Sitosterolemia: Four Cases of an Uncommon Cause of Hemolytic Anemia (Mediterranean Stomatocytosis with Macrothrombocytopenia).
Hemolytic anemia
Macrothrombocytopenia
Plant sterols
Sitosterolemia
Stomatocytes
Journal
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
ISSN: 0971-4502
Titre abrégé: Indian J Hematol Blood Transfus
Pays: India
ID NLM: 9425818
Informations de publication
Date de publication:
Jan 2021
Jan 2021
Historique:
received:
07
06
2020
accepted:
28
08
2020
entrez:
12
3
2021
pubmed:
13
3
2021
medline:
13
3
2021
Statut:
ppublish
Résumé
Sitosterolemia is a rare autosomal recessively inherited lipid metabolic disorder that is characterized by hyper absorption of plant sterols from the intestinal mucosa leading to toxic levels in the blood. Four patients of age ranging from 11 to 29 years presented to the outpatient department with clinical features of hemolytic anemia. There were no features of hypercholesterolemia in any of the patients. Peripheral smear examination of all four patients showed stomatocytes and macrothrombocytopenia. Qualitative testing for plant sterols was performed in one case. Next generation sequencing revealed a compound heterozygous mutation in
Identifiants
pubmed: 33707850
doi: 10.1007/s12288-020-01346-0
pii: 1346
pmc: PMC7900322
doi:
Types de publication
Journal Article
Langues
eng
Pagination
157-161Informations de copyright
© Indian Society of Hematology and Blood Transfusion 2020.
Déclaration de conflit d'intérêts
Conflict of interestThere are no conflicts of interest.
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