Molecular pathogenesis and clinical variability of homozygous beta0-thalassemia in populations of Jammu region of J&K state (India).
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.
Singh
Suraya Partap
SP
Department of Zoology, Human Genetic Research Cum Counselling Center, University of Jammu, Jammu, J&K, 180006, India. suraya9@yahoo.co.uk
Gupta
Subash
S
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
D005914:Globins; C028649:endodeoxyribonuclease XmnI; D015252:Deoxyribonucleases, Type II Site-Specific