Hereditary ovalocytosis
Ovalocytosis - hereditary
Hereditary ovalocytosis is a rare condition passed down through families (inherited). The blood cells are oval-shaped instead of round. It is a form of hereditary elliptocytosis.
Red blood cells (RBCs) are normally round. In ovalocytosis, the cells are oval. Other conditions that produce abnormally shaped RBCs include spherocytosis and elliptocytosis.
Blood is comprised of red blood cells, platelets, and various white blood cells.
Causes
Ovalocytosis is mainly found in Southeast Asian populations.
Symptoms
Exams and Tests
An exam by your health care provider may show an enlarged spleen.
This condition is diagnosed by looking at the shape of blood cells under a microscope. The following tests may also be done:
- Complete blood count (CBC) to check for anemia or red blood cell destruction
- Blood smear to determine cell shape
- Bilirubin level (may be high)
- Lactate dehydrogenase level (may be high)
- Ultrasound of the abdomen (may show gallstones)
Treatment
In severe cases, the disease may be treated by removal of the spleen (
Possible Complications
The condition may be associated with gallstones or kidney problems.
References
Gallagher PG. Hemolytic anemias: red blood cell membrane and metabolic defects. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 152.
Gallagher PG. Red blood cell membrane disorders. In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Principles and Practice. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 45.
Merguerian MD, Gallagher PG. Hereditary elliptocytosis, hereditary pyropoikilocytosis, and related disorders. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 486.
Version Info
Last reviewed on: 1/25/2022
Reviewed by: Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists & Research Institute, Wellington, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
