Abstract
A 4-fold increase of red blood cell adenosine deaminase (ADA) activity was found in a patient without haemolytic anaemia, but with mild anisopoikilocytosis. High-performance liquid chromatography showed a 40% reduction of adenosine-5'-triphosphate (ATP) while all the other nucleotides were in normal ranges. The patient's parents (first cousins) and a brother displayed the same enzyme activities as the controls. This observation suggests that mild increases of ADA activity is neither a marker for congenital hypoplastic anaemia as previously reported nor associated with haemolytic anaemia.
| Original language | English |
|---|---|
| Pages (from-to) | 37-40 |
| Number of pages | 4 |
| Journal | Human Heredity |
| Volume | 36 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 1986 |
Keywords
- Adenosine deaminase
- Adenosine-5'-triphosphate
- Haemolytic anaemia
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
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Cite this
Novelli, G., Stocchi, V., Giannotti, A., Magnani, M., & Dallapiccola, B. (1986). Increased erythrocyte adenosine deaminase activity without haemolytic anaemia. Human Heredity, 36(1), 37-40. https://doi.org/10.1159/000153597