Startseite Medizin HB Puerta del Sol [HBA1:c.148A>C], HB Valdecilla [HBA2:c.3G>T], HB Gran Vía [HBA2:c.98T>G], HB Macarena [HBA2:c.358C>T] and HB El Retiro [HBA2:c.364_366dupGTG]: description of five new hemoglobinopathies
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HB Puerta del Sol [HBA1:c.148A>C], HB Valdecilla [HBA2:c.3G>T], HB Gran Vía [HBA2:c.98T>G], HB Macarena [HBA2:c.358C>T] and HB El Retiro [HBA2:c.364_366dupGTG]: description of five new hemoglobinopathies

  • Félix de la Fuente-Gonzalo ORCID logo EMAIL logo , Jorge M. Nieto ORCID logo , Diego Velasco , Elena Cela , Germán Pérez , Ana Fernández-Teijeiro , Antonio Escudero , Ana Villegas , Fernando A. González-Fernández und Paloma Ropero
Veröffentlicht/Copyright: 20. Oktober 2015
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Clinical Chemistry and Laboratory Medicine (CCLM)
Aus der Zeitschrift Clinical Chemistry and Laboratory Medicine (CCLM) Band 54 Heft 4

Abstract

Background: Structural hemoglobinopathies do not usually have a clinical impact, but they can interfere with the analytical determination of some parameters, such as the glycated hemoglobin in diabetic patients. Thalassemias represent a serious health problem in areas where their incidence is high. The defects in the post-translational modifications produce hyper-unstable hemoglobin that is not detected by most of electrophoretic or chromatographic methods that are available so far.

Methods: We studied seven patients who belong to six unrelated families. The first two families were studied because they had peak abnormal hemoglobin (Hb) during routine analytical assays. The other four families were studied because they had microcytosis and hypochromia with normal HbA2 and HbF without iron deficiency. HbA2 and F quantification and abnormal Hb separation were performed by chromatographic and electrophoretic methods. The molecular characterization was performed using specific sequencing.

Results: The Hb Puerta del Sol presents electrophoretic mobility and elution in HPLC that is different from HbA and similar to HbS. The electrophoretic and chromatographic profiles of the four other variants are normal and do not show any anomalies, and their identification was only possible with sequencing.

Conclusions: Some variants, such as Hb Valdecilla, Hb Gran Vía, Hb Macarena and Hb El Retiro, have significant clinical impact when they are associated with other forms of α-thalassemia, which could lead to more serious forms of this group of pathologies as for HbH disease. Therefore, it is important to maintain an adequate program for screening these diseases in countries where the prevalence is high to prevent the occurrence of severe forms.

Keywords: anemia; α-thalassemia; capillary electrophoresis; HPLC; sequencing; structural hemoglobinopathy
Corresponding author: Dr. Félix de La Fuente-Gonzalo, Servicio de Hematología, Hospital Clínico San Carlos de Madrid, Profesor Martín Lagos s/n, 28040 Madrid, Spain, Phone: +34-91-330-3321, Fax: +34-91-330-3322, E-mail: .

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Received: 2015-7-8
Accepted: 2015-9-2
Published Online: 2015-10-20
Published in Print: 2016-4-1

