Phenotype score to grade the severity of thalassemia intermedia.
OBJECTIVE
Thalassemia intermedia is an ill-defined group of thalassemia patients with severity in between thalassemia major and asymptomatic carriers. The severity of cases varies greatly. With availability of information about genetic modifiers of beta-thalassemia phenotype, attempts are being made to study genotype phenotype correlation in thalassemia intermedia.


METHODS
The first important step in genotype, phenotype correlation is well-defined phenotypes. Severity of thalassemia intermedia can not be graded only on haemoglobin level and age of presentation. The authors have developed a phenotype scoring system to subclassify thalassemia intermedia patients into 3 groups, viz, mild, moderate and severe.


RESULTS
This phenotype scoring system appears to grade the severity correctly depending on various clinical features like age of presentation, severity of anaemia, growth retardation, bone marrow hyperplasia, need of blood transfusions and splenectomy.


CONCLUSIONS
The classification of thalassemia intermedia will be useful for genotype phenotype correlation, to develop management guidelines for the subgroups and to try new treatment modalities like hydroxyurea, erythropoetin etc.
Phadke
Shubha R
SR
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India. shubha@sgpgi.ac.in
Agarwal
Savita
S
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D015203:Reproducibility of Results; D017086:beta-Thalassemia / Q000145:classification* / Q000175:diagnosis / Q000235:genetics