Clinical studyIncreased erythrocyte uroporphyrinogen-I-synthetase, δ-aminolevulinic acid dehydratase and protoporphyrin in hemolytic anemias☆
References (23)
- et al.
Studies in lead poisoning. II. Correlation between the ratio of activated to inactivated δ-aminolevulinic acid dehydratase of whole blood and the blood lead level
Biochem Med
(1973) - et al.
Studies in lead poisoning. I. Microanalysis of erythrocyte protoporphyrin levels by spectrofluorometry in the detection of chronic lead intoxication in the subclinical range
Biochem Med
(1973) - et al.
δ-Aminolevulinic acid synthetase and the control of heme and chlorophyll synthesis
- et al.
Detection of intermittent acute porphyria trait in children
Lancet
(1976) - et al.
Intermittent acute porphyria. Demonstration of a genetic defect in porphobilinogen metabolism
N Engl J Med
(1972) - et al.
A microassay for uroporphyrinogen I synthase, one of three abnormal enzyme activities in acute intermittent porphyria, and its application to the study of the genetics of this disease
- et al.
Studies in porphyria. IV. Expression of the gene defect of acute intermittent porphyria in cultured human skin fibroblasts and amniotic cells: prenatal diagnosis of the porphyric trait
J Exp Med
(1975) - et al.
Erythropoietic protoporphyria and lead intoxication. The molecular basis for difference in cutaneous photosensitivity. II. Different binding of erythrocyte protoporphyrin to hemoglobin
J Clin Invest
(1975) - et al.
The Red Cell
Studies on the mechanism of aging of human red blood cells
Ann NY Acad Sci
Cited by (49)
Heme biosynthesis and the porphyrias
2019, Molecular Genetics and MetabolismCitation Excerpt :Painful, nonblistering photosensitivity suggests the diagnosis. A substantial elevation of erythrocyte PPIX is expected, but is not specific, since erythrocyte zinc-PPIX is predominantly increased in conditions such as homozygous porphyrias (other than most cases of CEP), iron deficiency, lead poisoning, anemia of chronic disease, [190] hemolytic conditions, [191] and many other erythrocytic disorders. A unique finding in EPP is increased erythrocyte PPIX with a predominance of free rather than zinc-PPIX.
Acute hepatic porphyrias: Current diagnosis & management
2019, Molecular Genetics and MetabolismCitation Excerpt :This is in part because distinct erythroid-specific and housekeeping isoforms of this enzyme are produced through alternative splicing of two distinct primary mRNA transcripts, such that some AIP mutations can affect the housekeeping (hepatic) but not the erythroid form of the enzyme [27]. Also, the enzyme activity in circulating erythrocytes declines considerably as the cells age in the circulation, and changes in the proportion of younger red cells, which have higher enzyme activity, can substantially affect the results of this assay [28]. Also, enzyme activity may be falsely lower if conditions for processing and shipping samples are not optimal.
In ferrochelatase-deficient protoporphyria patients, ALAS2 expression is enhanced and erythrocytic protoporphyrin concentration correlates with iron availability
2015, Blood Cells, Molecules, and DiseasesCitation Excerpt :In addition, we measured enzymatic activity of hydroxymethylbilane synthase (HMBS, another enzyme of heme biosynthesis) in washed erythrocytes from peripheral blood samples of EPP patients and healthy controls, and as an additional control, in samples from patients with acute intermittent porphyria (AIP) who have approximately half of the HMBS activity. HMBS in erythrocytes is synthesized during their development in the bone marrow only and remains active in youngerythrocytes [2]. An increased proportion of young erythrocytes in the peripheral blood would therefore lead to increased activity of HMBS [2].
Approaches to Treatment and Prevention of Human Porphyrias
2012, The Porphyrin Handbook: Medical Aspects of PorphyrinsA transgenic mouse model expressing exclusively human hemoglobin E: Indications of a mild oxidative stress
2012, Blood Cells, Molecules, and DiseasesCitation Excerpt :ZPP levels are also markers for in vivo events of Hb synthesis and ineffective erythropoiesis. Increased porphyrin levels have been detected in the blood of HbE patients, sickle cell disease patients, even in the absence of lead poisoning and iron deficiency [86–88]. Thal mice, known to exhibit ineffective erythropoiesis due to globin chain imbalance [79], show greatly elevated levels of ZPP compared to the C57 and HbE mice (data not shown).
Study of the genotype-phenotype relationship in four cases of congenital erythropoietic porphyria
2007, Blood Cells, Molecules, and Diseases
- ☆
This study was presented in part at the Annual Meeting of the American Society of Hematology, Boston, Massachusetts, December 6, 1976. It was supported in part by U.S. Public Health Service Grant No. ES 01055 and by American Cancer Society Grant No. 180A.
- ∗
Recipient of Research Career Development Award 1 K04 GM0030-01 from the National Institutes of Health.
- 1
From The Rockefeller University Hospital, and the Department of Medicine, The New York Hospital-Cornell Medical Center, New York, New York.