemia / Q000097:blood / Q000175:diagnosis* / Q000235:genetics
D005914:Globins; D006447:Hemoglobin H