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[alpha-thalassemia accompanied with Gilbert's syndrome]
1Third Department of Internal Medicine, Gunma University, School of Medicine.
[Rinsho Ketsueki] the Japanese Journal of Clinical Hematology
|October 31, 1998
Summary
This study identifies a rare co-occurrence of alpha-thalassemia trait and Gilbert's syndrome in a young patient. The findings suggest hyperbilirubinemia resulted from reduced bilirubin clearance, not red blood cell destruction.
Area of Science:
- Hematology
- Genetics
- Hepatology
Background:
- Microcytic hypochromic erythrocytosis and hyperbilirubinemia can present with overlapping symptoms.
- Alpha-thalassemia trait and Gilbert's syndrome are distinct genetic conditions affecting red blood cells and bilirubin metabolism, respectively.
Observation:
- A 15-year-old male presented with microcytic hypochromic erythrocytosis, elevated indirect bilirubin, and decreased erythrocyte osmotic fragility.
- Family history revealed similar hematological findings in the mother and sister.
- Genetic analysis confirmed alpha-thalassemia trait and identified a mutation in the bilirubin-UDP-glucuronosyltransferase 1 (B-UGT 1) gene, indicative of Gilbert's syndrome.
Findings:
- The patient exhibited laboratory findings consistent with both alpha-thalassemia trait and Gilbert's syndrome.
- PCR analysis confirmed the alpha-thalassemia trait in the patient and his family members.
- The presence of a B-UGT 1 gene mutation and fasting test results supported the diagnosis of Gilbert's syndrome.
Implications:
- This case highlights the rare simultaneous occurrence of alpha-thalassemia trait and Gilbert's syndrome.
- The study concludes that hyperbilirubinemia in this patient was primarily due to decreased bilirubin clearance, a characteristic of Gilbert's syndrome.
- The findings are particularly noteworthy in Japan due to the low incidence of thalassemia in the region.