Hemoglobin E levels in double heterozygotes of hemoglobin E and SEA-type alpha-thalassemia.

Coinheritance of alpha-thalassemia and hemoglobin E (Hb E) is prevalent in Thailand, where the gene frequencies of thalassemia and hemoglobinopathies are high. Hb E carriers with, concomitant inheritance of alpha-thalassemia 1 are known to have a lower level of Hb E. In this study, we reviewed the Hb E levels in Hb E carriers, who either had or did not have Southeast Asian (SEA)-type alpha-thalassemia, in order to seek a Hb E level that may be used as a predictor for concomitant alpha-thalassemia carrier status. The Hb E levels as measured by microcolumn chromatography in 844 Hb E carriers detected during a prenatal screening program for severe thalassemia at Chiang Mai University Hospital were reviewed. Hb E levels ranged from 12.3-35.0% (23.3 +/- 3.1%) in 751 Hb E carriers without SEA-type alpha-thalassemia and from 11.6-32.0% (17.0 +/- 3.7%) in 93 concomitant Hb E and SEA-type alpha-thalassemia carriers. The difference was significant (p < 0.01). However, the absence of SEA-type alpha-thalassemia could not be predicted by the higher Hb E level alone, as 3% of double heterozygotes demonstrated a level of more than 25%. Our study confirms a lower Hb E level in double heterozygotes with Hb E and SEA-type alpha-thalassemia. Nevertheless, the difference does not provide sufficient discriminatory power for the reliable exclusion of alpha-thalassemia status.

Hematological and molecular characterization of beta-thalassemia/Hb Tak compound heterozygote.

We report a case of beta-thalassemia/Hb Tak compound heterozygote. The 7 year-old Thai boy presented with plethora since birth. Hemoglobin electrophoresis showed a major band between Hb A2 and Hb F and absent Hb A. DNA sequencing study demonstrated an AC insertion at the terminal codon of the beta-globin gene. The clinical feature of polycythemia reflected a high oxygen affinity of Hb Tak.

Psychosocial problems in children with thalassemia and their siblings.

Beta-thalassemia is a chronic illness causing serious symptoms to children and a burden to families. The purpose of this study was to evaluate psychosocial problems in children with thalassemia and their siblings by using a semi-structured interview and the Pediatric Symptom Checklist (PSC). The study sample included 82 children with thalassemia, 20 siblings, and 50 control children without a chronic illness. With children and families demographically controlled, psychosocial problems were significantly more common in children with thalassemia than in those without chronic illness, 28.05 per cent vs 4 per cent (p=0.001), but there was no difference between siblings and the controls, 5 per cent vs 4 per cent (p=0.64). The mean PSC score in children with thalassemia was higher than that in the sibling and control group (18.34 vs 10.95 and 10.28, respectively; p<0.001). These findings suggest an increased risk of psychosocial problems in children with thalassemia that psychosocial intervention may be required to prevent major psychiatric disorders.