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 |
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Keywords
- Adenosine deaminase
- Adenosine-5'-triphosphate
- Haemolytic anaemia
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
Increased erythrocyte adenosine deaminase activity without haemolytic anaemia. / Novelli, G.; Stocchi, V.; Giannotti, A.; Magnani, M.; Dallapiccola, B.
In: Human Heredity, Vol. 36, No. 1, 1986, p. 37-40.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Increased erythrocyte adenosine deaminase activity without haemolytic anaemia
AU - Novelli, G.
AU - Stocchi, V.
AU - Giannotti, A.
AU - Magnani, M.
AU - Dallapiccola, B.
PY - 1986
Y1 - 1986
N2 - 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.
AB - 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.
KW - Adenosine deaminase
KW - Adenosine-5'-triphosphate
KW - Haemolytic anaemia
UR - http://www.scopus.com/inward/record.url?scp=0022655826&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0022655826&partnerID=8YFLogxK
U2 - 10.1159/000153597
DO - 10.1159/000153597
M3 - Article
C2 - 3949358
AN - SCOPUS:0022655826
VL - 36
SP - 37
EP - 40
JO - Human Heredity
JF - Human Heredity
SN - 0001-5652
IS - 1
ER -