European Journal of Pediatrics

, Volume 138, Issue 2, pp 130–135 | Cite as

Sideroblastic Anaemia

A review of seven paediatric cases
  • B. C. J. Hamel
  • E. D. A. M. Schretlen
Original Investigations

Abstract

Sideroblastic Anaemias are characterised by a) chronic hypochromic anaemia, b) ringed sideroblasts in the bone marrow, c) an increase in total body iron, d) ineffective erythropoiesis and e) often abnormal concentrations of F.E.P. A classification of Sideroblastic Anaemia is given and the pathophysiology of Sideroblastic Anaemia is discussed. A series of seven paediatric cases with Sideroblastic Anaemia is presented and the results of studies of the iron, vitamin B6 and porphyrin metabolism are discussed. In two cases arguments for an ALA-synthetase deficiency are given. All five males were diagnosed as hereditary X-linked Sideroblastic Anaemia, one female as I.R.S.A. and the other female, who showed the features of the X-linked type, as congenital Sideroblastic Anaemia.

Key words

Sideroblastic Anaemia ALA-synthetase Vitamin B6 metabolism 

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Copyright information

© Springer-Verlag 1982

Authors and Affiliations

  • B. C. J. Hamel
    • 1
  • E. D. A. M. Schretlen
    • 1
  1. 1.Department of PaediatricsSt. Radboud HospitalNijmegenThe Netherlands

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