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: Inusha Panigrahi, Manoranjan Mahapatra, Rajat Kumar, Guresh Kumar, Prakash Choudhry Ved, Renu Saxena
• Journal: Hematology (Amsterdam, Netherlands) (Hematology) Vol. 11 Issue 2 Pg. 109-12 (Apr 2006) ISSN: 1024-5332 [Print] England
• PMID: 16753851 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Globins
• Hemoglobin A2
• Fetal Hemoglobin

Topics

• Adolescent
• Adult
• Anemia, Hemolytic (etiology)
• Child
• Female
• Fetal Hemoglobin (chemistry)
• Gene Amplification (genetics)
• Genotype
• Globins (genetics)
• Hemoglobin A2 (chemistry)
• Humans
• India
• Male
• beta-Thalassemia (ethnology, genetics)