Abstract
We examined the morphological and functional characteristics of erythroblasts derived from marrow erythroid progenitor cells grown in a methylcellulose microculture, which were taken from a female child with rate atypical sideroblastic anaemia (SA) partially responsive to pyridoxine. Colony formation was within the normal range in three successive cultures (median values: 82.25 CFU-E and 16.4 BFU-E derived colonies/6.6×104 cells) compared to growth by normal cells (65-315 CFU-E and 9-40 BFU-E). We evaluated in vitro differentiation by biochemical microassay of a cytosol enzyme involved in the haeme pathway: uroporphyrinogen I synthase (UROS). The UROS values in the erythroid colonies from SA marrow were at the lower end of the normal range (median values: 6.7±0.3 and 14.4±3.8 pmol uroporphyrinogen/h in CFU-E and BFU-E-derived colonies respectively versus 17.4±7.3 and 25±7.2 pmol/h in CFU-E and BFU-E colonies from normal subjects.
Ultrastructural examination of the SA erythroblasts from non-cultured bone marrow or derived from cultured BFU-E revealed the characteristic deposition of iron in mitochondria around the nucleus of most cells (ringed sideroblasts). However, the majority of cultured cells had marked dyserythropoietic featuress, with a large number of bilobulated or trilobulated crythroblasts, multiple cytoplasmic vacuoles, numerous abnormalities of the nucleus, and excessive membrane material beneath the plasma membrane, all features difficult to observe in non-cultured marrows.
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Abbreviations
- SA:
-
sideroblastic anaemia
- UROS:
-
uroporphyrinogen I synthase
- BFU-E:
-
erythroid burst-forming units
- CFU-E:
-
colony-forming units
- EPO:
-
erythropoietin
- CDA:
-
congenital dyserythropoietic anaemia
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Claustres, M., Vannereau, H., Bellet, H. et al. A paediatric case of sideroblastic anaemia. Eur J Pediatr 145, 422–427 (1986). https://doi.org/10.1007/BF00439253
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DOI: https://doi.org/10.1007/BF00439253