{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,23]],"date-time":"2025-09-23T13:23:30Z","timestamp":1758633810905},"reference-count":31,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2005,11,21]],"date-time":"2005-11-21T00:00:00Z","timestamp":1132531200000},"content-version":"vor","delay-in-days":6656,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[1987,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hereditary elliptocytosis (HE) is, in the heterozygous state, a common mild congenital hemolytic disease. In contrast, homozygous elliptocytosis is a severe transfusion\u2010dependent hemolytic anemia. The major determinant of red cell membrane shape and stability is a two\u2010dimensional proteinaceous meshwork named membrane skeleton. Spectrin, the most important protein of the membrane skeleton, is basically a heterodimer composed of alpha and beta chains. Within the membrane, spectrin dimers self\u2010associate to form tetramers. In type I HE spectrin dimer self\u2010association is defective and an excess of spectrin dimer is present in the patient's red cell membranes. The defective self\u2010association is often correlated with an abnormality of the spectrin alpha chain which is depicted by limited tryptic digest of spectrin. In a family previously studied by us (Dhermy <jats:italic>et al.<\/jats:italic>, 1984), the search for a spectrin defect in the red cells of the fetus of the pregnant mother was indicated for the following reasons: the diagnosis of heterozygous type I HE with the same spectrin variant had been made in the mother as well as in the father. Moreover, homozygous HE had been recognized in one of the children born two years previously with a persistent and severe transfusion dependent hemolytic anemia. Preliminary studies of normal fetal erythrocytes at twenty weeks gestation have shown that fetal and adult spectrin molecules are identical. The results obtained in the fetus at risk allowed us to diagnose type I HE (though elliptocytes were not present in the blood) for the following reasons: (i) erythrocyte deformability was decreased (ii) spectrin self\u2010association was defective with an excess of dimer species in the membrane (iii) limited tryptic digest of spectrin showed the same abnormal pattern as seen in the heterozygous mother, with a decrease in the 80,000\u2010dalton peptide and a concomitant increase in the 74,000\u2010dalton peptide. The heterozygous state, strongly suspected on the tryptic digest pattern of fetal spectrin, was confirmed when the mother gave birth to a baby who did not have hemolytic anemia during the first 18 months of life.<\/jats:p>","DOI":"10.1002\/pd.1970070703","type":"journal-article","created":{"date-parts":[[2007,3,4]],"date-time":"2007-03-04T01:21:03Z","timestamp":1172971263000},"page":"471-483","source":"Crossref","is-referenced-by-count":6,"title":["Prenatal diagnosis of hereditary elliptocytosis with molecular defect of spectrin"],"prefix":"10.1002","volume":"7","author":[{"given":"D.","family":"Dhermy","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Feo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Garbarz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. C.","family":"Lecomte","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O.","family":"Bournier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Chaveroche","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Gautero","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Boivin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Daffos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Forestier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,11,21]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/978-3-642-88062-9","volume-title":"An illustrated classification and its rationale. Red cell shape: physiology, pathology, ultrastructure","author":"Bessis M.","year":"1973"},{"key":"e_1_2_1_3_1","unstructured":"Burke B. E.(1981). Structural studies of human erythrocyte spectrin University of London : Ph.D. thesis."},{"key":"e_1_2_1_4_1","first-page":"141","article-title":"The molecular organization of the red cell membrane skeleton","volume":"20","author":"Cohen M. C.","year":"1983","journal-title":"Semin. Hematol."},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970030402"},{"key":"e_1_2_1_6_1","first-page":"7","article-title":"An\u00e9mie h\u00e9molytique cong\u00e9nitale par instabilit\u00e9 thermique \u00e9rythrocytaire et d\u00e9faut de t\u00e9tram\u00e9risation de la spectrine. Etude de la d\u00e9formabilit\u00e9 \u00e9rythrocytaire d'un nouveau cas de pyropoikilocytose h\u00e9r\u00e9ditaire par visco\u2010diffractom\u00e9trie","volume":"25","author":"Dhermy D.","year":"1983","journal-title":"Nouv Rev. Fr. 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