CHRONIC HEMOLYTIC ANEMIA ASSOCIATED WITH GLUCOSE 6-PHOSPHATE DEHYDROGENASE (GUADALAJARA)1159 C → T (387 ARG → CYS) DEFICIENCY ASSOCIATED WITH GILBERT SYNDROME IN A TURKISH PATIENT

• Published in: Pediatric hematology and oncology 2002, Vol.19 (1), p.39-44
• Main Authors: Öner, R., Acar, C., Öner, C., Yenicesu, I., Gümrük, F., Gürgey, A., Altay, C.
• Format: Article
• Language: English
• Subjects: Biological and medical sciences; Carbohydrates (enzymatic deficiencies). Glycogenosis; Chronic Hemolytic Anemia; Errors of metabolism; Gastroenterology. Liver. Pancreas. Abdomen; Gilbert Syndrome; Guadalajara; Hyperbilirubinemia; Liver. Biliary tract. Portal circulation. Exocrine pancreas; Medical sciences; Metabolic diseases; Other diseases. Semiology; Tropical medicine
• ISSN: 0888-0018; 1521-0669
• DOI: 10.1080/088800102753356176

The case of an 8-year-old male child with severe kernicterus sequelae is presented in this paper. The child's hemoglobin value varied between 6.0 and 10.8 g/dL and his reticulocyte count ranged between 3.4 and 46.0% during the steady-state condition and hyperhemolytic crisis, respectively. A chronic hemolytic typeof red cell G6PD deficiency was diagnosed. DNA studies indicate that the mutation was G6PD Guadalajara 1159 C &#77 T (387 Arg &#77 Cys) that is situated at the NADP binding site. Additionally, extra nucleotides of (TA) in the A(TA) n TAA motif of the promoter region of the uridine diphosphate-glucuronosyltransferase gene (UGT-1) were found to be homozygous in the patient. The coexistence of Gilbert syndrome with a chronic type of G6PD deficiency was suggested as a cause of neonatal hyperbilirubinemia leading to kernicterus.