{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T08:08:27Z","timestamp":1765354107827,"version":"build-2065373602"},"reference-count":32,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1979,6]]},"abstract":"<jats:p>Glucose phosphate isomerase (GPI) deficiency with severe haemolysis and hydrops fetalis was found in the first child of unrelated, healthy Caucasian parents. The child died at 3 hours. Both parents were found to have 50% of normal red cell GPI activity and qualitative tests on their red cells and white cells showed that each was heterozygous for a different GPI variant allele associated with enzyme deficiency. Tests on the placenta showed that the propositus was a 'compound' heterozygote. Examination of amniotic cells obtained by amniocentesis on the mother at 28 weeks in her second pregnancy led to the prenatal diagnosis of GPI deficiency. This second child, a 'compound' heterozygote at the GPI locus indistinguishable from the first, was successfully treated by immediate exchange transfusion and subsequent blood transfusions.<\/jats:p>","DOI":"10.1136\/jmg.16.3.189","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"189-196","source":"Crossref","is-referenced-by-count":31,"title":["Congenital haemolytic anaemia resulting from glucose phosphate isomerase deficiency: genetics, clinical picture, and prenatal diagnosis."],"prefix":"10.1136","volume":"16","author":[{"given":"A G","family":"Whitelaw","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P A","family":"Rogers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D A","family":"Hopkinson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Gordon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P M","family":"Emerson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J H","family":"Darley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Reid","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M A","family":"Crawfurd","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1979,6,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1182\/blood.V41.5.691.691","article-title":"Glucose phosphate isomerase deficiency: evidence for in vivo instability of an enzyme variant with hemolysis","volume":"41","author":"Arnold, H.; Blume, K.G.; Engelhardt, R.; Lohr, G.W.","year":"1973","unstructured":"Arnold, H., Blume, K. G., Engelhardt, R., and Lohr, G. W. (1973). Glucose phosphate isomerase deficiency: evidence for in vivo instability of an enzyme variant with hemolysis. Blood, 41, 691-699.","journal-title":"Blood"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1007\/BF00999459","article-title":"Glucose phosphate isomerase deficiency type Liege-new variant with congenital nonspherocytic hemolytic anemia","volume":"35","author":"Arnold, H.; Dodinal-Versie, J.; Lambotte, C.; Lohr, G.W.; Van Der Hofstedt, J.","year":"1977","unstructured":"Arnold, H., Dodinal-Versie, J., Lambotte, C., Lohr, G. W., and Van Der Hofstedt, J. (1977). Glucose phosphate isomerase deficiency type Liege-new variant with congenital nonspherocytic hemolytic anemia. 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Report of the first case found in Japanese","volume":"36","author":"Miwa, S.; Nakashima, K.; Oda, S.; Matsumoto, N.; Ogawa, H.; Fukumoto, Y.","year":"1973","unstructured":"Miwa, S., Nakashima, K., Oda, S., Matsumoto, N., Ogawa, H., and Fukumoto, Y. (1973a). Glucosephosphate isomerase (GPI) deficiency hereditary nonspherocytic hemolytic anemia. Report of the first case found in Japanese. Acta Haematologica Japonica, 36, 65-69.","journal-title":"Acta Haematologica Japonica"},{"key":"ref_20","first-page":"70","article-title":"Glucosephosphate isomerase (GPI) deficiency hereditary nonspherocytic hemolytic anemia. Report of the second case found in Japanese","volume":"36","author":"Miwa, S.; Nakashima, K.; Oda, S.; Matsumoto, N.; Ogawa, H.; Kobayashi, R.; Kotani, M.; Harata, A.; Onaya, T.; Yamada, T.","year":"1973","unstructured":"Miwa, S., Nakashima, K., Oda, S., Matsumoto, N., Ogawa, H., Kobayashi, R., Kotani, M., Harata, A., Onaya, T., and Yamada, T. (1973b). 