| pubmed-article:1954389 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:1954389 | lifeskim:mentions | umls-concept:C0037889 | lld:lifeskim |
| pubmed-article:1954389 | lifeskim:mentions | umls-concept:C0011155 | lld:lifeskim |
| pubmed-article:1954389 | lifeskim:mentions | umls-concept:C0220781 | lld:lifeskim |
| pubmed-article:1954389 | lifeskim:mentions | umls-concept:C1883254 | lld:lifeskim |
| pubmed-article:1954389 | lifeskim:mentions | umls-concept:C0002311 | lld:lifeskim |
| pubmed-article:1954389 | pubmed:issue | 11 | lld:pubmed |
| pubmed-article:1954389 | pubmed:dateCreated | 1991-12-31 | lld:pubmed |
| pubmed-article:1954389 | pubmed:abstractText | A child diagnosed in utero with hydrops fetalis and a hematocrit of 6.4% was studied to determine the etiology of the anemia. Fetal red blood cells (RBCs) obtained during in utero transfusion had extremely abnormal osmotic fragility. A maternal history of mild autosomal dominant hereditary spherocytosis was present, and the father, who was hematologically normal, had a slightly abnormal osmotic fragility test. The patient was transfusion dependent after birth, with circulating nucleated RBCs but less than 1% reticulocytes. The patient's anemia failed to respond to splenectomy. Because mature RBCs of the patient were not available for study, progenitor-derived erythroblasts grown in culture were investigated. Immunodot assays of the patient's progenitor-derived cells showed a total cell spectrin content 26% of normal. Immunoprecipitation of whole burst-forming units-erythroid-derived cells and solubilized membranes from cells pulse-labeled with 35S-methionine showed a severe deficiency in alpha-spectrin synthesis and a markedly reduced amount of alpha- and beta-spectrin on cell membranes. No alpha-spectrin degradation products were found within the cells or were produced during membrane preparation. Ankyrin content and band 3 synthesis were not different from control. Inheritance of two genetic defects causing severely reduced alpha-spectrin synthesis is proposed as the cause of the lethal anemia, resulting in cell fragmentation during precursor enucleation or during egress from bone marrow. | lld:pubmed |
| pubmed-article:1954389 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1954389 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1954389 | pubmed:language | eng | lld:pubmed |
| pubmed-article:1954389 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1954389 | pubmed:citationSubset | AIM | lld:pubmed |
| pubmed-article:1954389 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1954389 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1954389 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:1954389 | pubmed:month | Dec | lld:pubmed |
| pubmed-article:1954389 | pubmed:issn | 0006-4971 | lld:pubmed |
| pubmed-article:1954389 | pubmed:author | pubmed-author:WhitfieldC... | lld:pubmed |
| pubmed-article:1954389 | pubmed:author | pubmed-author:MillerB ABA | lld:pubmed |
| pubmed-article:1954389 | pubmed:author | pubmed-author:FollweilerJ... | lld:pubmed |
| pubmed-article:1954389 | pubmed:author | pubmed-author:Lopresti-Morr... | lld:pubmed |
| pubmed-article:1954389 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:1954389 | pubmed:day | 1 | lld:pubmed |
| pubmed-article:1954389 | pubmed:volume | 78 | lld:pubmed |
| pubmed-article:1954389 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:1954389 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:1954389 | pubmed:pagination | 3043-51 | lld:pubmed |
| pubmed-article:1954389 | pubmed:dateRevised | 2008-11-21 | lld:pubmed |
| pubmed-article:1954389 | pubmed:meshHeading | pubmed-meshheading:1954389-... | lld:pubmed |
| pubmed-article:1954389 | pubmed:meshHeading | pubmed-meshheading:1954389-... | lld:pubmed |
| pubmed-article:1954389 | pubmed:meshHeading | pubmed-meshheading:1954389-... | lld:pubmed |
| pubmed-article:1954389 | pubmed:meshHeading | pubmed-meshheading:1954389-... | lld:pubmed |
| pubmed-article:1954389 | pubmed:meshHeading | pubmed-meshheading:1954389-... | lld:pubmed |
| pubmed-article:1954389 | pubmed:meshHeading | pubmed-meshheading:1954389-... | lld:pubmed |
| pubmed-article:1954389 | pubmed:meshHeading | pubmed-meshheading:1954389-... | lld:pubmed |
| pubmed-article:1954389 | pubmed:meshHeading | pubmed-meshheading:1954389-... | lld:pubmed |
| pubmed-article:1954389 | pubmed:meshHeading | pubmed-meshheading:1954389-... | lld:pubmed |
| pubmed-article:1954389 | pubmed:meshHeading | pubmed-meshheading:1954389-... | lld:pubmed |
| pubmed-article:1954389 | pubmed:year | 1991 | lld:pubmed |
| pubmed-article:1954389 | pubmed:articleTitle | Deficiency of alpha-spectrin synthesis in burst-forming units-erythroid in lethal hereditary spherocytosis. | lld:pubmed |
| pubmed-article:1954389 | pubmed:affiliation | Department of Cellular and Molecular Physiology, College of Medicine, Pennsylvania State University, Hershey 17033. | lld:pubmed |
| pubmed-article:1954389 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:1954389 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:1954389 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:1954389 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1954389 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1954389 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1954389 | lld:pubmed |
