Thalassaemia intermedia is a haemoglobinopathy in which, by definition, the patient maintains satisfactory levels of haemoglobin without needing transfusions. Indeed, the condition is also called non-transfusion-dependent thalassaemia. Nevertheless, at some time during the patient’s lifetime, transfusion therapy may become necessary to guarantee a level of haemoglobin adequate for the activities of normal life. Thalassaemia intermedia is most commonly associated with a homozygous or compound heterozygous state for two beta-thalassaemia alleles but the severity of the clinical picture is related to the patient’s genotype and the consequent degree of globin chain imbalance1. The level of foetal haemoglobin (HbF) is usually variably elevated. In addition, patients with thalassaemia intermedia can suffer from an atypical form of pseudoxanthoma elasticum (PXE), a multisystem disorder affecting, among others, the elastic tissues of the arteries and leading to degeneration and calcification of the elastic lamina of the arterial wall2. At the level of the ankle, low haemoglobin concentrations associated with abnormal red cell rheology and increased haemoglobin F cause tissue hypoxia that promotes thinning of the skin and subcutaneous fragility. As a consequence, trophic ulcers are a common finding in adult patients3. We report here the difficult healing of a surgical wound in a patient with thalassaemia intermedia and the beneficial effect obtained with erythroexchange that, decreasing the level of HbF in favour of HbA, improved the oxygen availability in the area and promoted healing.
Thalassaemia intermedia: the role of erythroexchange in the treatment of an indolent wound.
BORGNA, Caterina
2014
Abstract
Thalassaemia intermedia is a haemoglobinopathy in which, by definition, the patient maintains satisfactory levels of haemoglobin without needing transfusions. Indeed, the condition is also called non-transfusion-dependent thalassaemia. Nevertheless, at some time during the patient’s lifetime, transfusion therapy may become necessary to guarantee a level of haemoglobin adequate for the activities of normal life. Thalassaemia intermedia is most commonly associated with a homozygous or compound heterozygous state for two beta-thalassaemia alleles but the severity of the clinical picture is related to the patient’s genotype and the consequent degree of globin chain imbalance1. The level of foetal haemoglobin (HbF) is usually variably elevated. In addition, patients with thalassaemia intermedia can suffer from an atypical form of pseudoxanthoma elasticum (PXE), a multisystem disorder affecting, among others, the elastic tissues of the arteries and leading to degeneration and calcification of the elastic lamina of the arterial wall2. At the level of the ankle, low haemoglobin concentrations associated with abnormal red cell rheology and increased haemoglobin F cause tissue hypoxia that promotes thinning of the skin and subcutaneous fragility. As a consequence, trophic ulcers are a common finding in adult patients3. We report here the difficult healing of a surgical wound in a patient with thalassaemia intermedia and the beneficial effect obtained with erythroexchange that, decreasing the level of HbF in favour of HbA, improved the oxygen availability in the area and promoted healing.I documenti in SFERA sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
