Increased erythrocyte adenosine deaminase activity without haemolytic anaemia

G. Novelli; V. Stocchi; A. Giannotti; M. Magnani; B. Dallapiccola

doi:10.1159/000153597

Increased erythrocyte adenosine deaminase activity without haemolytic anaemia

G. Novelli, V. Stocchi, A. Giannotti, M. Magnani, B. Dallapiccola

Research output: Contribution to journal › Article › peer-review

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	https://doi.org/10.1159/000153597
Publication status	Published - 1986

Keywords

Adenosine deaminase
Adenosine-5'-triphosphate
Haemolytic anaemia

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1159/000153597

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title = "Increased erythrocyte adenosine deaminase activity without haemolytic anaemia",

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.",

keywords = "Adenosine deaminase, Adenosine-5'-triphosphate, Haemolytic anaemia",

author = "G. Novelli and V. Stocchi and A. Giannotti and M. Magnani and B. Dallapiccola",

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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

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Increased erythrocyte adenosine deaminase activity without haemolytic anaemia

Abstract

Keywords

ASJC Scopus subject areas

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