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Red Blood Cell Anomalies: Elliptocytes & Oval Macrocyte

This document summarizes red blood cell anomalies including elliptocytes and oval macrocytes. Elliptocytes, also known as ovalocytes, are caused by a membrane integrity defect and have egg, pencil, or rod shapes. They are most common in hereditary elliptocytosis. Oval macrocytes, also called macroovalocytes, are caused by vitamin B12 or folate deficiency and are egg-shaped. Hereditary elliptocytosis is autosomal dominant and causes pencil or cigar shaped cells. It is caused by genetic changes in proteins like spectrin. Associated diseases include iron deficiency anemia, myelodysplastic syndrome, hereditary ovalocytosis, and megaloblastic anemia.

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176 views

Red Blood Cell Anomalies: Elliptocytes & Oval Macrocyte

This document summarizes red blood cell anomalies including elliptocytes and oval macrocytes. Elliptocytes, also known as ovalocytes, are caused by a membrane integrity defect and have egg, pencil, or rod shapes. They are most common in hereditary elliptocytosis. Oval macrocytes, also called macroovalocytes, are caused by vitamin B12 or folate deficiency and are egg-shaped. Hereditary elliptocytosis is autosomal dominant and causes pencil or cigar shaped cells. It is caused by genetic changes in proteins like spectrin. Associated diseases include iron deficiency anemia, myelodysplastic syndrome, hereditary ovalocytosis, and megaloblastic anemia.

Uploaded by

SHUPATUSSAI
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© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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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.

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