[Flowcharts for the diagnosis and the molecular characterization of hemoglobinopathies].

  title={[Flowcharts for the diagnosis and the molecular characterization of hemoglobinopathies].},
  author={Patricia Aguilar-Martinez and C Badens and Nathalie Bonello-Palot and Estelle Cadet and Nathalie Couque and Rolande Ducrocq and Jacques Elion and Alain Francina and Philippe Joly and Serge Pissard and Jacques Rochette},
  journal={Annales de biologie clinique},
  volume={68 4},
The diagnosis of the main hemoglobinopathies (HbS, HbC, HbE, heterozygous beta-thalassemia) is easy for laboratories using Hb electrophoresis and/or cation-exchange high performance liquid chromatography (CE-HPLC) methods. However, the diagnosis of alpha-thalassemias and of rare Hb variants is much more complex. Six French laboratories, forming together the "Pathologie héréditaire de l'érythrocyte" network, routinely practice the molecular diagnosis of hemoglobinopathies. These laboratories… Expand
HbG-Honolulu interferes with some cation-exchange HPLC HbA1c assays
A 62-year-old Chinese woman admitted through the emergency department following complaints of shortness of breath was diagnosed with fluid overload due to missed dialysis and fluid indiscretion, and was genotyped as a heterozygous carrier of HbG-Honolulu, which is prevalent in East Asia and the Indo-Chine region. Expand
A New High Affinity Variant Hb Aurillac (β141Leu→Val)
Hemoglobin (Hb) variant β141(H19)Leu→Val (HBB:c.424C>G), one of the two mutations defining Hb Kochi, was found as an isolated mutation and displayed increased oxygen affinity and was associated with mild erythrocytosis. Expand
Hb Angers: A new α2‐globin variant [α2 (140)(HC2) Tyr → Ser; HBA2: C.422 A>C] with increased oxygen affinity leading to erythrocytosis
A new Hb variant with increased oxygen affinity is described in a patient and his son, both having erythrocytosis, and an uncharacterized heterozygous variant located at the end of exon 3 is found. Expand
Effects of Genotypes and Treatment on Oxygenscan Parameters in Sickle Cell Disease
Oxygen gradient ektacytometry parameters are affected by sickle cell disease (SCD) genotype and treatment, and the difference between steady state and acute complication was variable from one patient to another. Expand
Association between Oxidative Stress, Genetic Factors, and Clinical Severity in Children with Sickle Cell Anemia
Mild hemolysis in children with alpha‐thalassemia may limit oxidative stress and could explain the protective role of alpha‐halassemia in Hemolysis‐related sickle cell complications. Expand
Alpha‐thalassaemia promotes frequent vaso‐occlusive crises in children with sickle cell anaemia through haemorheological changes
The aim of this study was to test the effects of these genetic modifiers on the haemorheological properties and clinical complication of children with SCA. Expand


The significance of the hemoglobin A(2) value in screening for hemoglobinopathies.
Genetic factors both related and unrelated to the beta- and alpha-globin gene clusters, iron metabolism, endocrinological disorders, and some types of anemia, together with intra- and inter-laboratory variations in HbA(2) determination, may cause difficulties in evaluating this measurement in screening programs for hemoglobinopathies. Expand
BCL11A is a major HbF quantitative trait locus in three different populations with beta-hemoglobinopathies.
The data suggest that the functional motifs responsible for modulating F-cells and HbF levels reside within a 3 kb region in the second intron of BCL11A. Expand
Review on screening and analysis techniques for hemoglobin variants and thalassemia.
The different techniques available, ranging from initial screening to extensive analysis, comparing advantages and disadvantages, are reported, and some indirect studies related to thalassemia indication and treatment follow-up are also included. Expand
Hemoglobins with high oxygen affinity leading to erythrocytosis. New variants and new concepts.
This review brings some new insights on erythrocytosis of genetic origin related to problems of oxygen delivery by hemoglobin (Hb). A few molecular mechanisms are individualized among the about 100Expand
Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia
A reliable, single-tube multiplex–polymerase chain reaction (PCR) assay for the 6 most frequently observed determinants of -thalassemia is developed, which allows simple, high throughput genetic screening for these common hematological disorders. Expand
Significance of borderline hemoglobin A2 values in an Italian population with a high prevalence of β-thalassemia
Borderline HbA2 is not a rare event in a population with a high prevalence of β-thalassemia carriers, and data support the necessity to investigate these cases at a molecular level, particularly if the partner is a carrier ofβ-thalassesmia. Expand
Rapid and simultaneous typing of hemoglobin S, hemoglobin C, and seven Mediterranean beta-thalassemia mutations by covalent reverse dot-blot analysis: application to prenatal diagnosis in Sicily.
The implementation of the reverse dot-blot (RDB) hybridization as a rapid nonradioactive method for the identification of the nine most frequent molecular lesions in the beta-globin gene in Sicily is described. Expand
New analytical tools and epidemiological data for the identification of HbA2 borderline subjects in the screening for beta-thalassemia.
A retrospective investigation in two centres with high prevalence of beta-thalassemia concluded that the occurrence of HbA(2) borderline phenotypes is not a rare event and the development of an international reference measurement system based on quantitative peptide mapping has been recently started. Expand
The role of haemoglobin A2 testing in the diagnosis of thalassaemias and related haemoglobinopathies
Comments on the need for accuracy and standardisation are included and a practical flow-chart is presented to summarise the significance of HbA2 estimation in different thalassaemia syndromes and related haemoglobinopathies. Expand
Screening and genetic diagnosis of haemoglobin disorders.
  • J. Old
  • Medicine
  • Blood reviews
  • 2003
Carrier diagnosis involves the accurate measurement of MCH, MCV, Hb A(2) and Hb F values in combination with an understanding of the haematological characteristics of the different types of thalassaemia genes and their interactions. Expand