Phenotype score to grade the severity of thalassemia intermedia

Indian Journal of Pediatrics

Volumn 70, Issue 6, 2003, Pages 477-481

  Phadke, Shubha R ^a   Agarwal, Savita ^a  

^a SANJAY GANDHI POSTGRADUATE INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Classification; Genotype phenotype correlation; Phenotype score; Thalassemia intermedia

Indexed keywords

HEMOGLOBIN VARIANT;

ALLELE; ARTICLE; BETA THALASSEMIA; BLOOD TRANSFUSION; CHILD; CLASSIFICATION; CLINICAL ARTICLE; CORRELATION FUNCTION; DISEASE SEVERITY; FEMALE; GROWTH RETARDATION; HUMAN; MALE; PHENOTYPE; SCORING SYSTEM; SPLENECTOMY; THALASSEMIA;

EID: 0037929823     PISSN: 00195456     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02723137     Document Type: Article

References (7)

1. 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.
2. 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.
3. Oron V, Filon D, Oppenheim A, Rund D. Severe thalassemia intermedia caused by interaction of homozygocity for alpha-globin gene triplication with heterozygosity for β-thalassemia. Hematology 1994; 86: 377-379.
4. Camaschella C, Mazza U, Roetto, A Gottardi E, Parziale, A, Travi M et 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.
5. Traeger Syndinos J, Kanavakise E, Vreltonu C, Maragoudaki E, Michael T, Metaxotou Mavromati A et al. The triplicated alpha globin gene locus in β-thalassemia heterozygotes: Clinical hematological, biosynthetic and molecular studies. Am J Hematol 1996; 95: 467-471.
6. 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.
7. 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.