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Ovalocytosis, hereditary hemolytic, with defective erythropoiesis

MedGen UID:
322255
•Concept ID:
C1833689
•
Disease or Syndrome
Synonym: Ovalocytosis, Hereditary Hemolytic, with Defective Erythropoiesis
 
Monarch Initiative: MONDO:0008166
OMIM®: 166910

Clinical features

From HPO
Hemolytic anemia
MedGen UID:
1916
•Concept ID:
C0002878
•
Disease or Syndrome
A type of anemia caused by premature destruction of red blood cells (hemolysis).
See: Feature record | Search on this feature
Anemia of inadequate production
MedGen UID:
95937
•Concept ID:
C0392708
•
Pathologic Function
A kind of anemia characterized by inadequate production of erythrocytes.
See: Feature record | Search on this feature
Elliptocytosis
MedGen UID:
98107
•Concept ID:
C0427480
•
Finding
The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias.
Fattizzo B, Giannotta JA, Cecchi N, Barcellini W
Orphanet J Rare Dis 2021 Oct 9;16(1):415. doi: 10.1186/s13023-021-02036-4. PMID: 34627331Free PMC Article

Diagnosis

Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias.
Fattizzo B, Giannotta JA, Cecchi N, Barcellini W
Orphanet J Rare Dis 2021 Oct 9;16(1):415. doi: 10.1186/s13023-021-02036-4. PMID: 34627331Free PMC Article

Prognosis

Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias.
Fattizzo B, Giannotta JA, Cecchi N, Barcellini W
Orphanet J Rare Dis 2021 Oct 9;16(1):415. doi: 10.1186/s13023-021-02036-4. PMID: 34627331Free PMC Article

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