Phenotype score to grade the severity of thalassemia intermedia
Rent the article at a discountRent now
* Final gross prices may vary according to local VAT.Get Access
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 β-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.Result : 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.Conclusion : 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.
- Oliviery NF, Weatherall DJ. Clinical aspects of β-thalassemia. In Steinberg MH, Forget BG, Higgs DR, Nagel RL, eds.Disorders of Hemoglobin: Genetics, Pathophysiology and Clinical Management. Cambridge University Press; 2001; 303.
- De Castro CM, Devlin B, Fleenor DE, Lee ME, Kaufman RE. A novel beta globin mutation, â Durham NC (? 114 Leu-Pro); produces a dominant thalassemia like phenotype.Blood 1994; 83 (4): 1109–1116.
- Qron V, Filon D, Oppenheim A, Rund D. Severe thalassemia intermedia caused by interaction of homozygocity for alphaglobin gene triplication with heterozygosity for β-thalassemia.Hematology 1994; 86: 377–379.
- Camaschella C, Mazza U, Roetto, A Gottardi E, Parziale, A, Travi Met al. Genetic interactions in thalassemia intermedia Analysis of β-mutations, alpha genotype, gamma promoters and β-LCR hypersensitive sites 2 and 4 in Italian patients.Am J Hematol 1995; 48: 82–87.
- Traeger Syndinos J, Kanavakise E, Vreltonu C, Maragoudaki E, Michael T, Metaxotou Mavromati Aet al. The triplicated alpha globin gene locus in β-thalassemia heterozygotes: Clinical hematological, biosynthetic and molecular studies.Am J Hematol 1996; 95 : 467–471.
- Rund D, Oron-Karni V, Filon D, Golldfarb A, Rachmilewitz E, Oppenheim A. Genetic analysis of β-thalassemia in Israel: Diversity of mechanisms and unpredictability of phenotype.Am J Heamtol 1997; 54: 16–12. CrossRef
- Ho PJ, Hall GW, Luo LY, Weatherall DJ, Thein SL Beta thalassemia intermedia: Is it possible consistently to predict phenotype from genotype.Br Hematol 1998; 100 : 70–78. CrossRef
- Phenotype score to grade the severity of thalassemia intermedia
The Indian Journal of Pediatrics
Volume 70, Issue 6 , pp 477-481
- Cover Date
- Print ISSN
- Online ISSN
- Springer India
- Additional Links
- Thalassemia intermedia
- Phenotype score
- Genotype phenotype correlation
- Industry Sectors