Ontology highlight
ABSTRACT:
SUBMITTER: Rieneck K
PROVIDER: S-EPMC10642527 | biostudies-literature | 2022 Sep
REPOSITORIES: biostudies-literature
Rieneck Klaus K Lausen Birgitte B Clausen Frederik Banch FB Jønson Lars L Hansen Anne Todsen AT Dziegiel Morten Hanefeld MH
Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie 20220325 5
Inborn hemolytic anemia requiring frequent blood transfusions can be a life-threatening disease. Treatment, besides blood transfusion, includes iron chelation for prevention of iron accumulation due to frequent blood transfusions. We present the results of a clinical investigation where the proband was diagnosed with severe hemolytic anemia of unknown origin soon after birth. Transfusion was required every 4-6 weeks. After whole exome sequencing of the proband and his parents as well as a health ...[more]