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American Journal of Human Genetics, 25, 294-301.","journal-title":"American Journal of Human Genetics"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1111\/j.1469-1809.1972.tb00581.x","article-title":"Distribution of genetic variants of erythrocyte phosphoglycerate kinase (PGK) and phosphohexose isomerase (PHI) among some population groups in south-east Asia and Oceania","volume":"36","author":"Omoto, K.; Blake, N.M.","year":"1972","unstructured":"Omoto, K., and Blake, N. M. (1972). Distribution of genetic variants of erythrocyte phosphoglycerate kinase (PGK) and phosphohexose isomerase (PHI) among some population groups in south-east Asia and Oceania. Annals of Human Genetics, 36, 61-67.","journal-title":"Annals of Human Genetics"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1056\/NEJM196901092800203","article-title":"Occurrence of defective hexosephosphate isomerization in human erythrocytes and leukocytes","volume":"280","author":"Paglia, D.E.; Holland, P.; Baughan, M.A.; Valentine, W.M.","year":"1969","unstructured":"Paglia, D. E., Holland, P., Baughan, M. A., and Valentine, W. M. (1969). Occurrence of defective hexosephosphate isomerization in human erythrocytes and leukocytes. New England Journal of Medicine, 280, 66-71.","journal-title":"New England Journal of Medicine"},{"key":"ref_24","first-page":"62","article-title":"Unique phenotypic expression of glucose phosphate isomerase deficiency","volume":"27","author":"Paglia, D.E.; Paredes, R.; Valentine, W.N.; Dorantes, S.; Konrad, P.N.","year":"1975","unstructured":"Paglia, D. E., Paredes, R., Valentine, W. N., Dorantes, S., and Konrad, P. N. (1975). Unique phenotypic expression of glucose phosphate isomerase deficiency. American Journal of Human Genetics, 27, 62-70.","journal-title":"American Journal of Human Genetics"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1093\/ajcp\/62.6.740","article-title":"Hereditary glucose phosphate isomerase deficiency. A review","volume":"62","author":"Paglia, D.E.; Valentine, W.N.","year":"1974","unstructured":"Paglia, D. E., and Valentine, W. N. (1974). Hereditary glucose phosphate isomerase deficiency. A review. American Journal of Clinical Pathology, 62, 740-751.","journal-title":"American Journal of Clinical Pathology"},{"key":"ref_26","first-page":"18","article-title":"Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia: a new variant (type Nordhorn)","volume":"8","author":"Schr6ter, W.; Koch, H.H.; Wonneberger, B.; Kalinowsky, W.; Arnold, A.; Blume, K.G.; Huther, W.","year":"1974","unstructured":"Schr6ter, W., Koch, H. 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British Journal of Haematology, 36, 475-484.","journal-title":"British Journal of Haematology"},{"key":"ref_28","first-page":"159","article-title":"Inherited variations in red cell phosphoglucose isomerase among Japanese","volume":"15","author":"Shinoda, T.","year":"1970","unstructured":"Shinoda, T. (1970). Inherited variations in red cell phosphoglucose isomerase among Japanese. Japanese Journal of Human Genetics, 15, 159-165.","journal-title":"Japanese Journal of Human Genetics"},{"key":"ref_29","first-page":"218","article-title":"Zur formalgenetik der phosphoglucoseisomerase (E. C. 5.3.1.9). Untersuchung einer sippe mit PGI-defizienz","volume":"10","author":"Tariverdian, G.; Arnold, H.; Blume, K.G.; Lenkeit, U.; Lohr, G.W.","year":"1970","unstructured":"Tariverdian, G., Arnold, H., Blume, K. G., Lenkeit, U., and Lohr, G. W. (1970). Zur formalgenetik der phosphoglucoseisomerase (E.C. 5.3.1.9). Untersuchung einer sippe mit PGI-defizienz. Humangenetik, 10, 218-223.","journal-title":"Humangenetik"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"868","DOI":"10.1111\/j.1651-2227.1975.tb03939.x","article-title":"Glucose phosphate isomerase deficiency in a Dutch family","volume":"64","author":"van Biervliet, J.P.G.M.","year":"1975","unstructured":"van Biervliet, J. P. G. M. (1975). Glucose phosphate isomerase deficiency in a Dutch family. Acta Paediatrica Scandinavica, 64, 868-872.","journal-title":"Acta Paediatrica Scandinavica"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1007\/BF00273629","article-title":"A new variant of glucose phosphate isomerase deficiency","volume":"30","author":"van Biervliet, J.P.; Vlug, A.; Bartstra, H.; Rotteveel, J.J.; de Vaan, G.A.M.; Staal, G.E.J.","year":"1975","unstructured":"van Biervliet, J. P., Vlug, A., Bartstra, H., Rotteveel, J. J., de Vaan, G. A. M., and Staal, G. E. J. (1975). A new variant of glucose phosphate isomerase deficiency. 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