©2016 by De Gruyter

Artikel in diesem Heft

  1. Frontmatter
  2. Editorial
  3. Macroprolactin: searching for a needle in a haystack?
  4. Review
  5. Laboratory medicine in the new healthcare environment
  6. Opinion Paper
  7. Developing GRADE outcome-based recommendations about diagnostic tests: a key role in laboratory medicine policies
  8. EFLM Survey
  9. Accreditation process in European countries – an EFLM survey
  10. Genetics and Molecular Diagnostics
  11. HB Puerta del Sol [HBA1:c.148A>C], HB Valdecilla [HBA2:c.3G>T], HB Gran Vía [HBA2:c.98T>G], HB Macarena [HBA2:c.358C>T] and HB El Retiro [HBA2:c.364_366dupGTG]: description of five new hemoglobinopathies
  12. General Clinical Chemistry and Laboratory Medicine
  13. A candidate reference method using ICP-MS for sweat chloride quantification
  14. Quantification of hemoglobin A1c by off-line HPLC separation and liquid chromatography-tandem mass spectrometry: a modification of the IFCC reference measurement procedure
  15. Comparison between B·R·A·H·M·S PCT direct, a new sensitive point-of-care testing device for rapid quantification of procalcitonin in emergency department patients and established reference methods – a prospective multinational trial
  16. Evaluation of a hand-held blood gas analyzer for rapid determination of blood gases, electrolytes and metabolites in intensive care setting
  17. Use of a faecal immunochemical test for haemoglobin can aid in the investigation of patients with lower abdominal symptoms
  18. A possible cause of the variable detectability of macroprolactin by different immunoassay systems
  19. A multicenter comparison of whole blood vitamin B6 assays
  20. Analytical and clinical performance of the new Fujirebio 25-OH vitamin D assay, a comparison with liquid chromatography-tandem mass spectrometry (LC-MS/MS) and three other automated assays
  21. Development and validation of a 2nd tier test for identification of purine nucleoside phosphorylase deficiency patients during expanded newborn screening by liquid chromatography-tandem mass spectrometry
  22. A cross-sectional study of biomarkers of exposure and effect in smokers and moist snuff consumers
  23. Reference Values and Biological Variations
  24. Pediatric reference value distributions and covariate-stratified reference intervals for 29 endocrine and special chemistry biomarkers on the Beckman Coulter Immunoassay Systems: a CALIPER study of healthy community children
  25. Development of reference intervals for serum alkaline phosphatase among adults in Southern China traced to the new IFCC reference measurement procedure
  26. Birth season predicts the values of red blood cell distribution width (RDW) in adulthood
  27. Cardiovascular Diseases
  28. Cardiovascular risk stratification in hemodialysis patients in the era of highly sensitive troponins: should we choose between hs-troponin I and hs-troponin T?
  29. A standardised FACS assay based on native, receptor transfected cells for the clinical diagnosis and monitoring of β1-adrenergic receptor autoantibodies in human heart disease
  30. Infectious Diseases
  31. The diagnostic value of serum fucosylated fetuin A in hepatitis B virus-related liver diseases
  32. Letters to the Editor
  33. Discriminant indices for distinguishing thalassemia and iron deficiency in patients with microcytic anemia
  34. Discriminant indices for distinguishing thalassemia and iron deficiency in patients with microcytic anemia: a reply
  35. STORE (Sample Tracking: Organization, Refrigeration and Expansion): a project in a clinical laboratory perspective
  36. Control materials for immunochromatographic strip used for α-thalassemia screening
  37. Comparison of a 10- vs. 15-min centrifugation time for chemical and immunochemical assays and impact on turnaround time in a hospital laboratory
  38. Pre-analytical phase in cryoglobulin (CRG) detection: an alternative method for sample transport
  39. The efficacy of an internet-based e-learning system using the CellaVision Competency Software for continuing professional development
  40. Clinical examinations after the Fukushima disaster: a case report of Soma General Hospital
  41. Non-fasting plasma glucose concentration in blood donors
  42. Analytical evaluation of a second generation assay for chromogranin A; a dual-site study
  43. UBE3A, c.1347_1348delGA: a mutation in question
https://doi.org/10.1515/cclm-2015-0649
Schlagwörter für diesen Artikel
anemia; α-thalassemia; capillary electrophoresis; HPLC; sequencing; structural hemoglobinopathy

