Haematological changes

Haemoglobin values on presentation range from 2 to 8 g/dL. The red cells show marked hypochromia and variation in shape and size, and many hypochromic macrocytes and misshapen microcytes, some ofwhich are mere fragments of cells (Figure 6.7). There is moderate anisochromia and basophilic stippling. There are always some nucleated red cells in the peripheral blood, after splenectomy they appear in large numbers. There is a slight elevation in the reticulocyte count. The white cell and platelet counts are normal unless there is hypersplenism. The bone marrow shows marked erythroid hyperplasia with a myeloid-erythroid (M/E) ratio of unity or less. Many of the red cell precursors show ragged inclusions after incubation of the marrow with methyl violet; similar inclusions are found in the peripheral blood cells after splenectomy.

The bilirubin level is usually elevated and haptoglobins are absent. The 51Cr-labelled red cell survival is shortened. The serum iron level rises progressively and most transfusion-dependent children have a totally saturated iron-binding capacity. This change is mirrored by a high plasma ferritin level, and liver

Figure 6.7 The peripheral blood appearances in P-thalassaemia (x750).

biopsies show an increase of iron in both the reticuloendothelial and parenchymal cells.

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