From the Research
Causes of Elliptocytes
- Hereditary elliptocytosis is a heterogeneous red blood cell membrane disorder characterized by the presence of elliptocytes on a peripheral blood smear 1, 2
- It can be caused by mutations in the EPB41 gene, which results in a frameshift and a premature stop codon, encoding a truncated protein 2
- Hereditary elliptocytosis can also be coinherited with other conditions, such as deletional hemoglobin H disease 1
Causes of Ovalocytes
- Southeast Asian ovalocytosis (SAO) is characterized by macro-ovalocytes and ovalo-stomatocytes on blood smear 3
- SAO is caused by a deletion of codons 400-408 in the SLC4A1 gene, which encodes for band 3 erythrocyte membrane protein 3
- This deletion results in an unusual erythrocyte stiffness and oval shape of the cells on blood smear 3
Causes of Macrocytes
- Macrocytosis can be caused by various conditions, including alcoholism, vitamin B12 and folate deficiencies, and medications 4, 5
- It can also be caused by hypothyroidism, liver disease, and primary bone marrow dysplasias, including myelodysplasia and myeloproliferative disorders 4
- Macrocytosis can be evaluated using a peripheral smear, which can indicate megaloblastic anemia or non-megaloblastic causes 4, 5