1. Jaundice and alpha gene triplication in beta-thalassemia: Association or causation?
- Author
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Inusha Panigrahi, Renu Saxena, Manoranjan Mahapatra, Prakash Choudhry Ved, Guresh Kumar, and Rajat Kumar
- Subjects
Adult ,Male ,Anemia, Hemolytic ,congenital, hereditary, and neonatal diseases and abnormalities ,Adolescent ,Genotype ,India ,Biology ,hemic and lymphatic diseases ,medicine ,Humans ,Hemoglobin A2 ,Child ,Alpha globulin ,Gene ,Fetal Hemoglobin ,Genetics ,beta-Thalassemia ,Alpha Gene ,Gene Amplification ,Thalassaemia intermedia ,Beta thalassemia ,Hematology ,Jaundice ,medicine.disease ,Phenotype ,Globins ,Molecular analysis ,Female ,medicine.symptom - Abstract
There are few studies investigating alpha globin gene triplications in beta-thalassemia in Asian Indians and its effect on phenotype, which was the primary aim of this study. Gap-PCR was performed in order to detect common alpha thalassemia determinants (-alpha(3.7), -alpha(4.2) and alpha alpha alpha(anti 3.7) triplication). Alpha-triplication was detected in 15.4% (10/65) of patients with thalassemia intermedia, 8.8% (4/45) of those with thalassemia minor and in 2.7% (2/74) of healthy controls. The severity of jaundice was higher in thalassemia intermedia cases with alpha-triplication and two of the alpha-triplication cases had a marked increase in serum bilirubin following intercurrent illness. Thus, alpha globin gene triplication is important genetic determinant underlying thalassemia intermedia in North Indians. Patients with alpha-triplication may develop prominent jaundice with marked increase in serum bilirubin following antecedent aggravating factors.
- Published
- 2006
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