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Red blood cells free α‐haemoglobin pool: a biomarker to monitor the β‐thalassemia intermedia variability. The ALPHAPOOL study
Author(s) -
Vasseur Corinne,
DominguesHamdi Elisa,
Ledudal Katia,
Le Corvoisier Philippe,
Barau Caroline,
Ghaleh Bijan,
Rialland Amandine,
Pissard Serge,
Galactéros Frédéric,
BaudinCreuza Véronique
Publication year - 2017
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.14800
Subject(s) - globin , thalassemia , biomarker , red blood cell , red cell , beta thalassemia , intermedia , fetal hemoglobin , medicine , microbiology and biotechnology , andrology , biology , hemoglobin , biochemistry , genetics , fetus , art , performance art , art history , pregnancy
Summary The severity of β‐thalassaemia (β‐thal) intermedia is mainly correlated to the degree of imbalanced α/non α‐globin chain synthesis. The phenotypic diversity of β‐thal depends on this imbalance and reflects all possible combinations of α‐ and β‐globin genotypes, levels of fetal haemoglobin (HbF) and co‐inheritance of other modulating factors. This study aimed to demonstrate the validity of a new surrogate of α/non α‐globin biosynthetic ratio by measuring the soluble α‐Hb pool in lysed red blood cells. Our results confirm that the α‐Hb pool measurement allows a good discrimination between β‐thal intermedia patients, controls and α‐thal patients ( P < 0·003). Receiver operator characteristic analyses revealed an area under the curve of 0·978 for the α‐Hb pool measurement at a threshold of 120 ng free α‐Hb/mg of total Hb/ml of haemolysate (ppm) with a sensitivity and specificity of 86% and 100%, respectively, to discriminate between β‐thal and not β‐thal subjects. Significant correlations were observed between the α‐Hb pool and biological parameters of β‐thal, the most significant association being observed with red cell hexokinase activity. This study indicates that the α‐Hb pool could be a new marker for assistance in diagnostic orientation of β‐thal intermedia patients and may be clinically useful for monitoring the evolution of the disequilibrium of globin synthesis in response to treatments.