[Flowcharts for the diagnosis and the molecular characterization of hemoglobinopathies].
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 have shared their experiences to propose flowcharts for the phenotypical diagnosis and the molecular characterization of the main hereditary Hb pathologies. These flowcharts are applicable to any single patient with an adult erythropïesis (more than two-years-old), that is to say after the fetal to adult (gamma>beta) Hb commutation, when the HbF level is stabilized.
Aguilar-Martinez
Patricia
P
Laboratoire d'hématologie, Hôpital St-Eloi, CHU de Montpellier. p-martinez@chu-montpellier.fr
Badens
Catherine
C
Bonello-Palot
Nathalie
N
Cadet
Estelle
E
Couque
Nathalie
N
Ducrocq
Rolande
R
Elion
Jacques
J
Francina
Alain
A
Joly
Philippe
P
Pissard
Serge
S
Rochette
Jacques
J
D000328:Adult; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005315:Fetal Diseases / Q000235:genetics; D005319:Fetal Hemoglobin / Q000235:genetics; D014644:Genetic Variation; D005838:Genotype; D006441:Hemoglobin A / Q000235:genetics; D006451:Hemoglobin, Sickle / Q000235:genetics; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000235:genetics*; D006454:Hemoglobins / Q000235:genetics / Q000302:isolation & purification; D006801:Humans; D010641:Phenotype; D012016:Reference Values; D017085:alpha-Thalassemia / Q000175:diagnosis
D006451:Hemoglobin, Sickle; D006454:Hemoglobins; D006441:Hemoglobin A; D005319:Fetal Hemoglobin