Centre for rare disorders of haematopoiesis at the Institute of Haematology and Blood Transfusion

Czech version

Authors: J. Čermák; J. Valka; M. Vostrý; S. Škranc; M. Beličková
Authors‘ workplace: Ústav hematologie a krevní transfuze, Praha
Published in: Transfuze Hematol. dnes,23, 2017, No. Supplementum1, p. 76-85.
Category:

Overview

The Institute of Haematology and Blood Transfusion was designated a Centre for Rare Disorders of Haematopoiesis in 2014. Most of the patients who are currently treated in the centre suffer from rare congenital or acquired disorders of erythropoiesis. This article reviews patients with congenital disorders of hematopoietic stem cells, red blood cell (RBC) membrane defects, enzymopathies and hemoglobinopathies who have been diagnosed and treated in the centre. The centre also follows patients with paroxysmal nocturnal haemoglobinuria. The increasing number of patients with congenital disorders of erythropoiesis is due to greater implementation of diagnostic molecular genetic methods, the prolonged survival of patients as well as increasing migration from regions with a high incidence of congenital RBC disorders. Diagnosis and long term follow up of patients with rare disorders of erythropoiesis are warranted because of the high incidence of tumours and complications resulting from organ iron overload in adulthood. Moreover, diagnosis of heterozygous forms in parents may preclude the birth of a homozygote with a serious form of the disease.

KEY WORDS:
erythropoiesis – rare disorders – stem cells disorders – membrane defects, enzymopathies – hemoglobinopathies – paroxysmal nocturnal haemoglobinuria

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