title: Jaundice and alpha gene triplication in beta-thalassemia: association or causation?
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.
authors.affiliation: All India Institute of Medical Sciences, Department of Hematology, Ansari Nagar, New Delhi, 110029, India. inupan@yahoo.com
authors.forename: Inusha
authors.initials: I
authors.lastname: Panigrahi
authors.forename: Manoranjan
authors.initials: M
authors.lastname: Mahapatra
authors.forename: Rajat
authors.initials: R
authors.lastname: Kumar
authors.forename: Guresh
authors.initials: G
authors.lastname: Kumar
authors.forename: Prakash
authors.initials: P
authors.lastname: Choudhry Ved
authors.forename: Renu
authors.initials: R
authors.lastname: Saxena
mesh_terms: D000293:Adolescent; D000328:Adult; D000743:Anemia, Hemolytic / Q000209:etiology; D002648:Child; D005260:Female; D005319:Fetal Hemoglobin / Q000737:chemistry; D005784:Gene Amplification / Q000235:genetics*; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006443:Hemoglobin A2 / Q000737:chemistry; D006801:Humans; D007194:India; D008297:Male; D017086:beta-Thalassemia / Q000208:ethnology / Q000235:genetics*
chemical_list: D005914:Globins; D006443:Hemoglobin A2; D005319:Fetal Hemoglobin