Advancing the care of β-thalassaemia patients with novel therapies.
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ABSTRACT:
SUBMITTER: Bou-Fakhredin R
PROVIDER: S-EPMC8796844 | biostudies-literature | 2022 Jan
REPOSITORIES: biostudies-literature
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Advancing the care of β-thalassaemia patients with novel therapies.
Bou-Fakhredin Rayan R Motta Irene I Cappellini Maria Domenica MD
Blood transfusion = Trasfusione del sangue 20211021 1
The β-thalassaemias are a group of inherited disorders of haemoglobin synthesis characterised by chronic anaemia of varying severity. Currently available conventional therapies in thalassaemia have many challenges and limitations. A better understanding of the pathology of β-thalassaemia has led to the development of new treatment options, most of which are currently in clinical trials. These could have the potential of reducing red blood cell transfusion burden, raising haemoglobin levels, and ...[more]
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Project description:IntroductionAround 5% of the world's population is expected to have some degree and type of thalassaemia. Beta thalassaemia (BT) occurs due to a deficient production of the beta-globin chain of haemoglobin. Extramedullary haematopoiesis (EMH) is one of the complications of BT, mainly observed in minor/intermedia subtypes. EMH is the production of blood cells outside the marrow as a compensatory response to longstanding hypoxia. Due to chronic transfusions, it is not expected in patients with beta-thalassaemia major (BTM). However, there are increasingly reported cases of EMH in BTM. The incidence of EMH in BTM is thought to be <1%. We aim to pool the available data and provide cumulative evidence on the occurrence of EMH in BTM patients.MethodsThis is a systematic review of case reports, series, and retrospective studies that presented data on the occurrence of EMH in BTM patients. Data were recorded and analyzed in Microsoft Excel 2016 and SPSS 26. The protocol has been registered in PROSPERO: CRD42021242943.ResultsData from 253 cases of EMH in BTM patients were extracted with a mean age of 35.3 years. Mean haemoglobin at presentation with EMH was 8.2 mg/dL. Lower limb weakness was the most common presenting feature (N = 23) (paraspinal EMH). Magnetic resonance imaging (MRI) was the most widely used diagnostic modality (226). Overall, blood transfusion was the commonest reported treatment (30), followed by radiotherapy (20), surgery (15), hydroxyurea (12), steroids (6), and exchange transfusion (2). An outcome was reported in 20% of patients, all recovered, except one who died as a result of nosocomial infection.ConclusionEMH is rare in BTM and can occur in any organ system with varied clinical features. MRI can effectively diagnose EMH, and conservative management has similar results compared to invasive treatments. Larger studies, focussing on outcomes may enhance guidelines on preventive and therapeutic strategies for managing EMH in BTM.KEY MESSAGESExtramedullary haematopoiesis is a rare complication in beta thalassaemia. Although it is more common in non-transfusion dependent thalassaemia, increasingly reported cases suggest a higher prevalence of EMH in TDT than what is known before.There are no clear guidelines on the management of EMH in TDT, with reported patients showing similar outcomes with conservative invasive treatment modalities.More extensive and preferably prospectively designed studies are required focussing on the management of EMH and its outcomes in patients with TDT to formulate evidence-based guidelines.
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