title: Molecular pathogenesis and clinical variability of homozygous beta0-thalassemia in populations of Jammu region of J&K state (India).
abstract: This study was undertaken to evaluate the variation in the clinical presentation of homozygous beta0-thalassemia from severe disease to a beta-thalassemia intermedia phenotype and to look for the contribution of associated factors in this variation of clinical course. Type of beta0-thalassemia mutations, associated alpha-thalassemia, and XmnI polymorphism in the gamma globin gene, which are known to affect the clinical course of the disease, were investigated from 15 homozygous beta0-thalassemia patients comprising 11 patients with beta-thalassemia major and 4 patients with beta-thalassemia intermedia. Transfusion dependency and the age at which the patient presented with symptoms were used to assess the degree of clinical severity of these patients. Three different beta0-thalassemia mutations viz. CD 41-42 (-TTCT), CD 8-9 (+G) and 619 bp deletion, were encountered among the 30 beta-thalassemia alleles. It was observed that the type of beta0-thalassemia mutations was not different between the two groups, but co-inheritance of one or more alpha-gene deletions and the presence of the XmnI polymorphism were associated with lesser severity of the disease.
authors.affiliation: Department of Zoology, Human Genetic Research Cum Counselling Center, University of Jammu, Jammu, J&K, 180006, India. suraya9@yahoo.co.uk
authors.forename: Suraya Partap
authors.initials: SP
authors.lastname: Singh
authors.forename: Subash
authors.initials: S
authors.lastname: Gupta
mesh_terms: D017668:Age of Onset; D000483:Alleles; D001797:Blood Protein Electrophoresis; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D015252:Deoxyribonucleases, Type II Site-Specific; D004587:Electrophoresis, Agar Gel; D004843:Epistasis, Genetic; D005260:Female; D016368:Frameshift Mutation; D005914:Globins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D006971:Hypersplenism / Q000453:epidemiology / Q000209:etiology; D007194:India / Q000453:epidemiology; D007223:Infant; D008297:Male; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011401:Promoter Regions, Genetic; D017384:Sequence Deletion; D013156:Splenectomy; D013163:Splenomegaly / Q000453:epidemiology / Q000209:etiology; D017085:alpha-Thalassemia / Q000453:epidemiology / Q000235:genetics; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics* / Q000601:surgery
chemical_list: D005914:Globins; C028649:endodeoxyribonuclease XmnI; D015252:Deoxyribonucleases, Type II Site-Specific