Hemoglobin Le Lamentin in the province of Albacete, Spain: Discovery of 32 cases
| Autor: | Jorge M. Nieto, Rosalina Martínez-López, Cristina Ballesteros Gallar, Carlos Romero Román, Paloma Ropero, Laura Navarro Casado, Fernando A. González, Félix de la Fuente-Gonzalo |
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| Rok vydání: | 2016 |
| Předmět: |
Adult
Male Pediatrics medicine.medical_specialty Heterozygote Hemoglobins Abnormal Clinical Biochemistry Population DNA Mutational Analysis Large population 030204 cardiovascular system & hematology HEMOGLOBIN LE LAMENTIN 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Diabetes Mellitus Medicine Humans 030212 general & internal medicine General hospital education Chromatography High Pressure Liquid Aged Aged 80 and over Glycated Hemoglobin education.field_of_study business.industry General Medicine Middle Aged chemistry Spain Female Hemoglobin Glycated hemoglobin Diabetic patient business |
| Zdroj: | Clinical biochemistry. 50(4-5) |
| ISSN: | 1873-2933 |
| Popis: | Objectives Hemoglobin Le Lamentin (α20(B1)His → Gln) is a ubiquitous variant that has been previously described in a small number of isolated patients. We report the incidental observation of Hb Le Lamentin in a large population from the province of Albacete, in southeastern Spain. Our study investigates possible reasons for the elevated number of carriers of this variant and its implications for the management of diabetes in our region. Design & Methods The subjects are 32 diabetic patients whose hemoglobin displayed an unusual peak while they were being tested for glycated hemoglobin at the laboratory of the University General Hospital of Albacete over a 3-year period. Measurements were made by high performance liquid chromatography using a Variant™ II Turbo Kit-2.0, and subsequently the samples of the 32 patients with anomalous peaks were sent to the Hospital Clinico San Carlos (Madrid, Spain) for molecular characterization of any Hb variants. Results Molecular studies revealed 31 out of 32 patients heterozygous for Le Lamentin, and in one of them, Hb City of Hope was associated with Hb Le Lamentin. The remaining patient was homozygous for the Le Lamentin mutation. Additionally, most patients were native to the northeastern half of the province of Albacete and were unrelated. Conclusions Our study describes the largest finding to date of hemoglobin Le Lamentin in a sample of patients. The fact that our region has been perpetually depopulated, with a population that has remained stable in small localities over the centuries, may have favored the survival of the mutation. Since the presence of this variant underestimates the true value of glycated hemoglobin measured by HPLC, it is necessary to systematically review chromatograms. |
| Databáze: | OpenAIRE |
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