Artikel in diesem Heft

  1. Frontmatter
  2. Editorial
  3. Macroprolactin: searching for a needle in a haystack?
  4. Review
  5. Laboratory medicine in the new healthcare environment
  6. Opinion Paper
  7. Developing GRADE outcome-based recommendations about diagnostic tests: a key role in laboratory medicine policies
  8. EFLM Survey
  9. Accreditation process in European countries – an EFLM survey
  10. Genetics and Molecular Diagnostics
  11. HB Puerta del Sol [HBA1:c.148A>C], HB Valdecilla [HBA2:c.3G>T], HB Gran Vía [HBA2:c.98T>G], HB Macarena [HBA2:c.358C>T] and HB El Retiro [HBA2:c.364_366dupGTG]: description of five new hemoglobinopathies
  12. General Clinical Chemistry and Laboratory Medicine
  13. A candidate reference method using ICP-MS for sweat chloride quantification
  14. Quantification of hemoglobin A1c by off-line HPLC separation and liquid chromatography-tandem mass spectrometry: a modification of the IFCC reference measurement procedure
  15. Comparison between B·R·A·H·M·S PCT direct, a new sensitive point-of-care testing device for rapid quantification of procalcitonin in emergency department patients and established reference methods – a prospective multinational trial
  16. Evaluation of a hand-held blood gas analyzer for rapid determination of blood gases, electrolytes and metabolites in intensive care setting
  17. Use of a faecal immunochemical test for haemoglobin can aid in the investigation of patients with lower abdominal symptoms
  18. A possible cause of the variable detectability of macroprolactin by different immunoassay systems
  19. A multicenter comparison of whole blood vitamin B6 assays
  20. Analytical and clinical performance of the new Fujirebio 25-OH vitamin D assay, a comparison with liquid chromatography-tandem mass spectrometry (LC-MS/MS) and three other automated assays
  21. Development and validation of a 2nd tier test for identification of purine nucleoside phosphorylase deficiency patients during expanded newborn screening by liquid chromatography-tandem mass spectrometry
  22. A cross-sectional study of biomarkers of exposure and effect in smokers and moist snuff consumers
  23. Reference Values and Biological Variations
  24. Pediatric reference value distributions and covariate-stratified reference intervals for 29 endocrine and special chemistry biomarkers on the Beckman Coulter Immunoassay Systems: a CALIPER study of healthy community children
  25. Development of reference intervals for serum alkaline phosphatase among adults in Southern China traced to the new IFCC reference measurement procedure
  26. Birth season predicts the values of red blood cell distribution width (RDW) in adulthood
  27. Cardiovascular Diseases
  28. Cardiovascular risk stratification in hemodialysis patients in the era of highly sensitive troponins: should we choose between hs-troponin I and hs-troponin T?
  29. A standardised FACS assay based on native, receptor transfected cells for the clinical diagnosis and monitoring of β1-adrenergic receptor autoantibodies in human heart disease
  30. Infectious Diseases
  31. The diagnostic value of serum fucosylated fetuin A in hepatitis B virus-related liver diseases
  32. Letters to the Editor
  33. Discriminant indices for distinguishing thalassemia and iron deficiency in patients with microcytic anemia
  34. Discriminant indices for distinguishing thalassemia and iron deficiency in patients with microcytic anemia: a reply
  35. STORE (Sample Tracking: Organization, Refrigeration and Expansion): a project in a clinical laboratory perspective
  36. Control materials for immunochromatographic strip used for α-thalassemia screening
  37. Comparison of a 10- vs. 15-min centrifugation time for chemical and immunochemical assays and impact on turnaround time in a hospital laboratory
  38. Pre-analytical phase in cryoglobulin (CRG) detection: an alternative method for sample transport
  39. The efficacy of an internet-based e-learning system using the CellaVision Competency Software for continuing professional development
  40. Clinical examinations after the Fukushima disaster: a case report of Soma General Hospital
  41. Non-fasting plasma glucose concentration in blood donors
  42. Analytical evaluation of a second generation assay for chromogranin A; a dual-site study
  43. UBE3A, c.1347_1348delGA: a mutation in question
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