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[Clinicogenetic studies of a patient with the Corinth type of glucose-6-phosphate dehydrogenase deficiency]
Insights
This study identifies Glucose-6-Phosphate Dehydrogenase (G-6-PD) deficiency, specifically the Corinth variant, in a patient with recurrent hemolytic episodes. The genetic defect was traced through the patient
Area of Science:
- * Hematology
- * Medical Genetics
- * Clinical Diagnostics
Background:
- * Recurrent hemolytic episodes in early childhood often present diagnostic challenges.
- * Glucose-6-Phosphate Dehydrogenase (G-6-PD) deficiency is a common inherited red blood cell disorder.
Observation:
- * A male patient experienced repeated hemolytic episodes with a hemolytic-icteric syndrome.
- * Clinical, biochemical, and genealogical investigations were performed.
- * Family screening identified G-6-PD deficiency in 6 out of 17 relatives.
Findings:
- * The patient was diagnosed with Glucose-6-Phosphate Dehydrogenase (G-6-PD) deficiency.
- * Genetic analysis revealed the G-6-PD Corinth variant.
- * The patient inherited the condition from his mother.
Implications:
- * This case highlights the importance of G-6-PD deficiency diagnosis in unexplained hemolytic conditions.
- * Identification of the G-6-PD Corinth variant provides specific etiological insight.
- * Understanding familial inheritance patterns aids in genetic counseling and management.
Abstract:
A patient with repeated hemolytic episodes since early childhood of undistinguished etiology is described. The patient was three times admitted to hospital--infectious and internal diseases clinics on the occasion of the manifested hemolytic-icteric syndrome. The clinical, biochemical, genealogical and other investigations carried out, confirmed the presence of G-6-PD deficiency. That genetic effect was found in 6 of all 17 subjects, examined of the family. The patient had inherited the genetic defect from his mother. The studies in accordance with WHO programme, revealed that a G-6-PD, type Corinth variant, was concerned. The male-patient, presented by us is of particular interest in a clinical and differentiation diagnostic aspect.