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
| Autor: | Fatma Gumruk, Aytemiz Gurgey, C. Öner, Ceren Acar, R. Öner, Cigdem Altay, Idil Yenicesu |
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| Rok vydání: | 2002 |
| Předmět: |
Male
Gilbert Syndrome Hemolytic anemia Anemia Hemolytic medicine.medical_specialty DNA Mutational Analysis Mutation Missense chemistry.chemical_compound Internal medicine Humans Point Mutation Medicine Gilbert Disease Glucose-6-phosphate dehydrogenase Glucuronosyltransferase Child Kernicterus Red Cell business.industry Homozygote Genetic Variation Hematology medicine.disease Uridine Glucosephosphate Dehydrogenase Deficiency Endocrinology Oncology chemistry Chronic Disease Pediatrics Perinatology and Child Health Hemoglobin business |
| Zdroj: | Pediatric Hematology and Oncology. 19:39-44 |
| ISSN: | 1521-0669 0888-0018 |
| DOI: | 10.1080/088800102753356176 |
| Popis: | 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 M T (387 Arg M 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. |
| Databáze: | OpenAIRE |
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