Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P02794 (ferritin)
 17,525 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In the United Kingdom the national quality assessment scheme (NEQAS) in haematology organizes regular surveys for blood counts, blood films, reticulocyte counts, cytochemistry, identification of abnormal haemoglobins, HbA2 and HbF quantitation, G6PD screening tests, assays of serum vitamin B12, folate and ferritin. For most tests there has been significant reduction in inter-laboratory variance despite occasional blunders. This illustrates the role of NEQAS in improving the standard of laboratory practice in the UK. The problems in equating analysis of NEQAS survey materials with routine laboratory specimen are discussed.
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PMID:EQA for general haematology in the United Kingdom. 854 77

A patient with chronic hemolytic anemia and G6PD deficiency was noted to be severely jaundiced and to have a high serum ferritin level. Analysis of his DNA revealed only heterozygosity for the c.187 C-->G (H63D) mutation of HFE, but showed that he was homozygous for the UDP glucuronosyltransferase promoter mutation of Gilbert's disease and that he had a previously undescribed mutation of G6PD, c.832 T-->C (Ser278Pro). The new variant was named G6PD La Jolla.
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PMID:Severe jaundice in a patient with a previously undescribed glucose-6-phosphate dehydrogenase (G6PD) mutation and Gilbert syndrome. 1206 2