Publication: Identification and key management of non-transfusion-dependent thalassaemia patients: not a rare but potentially under-recognised condition
Issued Date
2014
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eng
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Mahidol University
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BioMed Central
Bibliographic Citation
Orphanet Journal of Rare Diseases. Vol. 9, (2014), 131
Suggested Citation
Vip Viprakasit, Tyan, Paul, Sarayuth Rodmai, Taher, Ali T. Identification and key management of non-transfusion-dependent thalassaemia patients: not a rare but potentially under-recognised condition. Orphanet Journal of Rare Diseases. Vol. 9, (2014), 131. doi:10.1186/s13023-014-0131-7 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/2658
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Title
Identification and key management of non-transfusion-dependent thalassaemia patients: not a rare but potentially under-recognised condition
Author(s)
Abstract
Patients with non-transfusion-dependent thalassaemia (NTDT) have a genetic defect or combination of defects that
affect haemoglobin synthesis, but which is not severe enough to require regular blood transfusions. The carrier
frequency of NTDT is high (up to 80% in some parts of the world) but the prevalence of symptomatic patients
varies with geography and is estimated to be from 1 in 100,000 to 1 in 100. NTDT has a variable presentation that
may include mild to severe anaemia, enlarged spleen and/or liver, skeletal deformities, growth retardation, elevated
serum ferritin and iron overload. The contributing factors to disease progression are ineffective erythropoiesis and
increased haemolysis, which lead to chronic anaemia. The body’s attempts to correct the anaemia result in
constantly activated erythropoiesis, leading to marrow expansion and extramedullary haematopoiesis. Diagnosis of
NTDT is largely clinical but can be confirmed by genetic sequencing. NTDT must be differentiated from other
anaemias including sideroblastic anaemia, paroxysmal nocturnal haemoglobinuria, congenital dyserythropoietic
anaemia, myelodysplastic syndromes and iron-deficiency anaemia. Management of NTDT is based on managing
symptoms, and includes blood transfusions, hydroxyurea treatment, iron chelation and sometimes splenectomy.
Prognosis for well managed patients is good, with most patients living a normal life. Since NTDT is mainly prevalent
in sub-tropical regions, patients who present in other parts of the world, in particular the Northern hemisphere,
might not been correctly recognised and it can be considered a ‘rare’ condition. It is particularly important to
identify and diagnose patients early, thereby preventing complications.