RED BLOOD CELL ANOMALIES

Elliptocytes & Oval macrocyte

ACOSTA & PELITE
Elliptocytes
• known as ovalocytes
• caused by membrane integrity
defect
• Most abundant in hereditary
elliptocytosis
• Shapes
• Egg-shaped
• Pencil
• Rod
• Cigar shape
Oval Macrocytes
• known as Macrovalocytes
• caused by membrane integrity
defect
• most commonly associated with
vit. B12 and Folate Deficiency
• Shape
• Egg-shaped
MORPHOLOGY

Hereditary
Ovalocytosis
 Disease Association
Hereditary Elliptocytosis
• has a pencil or cigar like shaped
• autosomal dominant; mostly
heterozygous, could be homozygous
• there is no specific gene responsible
for the cigar shape
• exists in 1 in 2000 to 1 in 4000
individuals and it is prevalence in
Africa and Mediterranean regions
Disease Association
Hereditary Elliptocytosis

• Pathopysiology
• it is a extravascular hemolysis; defect in
spectrin, protein 4.1 and GPC
• caused by a genetic change in either the
EPB41, SPTA1, or SPTB gene, and is
inherited in an autosomal dominant
pattern
• proteins involved: alpha spectin, protein
4.1 ,GPC
Disease Association
Hereditary Elliptocytosis

• Clinical Diagnosis
• increase in reticulyte count
• decrease in haptogobin levels
• low MCV
• Treatment
• require no treatment
• splenectomy
• ransfusions
 Disease Association

Iron Deficiency Anemia Idiopathic Myelofibrosis

• Common type of anemia in which it • an uncommon type of bone

the blood lacks of healthy rbc
maarow cancer that disrupts the
normal production of blood in the
body
Disease Association
Myelodysplastic Syndrome

• Associated with faulty development

of blood cells in the bone marrow
• Damage in the hematopoietic stem
cells
• Abnormal blood cells don’t function
well
• PBS: Oval shaped RBC
Disease Association
Hereditary Ovalocytosis
(Southeast Asian Ovalocytosis)

• Characterized by the presence of

oval-shaped erythrocytes
• Cause by a heterozygous
27-nucleotide deletion in SLC4A1
coding for band 3, the
anion-exchange protein of the RBC
membrane
• Unstable cytoskeleton that allows
RBC to deform.
Disease Association
Megaloblastic Anemia

• Vit. B12 and Folate Deficiency

• Bone Marrow larger but still mature
RBC
• Destroyed by Spleen
• Decrease RBC count
• In
response, Bone Marrow Produces
abnormal precursur.
References
• Jones, K. W. (2009). Evaluation of cell morphology and introduction
to platelet and white blood cell morphology. Clinical hematology
and fundamentals of hemostasis, 93-116.
• Keohane, E. M., Otto, C. N., & Walenga, J. M. (2019). Rodak's
Hematology-E-Book: Clinical Principles and Applications. Elsevier
Health Sciences.