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Quantitative Evaluation of the Mechanisms of the Anaemia in Heterozygous β‐Thalassaemia
Author(s) -
Cazzola M.,
Alessandrino P.,
Barosi G.,
Morandi S.,
Stefanelli M.
Publication year - 1979
Publication title -
scandinavian journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0036-553X
DOI - 10.1111/j.1600-0609.1979.tb02680.x
Subject(s) - erythropoiesis , ineffective erythropoiesis , haemolysis , red cell , medicine , heterozygote advantage , endocrinology , peripheral , thalassemia , anemia , biology , physiology , immunology , genotype , biochemistry , gene
Ferrokinetic studies were carried out in 8 patients with heterozygous β‐thalassaemia with anaemia of varying severity. Effective and ineffective erythropoiesis, mean red cell lifespan and non‐erythroid iron turnover were estimated from the experimental data through a mathematical model of iron kinetics. Erythropoietic activity was markedly increased in all patients, but was variably ineffective (from 10 to 74%). A negative correlation (r = ‐0.855, P < 0.01) was found between the amount of ineffective erythropoiesis and Hb level. Red cell lifespan was variably shortened and there was a negative correlation between the degree of daily peripheral haemolysis and Hb level (r = ‐0.733, P < 0.05). Non‐erythroid iron turnover was increased in most patients. The results provide quantitative measurements of the mechanisms responsible for the wide variation of the Hb level in heterozygous β‐thalassaemia. Ineffective erythropoiesis seems to be the major reason for the anaemia. Peripheral haemolysis contributes to it, especially in the most severely affected patients. The increased non‐erythroid iron turnover may be responsible for the pathology which characterizes heterozygotes in the adult life.